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Horst-Sikorska, Wanda, Magdalena Ignaszak-Szczepaniak, Michalina Marcinkowska, Marta Kaczmarek, Malgorzata Stajgis, and Ryszard Slomski. "Association analysis of vitamin D receptor gene polymorphisms with bone mineral density in young women with Graves' disease." Acta Biochimica Polonica 55, no. 2 (2008): 371–80. http://dx.doi.org/10.18388/abp.2008_3085.
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Graves' (GD) hyperthyroidism induces accelerated bone turnover that leads to decreased bone mineral density (BMD). The role of the VDR gene in predisposition to primary osteoporosis has been recognized. Recent studies show associations between the VDR gene polymorphisms and susceptibility to autoimmune diseases. Here we analyzed if VDR gene polymorphisms: BsmI, ApaI, TaqI, and FokI may predispose women with Graves' hyperthyroidism to BMD reduction or to disease development. The subjects were 75 premenopausal female Polish patients with GD and 163 healthy women. The genotyping was performed by the use of the restriction fragment length polymorphism analysis (RFLP). We studied the association of the VDR polymorphisms and their haplotypes with patients' BMD and also SNPs and haplotypes association with Graves' disease. We found a strong linkage disequilibrium for the BsmI, ApaI, and TaqI polymorphims that formed three most frequent haplotypes in Graves' women: baT (47.9%), BAt (34.9%), and bAT (16.4%). We did not show statistically significant association of analyzed VDR polymorphisms or haplotypes with decreased bone mineral density in Graves' patients. However, the presence of F allele had a weak tendency to be associated with Graves' disease (with OR=1.93; 95% CI: 0.97-3.84; p=0.058). VDR gene polymorphisms do not predict the risk of decreased BMD in Polish women with Graves'. It may be speculated that the F allele carriers of the VDR-FokI polymorphism are predisposed to Graves' disease development.
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Yan, Xiaofei, Yuzhen Wei, Dan Wang, et al. "Four common vitamin D receptor polymorphisms and coronary artery disease susceptibility: A trial sequential analysis." PLOS ONE 17, no. 10 (2022): e0275368. http://dx.doi.org/10.1371/journal.pone.0275368.
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Background Studies on the susceptibility of vitamin D receptor (VDR) polymorphisms to coronary artery disease (CAD) reached controversial results. We performed this study for a more accurate evaluation between the VDR polymorphisms and CAD susceptibility. Methods PubMed, Embase, CNKI, Wan Fang, and VIP databases were searched. The odds ratios (ORs) and 95% confidence intervals (95% CIs) were used to evaluate the associations. Trial sequential analysis (TSA) was introduced to estimate the positive associations. The potential functions of the VDR polymorphisms were analyzed based on the SNPinfo and ENSEMBL databases. Results Thirteen studies were finally included. In the overall analysis, increased CAD risks were observed in the VDR rs1544410 polymorphism and verified by the TSA; for the rs2228570 and rs731236 polymorphisms, significant associations with high heterogeneity were detected; decreased risk was remarkably observed for the rs7975232 polymorphism. In the subgroup analysis, wide associations with reduced heterogeneity were observed in the rs2228570, rs1544410, and rs731236 polymorphisms. The RNAfold analysis indicated the mutant G allele of the rs1544410 polymorphism was easier to disperse from the DNA double helix structure and may have a potential crucial role in the VDR transcription process. Conclusions Our analysis supports the role of the rs1544410 polymorphism in the VDR gene as a risk factor for CAD. The VDR rs2228570 and rs731236 polymorphisms were associated with increased CAD risks in the White population. Restrict decreased CAD risk was firstly discovered in the rs7975232 polymorphism. Limitations Firstly, the language was restricted to English and Chinese, which will cause the limited number of studies included; secondly, other unknown polymorphisms in VDR polymorphisms could also be associated the CAD susceptibility, and more case-control studies with comprehensive clinical outcomes and GWAS studies were required; thirdly, the rs1544410, rs7975232 and rs731236 polymorphism are in strong LD, haploid factors with CAD risk need to be considered; fourthly, the mechanisms of the VDR polymorphism on the VDR gene or RNA or protein were not discussed enough, further mechanistic studies are required; at last, genetic factor was the one side for CAD susceptibility, the interaction between environmental risk factors should be considered.
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Atmoko, Widi, Putu Angga Risky Raharja, Ponco Birowo, Agus Rizal Ardy Hariandy Hamid, Akmal Taher, and Nur Rasyid. "Genetic polymorphisms as prognostic factors for recurrent kidney stones: A systematic review and meta-analysis." PLOS ONE 16, no. 5 (2021): e0251235. http://dx.doi.org/10.1371/journal.pone.0251235.
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Genetic polymorphisms have been suggested as risk factors affecting the occurrence and recurrence of kidney stones, although findings regarding the latter remain inconclusive. We performed this systematic review and meta-analysis to clarify the associations between genetic polymorphisms and recurrent kidney stones. PubMed, SCOPUS, EMBASE, and Cochrane Library databases were searched through May 28th, 2020 to identify eligible studies. The Quality in prognostic studies (QUIPS) tool was used to evaluate bias risk. Allelic frequencies and different inheritance models were assessed. All analyses were performed using Review manager 5.4. A total of 14 studies were included for meta-analysis, assessing urokinase (ApaL1) and vitamin D receptor (VDR) (ApaI, BsmI, FokI, and TaqI) gene polymorphisms. The ApaLI polymorphism demonstrated protective association in the recessive model [odds ratio (OR) 0.45, P < 0.01] albeit higher risk among Caucasians in the heterozygous model (OR 16.03, P < 0.01). The VDR-ApaI polymorphism showed protective association in the dominant model (OR 0.60, P < 0.01). Among Asians, the VDR-FokI polymorphism recessive model showed significant positive association (OR 1.70, P < 0.01) and the VDR-TaqI polymorphism heterozygous model exhibited protective association (OR 0.72, P < 0.01). The VDR-BsmI polymorphism was not significantly associated with recurrent kidney stones in any model. Urokinase-ApaLI (recessive model), VDR-ApaI (dominant model), and VDR-TaqI (heterozygous model) polymorphisms were associated with decreased recurrent kidney stone risk whereas urokinase-ApaLI (heterozygous model) and VDR-FokI polymorphisms were associated with increased risk among Caucasians and Asians, respectively. These findings will assist in identifying individuals at risk of kidney stone recurrence.
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Sharma, N., V. Khandelwal, and K. K. Mohanty. "A meta-analysis study: Vitamin D receptor genetic polymorphism in Respiratory tuberculosis." Research Journal of Biotechnology 20, no. 1 (2024): 115–36. https://doi.org/10.25303/201rjbt1150136.
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Our study performed meta-analysis of all available literature on numerous features of relation concerning vitamin D genetic polymorphisms and pulmonary tuberculosis. PubMed and Springer databases were hunted and out of 365 articles, 40 studies were chosen for the present review to examine the relation of PTB with vitamin D receptors (VDR). A total of 18637 patients and 25515 controls, with 35 investigations on VDR FokI polymorphism, 33 on VDR TaqI polymorphism, 25 on VDR BsmI polymorphism and 22 on VDR ApaI polymorphism were included. To understand the connection of polymorphisms with Tuberculosis (TB) hazard, the odds ratios (ORs) and the conforming 95% confidence intervals (CIs) were estimated rendering to the occurrences of genotypes. P values of 0.05 were considered statistically relevant. Funnel maps were used to evaluate publication bias. Several published articles observed the relation of FokI, ApaI, BsmI and TaqI gene polymorphism of VDR with pulmonary tuberculosis (PTB). Their outcomes were unpredictable; hence we did a meta-analysis to find the precise relativeness of the four. Our findings complement many studies being conducted on various communities across the world to better understand the significance of VDR polymorphism in PTB. FokI, TaqI and ApaI showed risk and TaqI showed no risk of PTB development in the population. Depleted amounts of vitamin D were seen in TB patients. Our analysis exposed the relation between vitamin D receptor gene polymorphism and TB. This meta-analysis shows that VDR FokI polymorphism pays to the hazard of pulmonary TB.
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Patel, Shruti R., Kinjal D. Patel, Jayendra B. Patel, Prabhudas S. Patel, and Franky Dhaval Shah. "Association of vitamin D receptor gene polymorphisms with breast cancer risk." Journal of Cancer Research and Therapeutics 19, Suppl 2 (2023): S677—S681. http://dx.doi.org/10.4103/jcrt.jcrt_60_22.
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ABSTRACTS Background: Recent literature suggests that vitamin D signaling has a protective effect against breast cancer risk. Thus, the aim of the present study was to find the association of vitamin D receptor (VDR) gene polymorphisms with breast cancer risk. Materials and Methods: Fok1, Bsm1, Apa1, and Taq1 polymorphisms were performed by polymerase chain reaction- restriction fragment length polymorphism (PCR-RFLP) method, and Poly A polymorphism was carried out using PCR-SSCP in 140 breast cancer patients and 155 controls. Results: Odds ratio was significantly higher in both homozygous variant genotypes (LL) of Poly A polymorphism of VDR (odds ratio [OR] = 5.42, 95% confidence interval [CI] = 1.19–23.31, P = 0.02) and heterozygous variant genotypes (SL) of Poly A polymorphism of VDR (OR = 3.89, 95% CI = 1.10–13.7, P = 0.03). Fok1, Bsm1, Apa1, and Taq1 polymorphisms of VDR gene were not significantly associated with breast cancer risk. Conclusion: Poly A polymorphism at the 3′ untranslated region (UTR) of VDR gene was significantly associated with breast cancer risk in West Indian population.
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Subanada, Ida Bagus, I. Made Bakta, I. Wayan Bikin Suryawan, Putu Astawa, and Bagus Komang Satriyasa. "Association between Vitamin D Level, Vitamin D Receptor Gene Polymorphisms, and Cathelicidin Level to Acute Lower Respiratory Infections, and the Picture of Exon 2-Vitamin D Receptor Gene Polymorphisms in Children under 5 years old." Open Access Macedonian Journal of Medical Sciences 8, B (2020): 536–41. http://dx.doi.org/10.3889/oamjms.2020.4352.
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BACKGROUND: Acute lower respiratory infections (ALRIs) are infectious diseases with high morbidity and mortality in children under five. There are several factors associated with ALRIs (bronchiolitis or pneumonia) that have been established. In recent years, Vitamin D level, Vitamin D receptor (VDR) gene polymorphism, and cathelicidin level are also associated with ALRIs. Until now, there was no VDR gene other than Fok1 identified at the exon 2-VDR gene.
 OBJECTIVE: The objective of this study was to establish whether Vitamin D deficiency, ff genotype-Fok1 VDR gene polymorphism, and low levels of cathelicidin are risk factors of ALRIs and to determine the pictures of exon 2-VDR genes polymorphisms in children under five.
 METHODS: A matched case–control study was conducted in children under the age of five. There were 35 subjects who suffered from bronchiolitis or pneumonia and 35 healthy subjects as a control group. These groups were matched based on age and gender, and the children originated from the same neighborhood. Level of 25(OH) D, exon 2-VDR genes sequencing, and level of cathelicidin were investigated. Data were analyzed by the Chi-square test or Fisher exact test and logistic regression with a significant level of p < 0.05.
 RESULTS: This study found that Vitamin D deficiency and low levels of cathelicidin were risk factors of ALRIs (odds ratio [OR] = 5.82 [95% confidence interval [CI] = 1.71–19.89], p = 0.005 and OR = 4.07 [95% CI = 1.10–15.12], p = 0.036, respectively), while ff genotype-Fok1 VDR gene polymorphism was not (OR = 1.12 [95% CI = 0.26–4.86], p = 1.000). Fok1 VDR gene polymorphism was the picture of exon 2-VDR gene polymorphisms.
 CONCLUSION: It is concluded that Vitamin D deficiency and low levels of cathelicidin are risk factors, but ff genotype-Fok1 VDR gene polymorphism is not a risk factor of ALRIs. Fok1 VDR gene polymorphism is the picture of exon 2-VDR genes polymorphisms.
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Bulan, B., AY Hoscan, SN Keskin, et al. "Vitamin D receptor polymorphisms among the Turkish population are associated with multiple sclerosis." Balkan Journal of Medical Genetics 25, no. 1 (2022): 41–50. http://dx.doi.org/10.2478/bjmg-2022-0003.
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Abstract Multiple sclerosis (MS) is an inflammatory disease characterized by demyelination and axonal degeneration affecting the central nervous system. Among the genetic factors suggested to be associated with this disease are polymorphisms to the vitamin D receptor (VDR) gene. We tested the hypothesis that polymorphisms in the vitamin D receptor (VDR) gene are associated with MS. The aim of the study was to investigate the relationship of MS with the VDR gene Fok-I, Bsm-I and Taq-I polymorphisms among the Turkish population. This study contains 271 MS patients and 203 healthy controls. Genomic DNA was isolated from the samples and the VDR gene Fok-I, Bsm-I and Taq-I polymorphism regions were amplified by polymerase chain reaction (PCR). The PCR products were digested, and the genotypes were determined based on size of digested PCR products. Our results demonstrate associations between MS and the distribution of the VDR gene Fok-I T/T polymorphism genotype in a dominant model, VDR gene Fok-I T allele frequency, distribution of VDR gene Taq-I C/C polymorphism genotype in a dominant model and VDR gene Taq-I C allele frequency (Pearson test, p<0.05). However, there was no association between MS and the VDR gene Bsm-I polymorphisms for the genotype distribution (Pearson test, p>0.05) or allele frequency (Pearson test, p>0.05). Fok-I and Taq-I VDR gene polymorphisms are significantly associated with MS in dominant, homozygote and heterozygote inheritance models among the Turkish population.
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Vidigal, Verônica Marques, Tiago Donizetti Silva, Juliana de Oliveira, Célia Aparecida Marques Pimenta, Aledson Vitor Felipe, and Nora Manoukian Forones. "Genetic Polymorphisms of Vitamin D Receptor (VDR), CYP27B1 and CYP24A1 Genes and the Risk of Colorectal Cancer." International Journal of Biological Markers 32, no. 2 (2017): 224–30. http://dx.doi.org/10.5301/jbm.5000248.
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Introduction Vitamin D receptor (VDR) and proteins encoded by the genes CYP27B2 and CYP24A1 involved in the production and inactivation of vitamin D can influence vitamin D and the susceptibility to colorectal cancer (CRC). The objective of this study was to investigate the relationship between the risk of CRC and polymorphisms in VDR, CYP27B1 and CYP24A1, lifestyle and dietary habits. Methods The study included 152 patients with CRC and 321 controls. All participants answered a questionnaire on their dietary habits, alcohol consumption and smoking habits. DNA was extracted from peripheral blood. Polymorphisms of BsmI and ApaI were identified by performing PCR-RFLP. Identification of CYP24A1 (rs6013897, rs158552 and rs17217119) and CYP27B1 (rs10877012) polymorphisms was performed by gene sequencing. Results Smoking, alcohol use, and low or no consumption of fruit, cereals and dairy products were associated with an increased risk of CRC. A heterozygous genotype Aa or an association genotype aa + Aa of the VDR ApaI polymorphism increased the risk of CRC. The VDR BsmI polymorphism was not significantly associated with the risk of CRC. Multivariate analysis showed that heterozygous and association genotype AT + AA of the rs6013897 polymorphism, genotype CT of the rs158552 polymorphism, association genotype CT + CC and genotypes AA and GG of the rs17217119 polymorphism of CYP24A1, and heterozygous genotype GT and association genotype GT + TT of the rs10877012 polymorphism in CYP27B1 were associated with a higher risk of CRC. Conclusions Dietary habits, lifestyle, and polymorphisms in VDR (ApaI), CYP24A1 (rs6013897, rs158552, rs17217119) and CYP27B1 (rs10877012) were associated with a higher risk of CRC.
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Wang, Guohua, Liangyi Xie, Jianzhong Hu, et al. "Osteopontin, Bone Morphogenetic Protein-4, and Vitamin D Receptor Gene Polymorphisms in the Susceptibility and Clinical Severity of Spinal Tuberculosis." Cellular Physiology and Biochemistry 41, no. 5 (2017): 1881–93. http://dx.doi.org/10.1159/000471935.
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Background/Aims: Spinal tuberculosis (TB) is a common and dangerous form of extrapulmonary TB with unclear mechanisms in its occurrence and progression. This study investigated the clinical significances of bone morphogenetic protein-4 (BMP-4), osteopontin (OPN), and vitamin D receptor (VDR) gene polymorphism, mRNA and protein expression in spinal TB patients. Methods: BMP-4 and OPN gene polymorphisms were detected by direct DNA sequencing, while VDR-FokI polymorphisms were analyzed using PCR-RFLP. mRNA and protein expression was measured using real-time PCR and Western blot, respectively. Results: A significant lower frequency of TT genotype and T allele at 6007C>T polymorphism in BMP-4 gene; higher frequency of GG genotype and G allele at -66T>G polymorphism in OPN gene, and higher frequency of the ff genotype and f allele at the VDR-FokI polymorphism were observed in patients with spinal TB compared to controls. TT genotype of 6007C>T polymorphism correlated with a lower BMP-4 mRNA and protein expression, -66GG genotype correlated with a high OPN mRNA and protein expression, and ff genotype correlated with the lower VDR mRNA and protein levels in the intervertebral disc tissues. The TT genotype and low BMP-4 gene expression; the -66GG genotype and high OPN gene expression; and the ff genotype and low VDR gene expression significantly correlated with the clinical severity of spinal TB. Conclusion: The 6007C>T polymorphism of BMP-4, -66T>G polymorphism of OPN, and VDR-FokI polymorphism are the susceptible factors of spinal TB and indicators of the clinical severity. These three genes may collaborate in the development of spinal TB.
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Özturk, Özener H., Aslan B. Tacal, B. F. Eken, et al. "Single nucleotide polymorphisms in IL-1A RS1800587, IL-1B RS1143634 and vitamin D receptor rs731236 in stage III grade B/C periodontitis." Balkan Journal of Medical Genetics 25, no. 1 (2022): 51–60. http://dx.doi.org/10.2478/bjmg-2022-0005.
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Abstract The purpose of the study is to determine the prevalence of interleukin (IL)-1A (rs1800587), IL-1B (rs1143634) and vitamin D receptor (VDR) (TaqI, rs731236) gene polymorphisms in the Turkish population and their association with Stage III Grade B/C periodontitis. Systemically and periodontally healthy individuals (N = 100) and Stage III Grade B/C periodontitis patients (N=100) based on clinical and radiographic examination were included in this research. Clinical attachment level, probing depth, bleeding on probing, plaque and gingival indices of the subjects were measured. Genotyping of IL-1A (rs1800587), IL-1B (rs1143634) and VDR (rs731236) polymorphisms was conducted by Real Time PCR. Allelic and genotypic distributions of IL-1A (rs1800587) gene polymorphism were not associated with periodontitis (p>0.05). In IL-1B (rs1143634) gene polymorphism, the C allele was detected more frequently in healthy individuals compared with the periodontitis patients (p=0.045). CC genotype and C allele in VDR (rs731236) gene polymorphism was higher in periodontitis patients (p=0.031, p=0.034, respectively). In comparison with Grade B periodontitis patients and healthy subjects, CC genotype and C allele were observed more frequently in the Grade B periodontitis in terms of alleles (C/T) and genotypes for VDR (rs731236) polymorphism (p=0.024, p=0.008, respectively). This study presents that the VDR (rs731236) polymorphism are associated with enhanced susceptibility to Stage III periodontitis in the Turkish population. Furthermore, VDR (rs731236) polymorphism may be used as an identification criteria to discriminate Grade B and Grade C in Stage III periodontitis.
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Rojanasrirat, Napatsanant, Somsak Suthutvoravut, Pattamawadee Yanatatsaneejit, and Anna Wongkularb. "Association Between Vitamin D Levels and Vitamin D Receptor FokI Polymorphism in Thai Postmenopausal Women With Osteoporosis." Ramathibodi Medical Journal 44, no. 1 (2021): 1–10. http://dx.doi.org/10.33165/rmj.2021.44.1.246575.
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Background: Osteoporosis is a complex genetic disease, which is common among postmenopausal women. It is characterized by decreased bone mineral density (BMD) and increased bone fragility and fractures.
 Objective: To study the association between serum vitamin D levels and vitamin D receptor (VDR) genetic FokI polymorphism in postmenopausal women with osteoporosis.
 Methods: A total of 60 postmenopausal women who came for treatment at the menopausal clinic at Ramathibodi Hospital were enrolled. All of the patients had their BMD measured, and were determined serum vitamin D levels and VDR FokI polymorphism. Data were analyzed using chi-square and Fisher exact tests. The frequency of single nucleotide polymorphism (SNP) with risk of osteoporosis was compared.
 Results: Among 60 postmenopausal women, 26 (43.3%) women were an osteoporotic group and 34 (56.7%) women were non-osteoporotic group. There were no significant differences in age, vitamin D levels, or VDR FokI polymorphism between the groups (P > .05). However, the TT genotype of VDR FokI polymorphism was significantly associated with vitamin D deficiency (< 20 ng/mL) (OR, 6.15; 95% CI, 1.51 - 25.14; P < .05).
 Conclusions: Vitamin D levels and genotype of VDR FokI polymorphisms were similar between the osteoporotic and non-osteoporotic postmenopausal women. The TT genotype of VDR FokI polymorphism showed a significant association with vitamin D deficiency. Therefore, TT genotype of VDR FokI polymorphism may be used to predict risk of vitamin D deficiency.
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Oliveira, Ana Carolina R. de, Carolina A. Magalhães, Cristina M. G. Loures, et al. "BsmI polymorphism in the vitamin D receptor gene is associated with 25-hydroxy vitamin D levels in individuals with cognitive decline." Arquivos de Neuro-Psiquiatria 76, no. 11 (2018): 760–66. http://dx.doi.org/10.1590/0004-282x20180116.
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ABSTRACT Elderly people are at a high risk of developing vitamin D (VitD) deficiency due to both decreased intake and cutaneous synthesis. Most of the biological actions of VitD are mediated by the vitamin D receptor (VDR), which is present in neurons and glial cells of the hippocampus, and in the cortex and subcortical nuclei, essential areas for cognition. It is known that VDR gene polymorphisms may decrease the VDR affinity for VitD. Objective: The present study aimed to investigate the influence of VitD levels on cognitive decline in patients with dementia due to Alzheimer's disease (AD, n = 32) and mild cognitive impairment (MCI, n = 15) compared to cognitively healthy elderly (n = 24). We also evaluated the association of VDR gene polymorphisms with cognitive disturbance. Methods: Four polymorphisms on the VDR gene were studied, namely, BsmI, ApaI, FokI and TaqI, by polymerase chain reaction-restriction fragment length polymorphism. Serum levels of 25-hydroxy vitamin D (25(OH)D) were determined by high performance liquid chromatography. Results: No significant difference in 25(OH)D levels or genotypic/allelic frequencies was observed between the groups. Deficiency of 25(OH)D was more frequently observed in women. The AA/AG genotypes of the BsmI polymorphism was associated with sufficient 25(OH)D levels, while the GG genotype of this same polymorphism was associated to insufficient levels in the cognitively-impaired group (individuals with AD or MCI). Conclusions: The data obtained do not confirm the relationship between reductions of VitD levels, polymorphisms in the VDR gene, and altered cognitive function in this sample. However, the data indicate that BsmI polymorphism in the VDR gene is associated with the VitD levels in individuals with cognitive decline.
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Vranic, Vladimir, Katarina Zeljic, Debora Stefik, et al. "Vitamin D receptor gene variants contribute to hip and knee osteoarthritis susceptibility." Archives of Biological Sciences 73, no. 2 (2021): 247–55. http://dx.doi.org/10.2298/abs210329019v.
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Vitamin D receptor (VDR) gene polymorphisms could play a significant role in the susceptibility and pathogenesis of osteoarthritis (OA), the most common degenerative joint disorder in humans. The current study involved 94 OA patients and 100 healthy, asymptomatic controls. VDR variants FokI (rs2228570), TaqI (rs731236), ApaI (rs7975232) and EcoRV (rs4516035) were genotyped using TaqMan-based real-time PCR. Adjusted odds ratio (OR) analysis showed that VDR TaqI and FokI polymorphisms are significantly associated with susceptibility to OA (OR=1.986, P=0.001 and OR=1.561, P=0.017, respectively). Joint-specific analysis showed that the VDR TaqI polymorphism was associated with risk of hip OA (OR=1.930, P=0.005) and knee OA (OR=1.916, P=0.028), while the VDR FokI polymorphism was associated with higher risk of knee OA (OR=2.117, P=0.012). VDR TaqI and FokI polymorphisms are associated with the occurrence of persistent pain (P=0.005 and P=0.027, respectively), while ApaI was associated with a family history of OA (p=0.004). The VDR FokI and TaqI genetic variants significantly contribute to osteoarthritis susceptibility, the occurrence of persistent pain, and potentially to joint-specific OA risk.
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Othman, Galawezh Obaid. "VDR Gene Polymorphisms in Kurdish Population and Its Relation to T1DM in Erbil-Iraq." Cellular and Molecular Biology 68, no. 1 (2022): 8–13. http://dx.doi.org/10.14715/cmb/2022.68.1.2.
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This research assessed the relationship among type 1 diabetes VDR gene polymorphisms (ApaI and TaqI) in the Kurdish population in Erbil-Iraq. Forty individuals with type 1 diabetes and thirty healthy people were recruited from the Kurdish population in Erbil, Iraq. Genomic DNA was taken from blood, being genotyped for SNP (single nucleotide polymorphisms). The distribution of VDR polymorphisms in two restriction fragment length polymorphism sites, TaqI and ApaI, was investigated in patients and controlled by a polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) utilizing ApaI and TaqI restriction enzymes. Using SPSS software (V15.0), the genotype dispersal and allelic incidences in patients and controls were compared. VDR polymorphism genotype dispersal and allele incidences vary dramatically among patients and controls. The results confirmed that the genotype GT in SNP ApaI was a risk factor among type 1 diabetes mellitus patients' combination that imparted the strongest susceptibility to T1DM (P=0.00023). Still, the SNP TaqI showed no relevance between cases and controls (P=0.35). Our findings indicate that VDR gene polymorphisms in the combination of genotypes are related to an increased risk of T1DM in the Kurdish community and warrant further investigation as a possible genetic risk marker for T1DM. More research is needed to corroborate this finding, particularly the VDR gene, which was studied for the first time in the Kurdish population.
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Magiełda-Stola, Justyna, Grażyna Kurzawińska, Marcin Ożarowski, Tomasz M. Karpiński, Krzysztof Drews, and Agnieszka Seremak-Mrozikiewicz. "The Significance of VDR Genetic Polymorphisms in the Etiology of Preeclampsia in Pregnant Polish Women." Diagnostics 11, no. 9 (2021): 1698. http://dx.doi.org/10.3390/diagnostics11091698.
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For the first time in the Polish population, we aimed to investigate associations between the VDR gene single-nucleotide polymorphisms (SNPs) BsmI (rs15444410), ApaI (rs7975232), FokI (rs19735810), and TaqI (rs731236) and the development of preeclampsia (PE). A case–control study surveyed 122 preeclamptic and 184 normotensive pregnant women. The polymerase chain reaction–restriction fragment length polymorphism (PCR-RFLP) method was performed to examine the maternal VDR FokI, BsmI, TaqI, and ApaI polymorphisms. The VDR BsmIAA homozygous genotype was statistically significantly more frequent in preeclamptic women compared to the control group (p = 0.0263), which was also associated with a 2-fold increased risk of PE (OR = 2.06, p = 0.012). A correlation between the VDR BsmI polymorphism with systolic and diastolic blood hypertension was noted. Furthermore, 3-marker haplotype CTA (TaqI/ApaI/BsmI) was associated with significantly higher systolic (p = 0.0075) and diastolic (p = 0.0072) blood pressure. Association and haplotype analysis indicated that the VDR BsmI A allele could play a significant role in the PE pathomechanism and hence could be a risk factor for PE development in pregnant Polish women. These results indicate the importance of the VDR BsmI polymorphism and reveal that this variant is closely associated with a higher predisposition to hypertension.
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Bograya, M. M., M. A. Vulf, L. A. Safiullina, et al. "VDR gene polymorphisms rs731236 and rsS2228570 affect vitamin D levels in people of the Kaliningrad region." Russian Journal of Immunology 27, no. 4 (2024): 995–1000. http://dx.doi.org/10.46235/1028-7221-16881-vgp.
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Vitamin D is an essential micronutrient that is involved in numerous biological processes. It not only keeps bones healthy, but also has a protective effect on the cardiovascular system, the pancreas and fatty tissue. Around 50% of the world’s population suffers from vitamin D deficiency or insufficiency. The prevalence of these diseases is significantly higher in obese people, regardless of age and place of residence. The presence of polymorphisms in the VDR gene (vitamin D receptor) can explain individual differences in the concentration of vitamin D 25(OH) in blood serum. Of particular interest are the effects of the polymorphisms rs731236 and rs2228570 on vitamin levels. Thus, the VDR polymorphism rs731236 is a synonymous substitution, whereas the polymorphism rs2228570 is a non-synonymous substitution. The article investigated the polymorphisms of the VDR gene rs2228570 (T/C), rs731236 (T/C) and determined their association with blood vitamin D levels in people from the Kaliningrad region with different body mass index (BMI). The material for the study was venous blood taken in the morning on an empty stomach from 232 people (mean age 50±13.5 years, 103 men and 129 women). The vitamin D content in the blood was determined by ELISA and the polymorphisms of the VDR gene were analyzed by PCR. In individuals with a BMI 30 kg/m2, changes in the lipid profile and liver function tests were recorded. The vitamin D level did not depend on the BMI of the study participants. Significant changes in blood vitamin D levels were found depending on the distribution of the VDR genotype. Vitamin D levels were higher in individuals with the CC genotype than in the TT and CT genotypes of the rs2228570 polymorphism and did not depend on BMI. In contrast, the presence of the rs731236 polymorphism in the VDR gene is associated with BMI. In obesity, vitamin D levels are therefore only reduced in people with the TT genotype of the rs731236 polymorphism, but not in people with the CC and TC genotype.
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Ciocarlie, Tudor, Alexandru Cătălin Motofelea, Nadica Motofelea, et al. "Exploring the Role of Vitamin D, Vitamin D-Dependent Proteins, and Vitamin D Receptor Gene Variation in Lung Cancer Risk." International Journal of Molecular Sciences 25, no. 12 (2024): 6664. http://dx.doi.org/10.3390/ijms25126664.
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Lung cancer has an unfavorable prognosis with a rate of low overall survival, caused by the difficulty of diagnosis in the early stages and resistance to therapy. In recent years, there have been new therapies that use specific molecular targets and are effective in increasing the survival chances of advanced cancer. Therefore, it is necessary to find more specific biomarkers that can identify early changes in carcinogenesis and allow the earliest possible treatment. Vitamin D (VD) plays an important role in immunity and carcinogenesis. Furthermore, the vitamin D receptor (VDR) regulates the expression of various genes involved in the physiological functions of the human organism. The genes encoding the VDR are extremely polymorphic and vary greatly between human populations. To date, there are significant associations between VDR polymorphism and several types of cancer, but the data on the involvement of VDR polymorphism in lung cancer are still conflicting. Therefore, in this review, our aim was to investigate the relationship between VDR single-nucleotide polymorphisms in humans and the degree of risk for developing lung cancer. The studies showcased different gene polymorphisms to be associated with an increased risk of lung cancer: TaqI, ApaI, BsmI, FokI, and Cdx2. In addition, there is a strong positive correlation between VD deficiency and lung cancer development. Still, due to a lack of awareness, the assessment of VD status and VDR polymorphism is rarely considered for the prediction of lung cancer evolution and their clinical applicability, despite the fact that studies have shown the highest risk for lung cancer given by TaqI gene polymorphisms and that VDR polymorphisms are associated with more aggressive cancer evolution.
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Dakota, Iwan, Muhamad Fajri Adda’i, Rido Maulana, Ignatius Ivan, Renan Sukmawan, and Bambang Widyantoro. "Association between vitamin D receptor gene polymorphism and essential hypertension: An updated systematic review, meta-analysis, and meta-regression." PLOS ONE 19, no. 12 (2024): e0314886. https://doi.org/10.1371/journal.pone.0314886.
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The association between Vitamin D Receptor (VDR) gene polymorphisms and essential hypertension (EH) remains controversial. We searched databases (Cochrane Library, EBSCO, EMBASE, LILACS, ProQuest, PubMed, Science Direct, Springer) for studies on VDR gene polymorphisms and EH until May 30, 2024, following PRISMA guidelines. RevMan 5.4.1 provided pooled odds ratio (OR) under Hardy-Weinberg Equilibrium based on allele, additive, dominant, and recessive genetic models. Meta-regression was performed using Comprehensive Meta Analysis V3. Twenty-two studies from thirteen countries were analyzed. The recessive model suggested lower EH risk in individuals with the recessive allele (bb) of BsmI (OR: 0.81; 95%CI, 0.69 to 0.94, p = 0.007; I2 = 35%, p = 0.13). No significant associations were found for FokI, ApaI, and TaqI polymorphisms. Methodological quality significantly influenced EH risk associated with the FokI polymorphism across allele, additive, and dominant models (All p<0.0005). Male proportion influenced EH risk in the additive model for the FokI polymorphism (p = 0.0235), while age impacted risk in the recessive model (p = 0.0327). FokI polymorphism’s influence on EH risk varies by sex, age, and study quality. BsmI polymorphism is independently associated with lower EH risk in recessive homozygotes, with no significant associations found for ApaI and TaqI polymorphisms.
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Gentil, Paulo, Tulio Cesar de Lima Lins, Ricardo Moreno Lima, et al. "Vitamin-D-Receptor Genotypes and Bone-Mineral Density in Postmenopausal Women: Interaction with Physical Activity." Journal of Aging and Physical Activity 17, no. 1 (2009): 31–45. http://dx.doi.org/10.1123/japa.17.1.31.
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The current study investigated the association between vitamin-D-receptor (VDR) genotypes with bone-mineral density (BMD) and its interaction with physical activity level (PAL). Individuals in a sample of 192 volunteers (67.84 ± 5.23 years) underwent BMD evaluation and were genotyped for VDR ApaI, BsmI, FokI, and TaqI polymorphisms. Haplotypes were reconstructed through expectation-maximization algorithm, and regression-based haplotype-specific association tests were performed with studied phenotypes. None of the polymorphisms were associated with BMD at any site; however, haplotype was associated with femoral-neck and Ward’s-triangle BMD. Interaction between PAL and VDR genotypes was significant for the FokI polymorphism at femoral-neck and Ward’s-triangle BMD. The FokI T/T genotype was associated with higher BMD in active women. It was concluded that VDR haplotypes, but not genotypes, are associated with femoral-neck and Ward’s-triangle BMD in post-menopausal women. Moreover, the results suggest that VDR FokI polymorphism might be a potential determinant of BMD response to physical activity.
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Deswal, Ritu, Smiti Nanda, and Amita Suneja Dang. "Unveiling the association between Vitamin D Receptor and Poly Cystic Ovary Syndrome – a systematic review and meta-analysis." International Journal for Vitamin and Nutrition Research 87, no. 3-4 (2017): 207–18. http://dx.doi.org/10.1024/0300-9831/a000298.
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Abstract. Background: Low Vitamin D status observed in the populations globally and its associations with diverse systems have kindled the interest for Vitamin D in medical literature in last two decades. Accumulating evidence manifest that deficiency of Vitamin D might be a causal factor in the pathogenesis of various features of Poly Cystic Ovary Syndrome (PCOS). This notion is supported by the fact that > 3 % of the human genome is regulated by vitamin D receptor (VDR). Therefore, this meta-analysis was carried out to quantify the magnitude of risk associated with VDR polymorphisms (BsmI, TaqI, FokI and ApaI) and PCOS susceptibility. Methods: Pub-med, EMBASE, Cochrane database, Science direct, Scirus, ISI web of knowledge and Google scholar were searched for all years until July 2016. The case control studies related to VDR polymorphism and PCOS risk were selected according to inclusion and exclusion criteria. Nine studies of the initial 553 hits reporting VDR polymorphism in PCOS were included. All statistical analysis was performed using the STATA 11.0 software and odd ratio with 95 % confidence intervals was used as effect size to assess the strength of associations. Results: Nine studies comprising 1558 cases and 1033 controls were included in this meta-analysis. Significant association between VDR Fok1 polymorphisms and PCOS risk was observed. In further stratified analysis, an increased risks were observed among Asian and African populations for Taq1 polymorphism. Apa1 and Bsm1 polymorphism was found not to be a risk factor for PCOS susceptibility. Conclusion: The FokI polymorphism is found to be a significant risk factor for PCOS.
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Mohamed, Amal A., Shorouk Moussa, Mahmoud M. Shaheen, et al. "Association Between Vitamin D Receptor Gene Polymorphisms and Helicobacter Pylori Infection." Open Biomarkers Journal 10, no. 1 (2020): 8–14. http://dx.doi.org/10.2174/1875318302010010008.
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Background & Aims: Human genetic polymorphism has been reported in the susceptibility and clinical development of infection. In this regard, this study aimed to investigate the link between Vitamin D Receptor (VDR) gene polymorphism and H. pylori infection. Materials and Methods: This cross-sectional study was conducted on 224 adult patients with upper gastrointestinal symptoms who underwent an upper gastrointestinal endoscopy between July 2017 and May 2019 in two major university hospitals. All patients were evaluated for helicobacter pylori infection. Two gastric antral biopsy specimens were taken from each patient. One of those Biopsy specimens was evaluated for histopathology examination and the other one was immersed in a saline solution ready for genomic DNA extraction. Results: There were statistically significant differences between different genotypes of VDR rs7975232 polymorphism between H. pylori infected and non-infected groups (CC was higher in H. pylori negative and AC and AA were the most common in H. pylori positive group). There were statistical differences between different genotypes of VDR rs2228570 between H. pylori infected and non-infected groups (TT was higher in H. pylori negative and CT and CC were the most common in H. pylori positive group). Regarding VDR rs 7975232 gene polymorphisms; the (A) allele was significantly higher H. pylori infected, while (C) allele was significantly higher in uninfected patients. Regarding VDR rs 2228570 gene polymorphisms; the (C) allele was significantly higher H. pylori infected, while (T) allele was significantly higher in uninfected patients. Conclusion: There is a possible association between the FokI and Apal VDR polymorphism and H. pylori infection.
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Yu, Miao, Qian-Zhou Jiang, Zhe-Yi Sun, Yuan-Yuan Kong, and Zhi Chen. "Association between Single Nucleotide Polymorphisms in Vitamin D Receptor Gene Polymorphisms and Permanent Tooth Caries Susceptibility to Permanent Tooth Caries in Chinese Adolescent." BioMed Research International 2017 (2017): 1–7. http://dx.doi.org/10.1155/2017/4096316.
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Purpose. Dental caries is a multifactorial infectious disease. In this study, we investigated whether single nucleotide polymorphisms (SNPs) in vitamin D receptor (VDR) gene were associated with susceptibility to permanent tooth caries in Chinese adolescents. Method. A total of 200 dental caries patients and 200 healthy controls aged 12 years were genotyped for VDR gene polymorphisms using the PCR-restriction fragment length polymorphism (PCR-RFLP) assay. All of them were examined for their oral and dental status with the WHO criteria, and clinical information such as the Decayed Missing Filled Teeth Index (DMFT) was evaluated. Genomic DNA was extracted from the buccal epithelial cells. The four polymorphic SNPs (Bsm I, Taq I, Apa I, and Fok I) in VDR were assessed for both genotypic and phenotypic susceptibilities. Results. Among the four examined VDR gene polymorphisms, the increased frequency of the CT and CC genotype of the Fok I VDR gene polymorphism was associated with dental caries in 12-year-old adolescent, compared with the controls (X2 = 17.813, p≤0.001). Moreover, Fok I polymorphic allele C frequency was significantly increased in the dental caries cases, compared to the controls (X2 = 14.144, p≤0.001, OR = 1.730, 95% CI = 1.299–2.303). However, the other three VDR gene polymorphisms (Bsm I, Taq I, and Apa I) showed no statistically significant differences in the caries groups compared with the controls. Conclusion. VDR-Fok I gene polymorphisms may be associated with susceptibility to permanent tooth caries in Chinese adolescent.
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Binh, Tran Quang, Vu Thi Thu Hien, Nguyen Cong Khan, et al. "Relationship between vitamin D receptor gene polymorphisms and anemia in postmenopausal Vietnamese women." Asian Biomedicine 4, no. 6 (2010): 869–75. http://dx.doi.org/10.2478/abm-2010-0114.
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Abstract Background: Both in vitro and in vivo studies have shown that calcitriol, the active form of vitamin D, is involved in hematopoiesis. Vitamin D receptor (VDR) gene has been suggested as one of the candidate genes for anemia. Objective: Investigate relationship between anemia and the commonly studied polymorphisms of VDR gene (FokI, BsmI, ApaI and TaqI) in terms of genotype and haplotype in Vietnamese. Methods: A case-control study including 132 postmenopausal women without chronic kidney diseases was designed to investigate the relationship between VDR polymorphism and anemia. Four single nucleotide polymorphisms (SNPs) FokI (rs2228570), BsmI (rs1544410), ApaI (rs7975232), and TaqI (rs731236) were typed by polymerase chain reaction and restriction fragment length polymorphism method. Results: Genotype distributions of four SNPs were in Hardy-Weinberg equilibrium in both anemia and control groups. The SNPs at the 3’end of the VDR gene (BsmI, ApaI and TaqI) exhibited a strong linkage disequilibrium. There was no significant association between anemia and VDR polymorphism in terms of allele, genotype, and haplotype in the analyses unadjusted or adjusted for the covariates (age, body mass index, educational level, serum ferritin, iron and albumin). Conclusion: VDR gene did not influence anemia in postmenopausal women without chronic kidney disease. For further study on the association between VDR gene and anemia, the use of larger sample size, a prospective study design, and additional markers would enhance the reliability and validity of findings.
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Ilhan, Muzaffer, Bahar Toptas-Hekimoglu, Ilhan Yaylim, et al. "Investigation of the Vitamin D Receptor Polymorphisms in Acromegaly Patients." BioMed Research International 2015 (2015): 1–7. http://dx.doi.org/10.1155/2015/625981.
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Objective. The genetic structural alterations in the majority of somatotroph adenomas are not clarified and the search for novel candidate genes is still a challenge. We aimed to investigate possible associations between vitamin D receptor (VDR) polymorphisms and acromegaly.Design, Patients, and Methods. 52 acromegaly patients (mean age45.7±1.9years) and 83 controls (mean age43.1±2.6years) were recruited to the study. VDR polymorphism was determined by polymerase chain reaction-based restriction fragment length polymorphism methods.Results. The distribution of VDR genotypes showed a significant difference in the frequencies of VDR FokI genotypes between patients and controls (P=0.034). VDR FokI ff genotype was significantly decreased in acromegaly patients (P=0.035) and carriers of FokI Ff genotype had a 1.5-fold increased risk for acromegaly (OR: 1.5, 95% CI: 1.07–2.1;P=0.020). IGF1 levels after treatment were significantly higher in patients carrying the Ff genotype compared to carrying ff genotype (P=0.0049). 25(OH)D3 levels were significantly lower in acromegaly patients (P<0.001).Conclusions. Our study suggests that VDR FokI genotypes might affect the development of acromegaly and VDR polymorphisms may play a role in the course of acromegaly as a consequence of altering hormonal status.
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Kudryavtseva, Elena V., Dinara A. Berezina, Daniil O. Kornilov, et al. "Some molecular-genetic determinants of premature aging in women." Consilium Medicum 26, no. 12 (2024): 809–14. https://doi.org/10.26442/20751753.2024.12.202970.
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Background. Accelerated biological aging is associated with age-related diseases and an increased risk of mortality. Genetic predisposition may be an important factor in this process. Aim. To determine the significance of genetic polymorphisms in the VDR and COL1A1 genes in accelerated aging. Materials and methods. The study included 100 women aged 20–35 years, divided into groups with accelerated (Group 1) and normal/slow (Group 2) aging rates. We assessed biological age using V.P. Voytenko's formula. Genetic polymorphisms analyzed were: VDR 283 AG (Bsml), VDR 2 AG (Fokl), COL1A1 1546 GT, COL1A1 -1997 CA. Results. The VDR 283 AG (AA) polymorphism was associated with accelerated aging, occurring more frequently in Group 1 (18% vs 4% in Group 2, p=0.025). The COL1A1 -1997 CA polymorphism was more prevalent in Group 2 (76% vs 56% in Group 1, p=0.035). A multifactorial model identified combinations of polymorphisms that predict accelerated or slow aging with an accuracy of 0.72. Conclusion. Genetic predisposition plays a significant role in accelerated aging. Analysis of VDR and COL1A1 polymorphisms can help identify the risk of premature aging and may serve as a basis for further research and the development of new approaches to prevent age-related diseases.
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Al-Ghafari, Ayat B., Khadijah S. Balamash, and Huda A. Al Doghaither. "Relationship between Serum Vitamin D and Calcium Levels and Vitamin D Receptor Gene Polymorphisms in Colorectal Cancer." BioMed Research International 2019 (August 26, 2019): 1–7. http://dx.doi.org/10.1155/2019/8571541.
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Background. Many epidemiological studies have shown that vitamin D deficiency is associated with various types of human cancers. The biological action of vitamin D and its metabolites is mediated by the transcription factor vitamin D receptor (VDR). The VDR gene is highly expressed in the colon and is involved in many biological functions. The aim of the current study was to assess the relationship between serum vitamin D metabolite and calcium levels with VDR polymorphisms in normal and colorectal cancer (CRC) patients. Methods. Fifty Saudi CRC patients and fifty controls were enrolled in the study. The levels of total vitamin D, 25(OH)D3, and calcium were measured in serum. Results. The homozygous genotype (aa) of the ApaI VDR polymorphism (rs7975232) was found to correlate with total serum vitamin D levels of CRC patients, while the heterozygous (Tt) TaqI VDR polymorphism (rs731236) was associated with serum calcium levels. In contrast, the BsmI and FokI VDR polymorphisms (rs1544410 and rs2228570, resp.) did not affect the serum levels of total vitamin D, 25-hydroxyvitamin D3, and calcium. Conclusion. Appropriate vitamin D levels were shown to be important in preventing the onset of CRC.
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El Omri, Naoual, Fadwa Mekouar, Youssef Sekkach, et al. "Serum vitamin D and vitamin D receptor gene polymorphism in Moroccan patients with systemic lupus erythematosus." International Journal of Research in Medical Sciences 5, no. 3 (2017): 811. http://dx.doi.org/10.18203/2320-6012.ijrms20170467.
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Background: Vitamin D plays an important role in the immunomodulation and could be involved in the development of autoimmune diseases such as systemic lupus erythematous (SLE). The study of the polymorphism of the Vitamin D Receptor (VDR) gene may be of interest in explaining the pathophysiology of SLE.Methods: In this study, we aimed to examine the characteristics of VDR gene BsmI polymorphism for the first time in Moroccan patients with SLE and their relationship with clinical manifestations of the disease. We also measured the serum level of 25-hyroxyvitamin D3 to assess its relation to such polymorphism.Results: The study included 66 SLE patients and 91 healthy controls. Our results showed that there were no differences observed in VDR genotypes and allelic distribution within the two groups. Both groups were in Hardy-Weinberg equilibrium, with no significant P values for the observed and expected genotype frequencies. 25-hyroxyvitamin D3 serum levels were the same in the two groups.Conclusions: Based on the results of the present study. We cannot verify any association between VDR gene BsmI polymorphism and SLE. This polymorphism could not be regarded as a genetic marker of the SLE. A larger study examining BsmI and other VDR gene polymorphisms is needed.
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Guo, Yicong, Yu Zhang, Xiangling Tang, Xionghao Liu, and Huilan Xu. "Association between Vitamin D receptor (VDR) gene polymorphisms and hypertensive disorders of pregnancy: a systematic review and meta-analysis." PeerJ 11 (April 25, 2023): e15181. http://dx.doi.org/10.7717/peerj.15181.
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Background Hypertensive disorders of pregnancy (HDP) are currently one of the major causes of pregnancy-related maternal and fetal morbidity and mortality worldwide. Recent studies provide evidence that maternal Vitamin D receptor (VDR) gene polymorphisms probably play a key role by affecting the biological function of vitamin D in some adverse pregnancy outcomes, while the relationship between the VDR gene polymorphisms and the risk of HDP remains controversial in current studies. This systematic review and meta-analysis aimed to comprehensively evaluate the association of the VDR gene polymorphisms with HDP susceptibility. Methods This meta-analysis follows the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) statement and a protocol has been registered in the PROSPERO (ID: CRD42022344383) before commencing this review. PubMed, Web of Science, Embase, and the Cochrane Library databases were searched until January 21, 2023. Case-control and cohort studies that reported the association of the VDR gene polymorphisms with HDP were included. The quality of the included studies was assessed using the Newcastle-Ottawa Scale (NOS) for non-randomized studies. The odds ratios (ORs) with corresponding 95% confidence intervals (CIs) of the five models (allele model, dominant model, recessive model, homozygous model, heterozygous model) were pooled respectively, and subgroup analysis was performed based on ethnicity. Results A total of ten studies were included. The VDR gene ApaI polymorphism was associated with HDP susceptibility in the dominant model (OR: 1.38; 95% CI [1.07–1.79]; P = 0.014) and the heterozygote model (OR: 1.48; 95% CI [1.12–1.95]; P = 0.006). In subgroup analysis, the heterozygote model (OR: 2.06; 95% CI [1.21–3.52]; P = 0.008) of the ApaI polymorphism was associated with HDP in Asians, but not in Caucasians. Conclusion The VDR gene ApaI polymorphism may be associated with HDP susceptibility. Insufficient evidence to support the existence of ethnic differences in this association.
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Taneja, Nancy, Rajesh Khadgawat, and Shalini Mani. "VITAMIN D RECEPTOR GENE POLYMORPHISMS AND HAPLOTYPE ANALYSIS IN TYPE 2 DIABETES MELLITUS PATIENTS FROM NORTH INDIA." Asian Journal of Pharmaceutical and Clinical Research 10, no. 10 (2017): 248. http://dx.doi.org/10.22159/ajpcr.2017.v10i10.20453.
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Objective: Vitamin D receptor (VDR) mediated Vitamin D signaling is important for expression of insulin gene and glucose transporters, which help in glucose uptake by cells. Current evidence suggests that four common polymorphisms (FokI, BsmI, ApaI, TaqI) of VDR gene are associated with Type 2 diabetes mellitus (T2DM) in different populations. However, there is a scarcity of data on VDR polymorphisms from Indian population.Methods: In the current study, total genomic DNA was isolated from 100 well-characterized T2DM patients and 100 healthy controls. We investigated the prevalence of FokI and ApaI polymorphisms in VDR gene of these patients by polymerase chain reaction-restriction fragment length polymorphism-based method. Taking help of our previous published data on TaqI and BsmI polymorphisms in same patients, the haplotype study was also conducted. Statistical analysis of data was performed using SPSS 21.0 software. Haplotype and linkage disequilibrium analysis was performed by Haploview software.Results: Both the wild (TT) and mutant (CC) genotype of FokI polymorphism showed a significant difference between patients and controls (p<0.001 and p<0.001, respectively). The frequency of mutant allele (C) was also significantly higher in T2DM patients than the controls (p<0.001). In case of ApaI, frequency of wild (GG) and mutant (CC) genotype was significantly different in patients and controls (p=0.017 and p=0.034). As per haplotype analysis, the CACT haplotype was predicted to be of significance in patients and consists of mutant alleles of three polymorphisms (FokI, BsmI, ApaI). Conclusion: Our study supports the association of FokI and ApaI polymorphism in T2DM. The haplotype analysis also indicates that the combinations of mutant allele of different VDR polymorphisms are probably responsible for increased susceptibility of these individuals toward T2DM.
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Araújo, Eduarda Pontes dos Santos, Severina Carla Vieira da Cunha Lima, Ony Araújo Galdino, Ricardo Fernando Arrais, Karla Simone Costa de Souza, and Adriana Augusto de Rezende. "Association of CYP2R1 and VDR Polymorphisms with Metabolic Syndrome Components in Non-Diabetic Brazilian Adolescents." Nutrients 14, no. 21 (2022): 4612. http://dx.doi.org/10.3390/nu14214612.
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Associations between vitamin D deficiency and metabolic syndrome (MS) have been reported; however, the underlying biological mechanisms remain controversial. The aim of this study was to investigate the associations of CYP2R1 and VDR variants with MS and MS components in non-diabetic Brazilian adolescents. This cross-sectional study included 174 adolescents who were classified as overweight/obese. Three CYP2R1 variants and four VDR variants were identified by allelic discrimination. The CYP2R1 polymorphisms, rs12794714 (GG genotype) (odds ratio [OR] = 3.54, 95% confidence interval [CI] = 1.24–10.14, p = 0.023) and rs10741657 (recessive model—GG genotype) (OR = 3.90, 95%CI = 1.18–12.92, p = 0.026) were significantly associated with an increased risk of MS and hyperglycemia, respectively. The AG + GG genotype (dominant model) of the rs2060793 CYP2R1 polymorphism was associated with hyperglycemia protection (OR = 0.28, 95%CI = 0.08–0.92, p = 0.037). Furthermore, the CC genotype (recessive model) of the rs7975232 VDR polymorphism was significantly associated with a risk of hypertension (OR = 5.91, 95%CI = 1.91–18.32, p = 0.002). In conclusion, the CYP2R1 rs12794714 polymorphism could be considered a possible new molecular marker for predicting the risk of MS; CYP2R1 rs10741657 polymorphism and VDR rs7975232 polymorphism are associated with an increased risk of diabetes and hypertension in adolescents with overweight/obesity.
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S. El-Shimi, Ola, Soheir A. Abdel Samea, Nahla M. Samy, and Sahar M. Fayed. "Association of Vitamin D Receptor Gene (FokI) (rs2228750) Polymorphism with Susceptibility to Tuberculosis." Egyptian Journal of Medical Microbiology EJMM29, no. 4 (2020): 75–81. http://dx.doi.org/10.51429/ejmm29410.
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Background: Genetic susceptibility has been suggested as an important explanation for individual risk for tuberculosis. The association between vitamin D receptor (VDR) FokI gene polymorphisms and the risk of tuberculosis have been studied in several populations; but results were inconsistent. Objectives: This study aimed to determine the influence of vitamin D status and frequency of association of VDR FokI (rs2228570) polymorphism on susceptibility to pulmonary tuberculosis. Methodology: A case-control study was conducted between 40 pulmonary tuberculosis patients and 40 control subjects. Serum vitamin D level and VDR FokI gene (rs2228570) polymorphism were tested. Results: Tuberculosis patients had significant lower vitamin D level compared to controls (P = 0.002). Patients showed significantly higher frequencies of VDR FokI (rs2228750) Ff, ff genotypes and f allele than controls (P = 0.023, 0.014, <0.001 respectively) with significant lower vitamin D level in patients with ff compared to patients with FF or Ff genotypes (P = 0.017). Excess smoking, vitamin D insufficiency and VDR FokI (rs2228750) (Ff+ff) genotypes were found predictors for susceptibility to tuberculosis infection. Conclusion: vitamin D deficiency plays a role as a risk factor for tuberculosis and VDR FokI (rs2228750) polymorphism may be partially responsible for host susceptibility to human tuberculosis in Egyptians.
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Obukhova, Olha A., Viktoriia Yu Harbuzova, Maryna M. Zavadska, et al. "ANALYSIS OF THE BLOOD HYPERCOAGULATION RISK IN PATIENTS WITH ISCHEMIC ATHEROTHROMBOTIC STROKE DEPENDING OF THE VDR GENE POLYMORPHISMS." Polski Merkuriusz Lekarski 51, no. 4 (2023): 334–38. http://dx.doi.org/10.36740/merkur202304106.
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Aim: of our study was the analysis of the blood hypercoagulation risk in patients with ischemic atherotrombotic stroke depending of the VDR gene polymorphisms. Materials and Methods: Blood of 170 patients with ischemic atherothrombotic stroke (IATS) and 124 healthy individuals (control group) was used for genotyping. Four polymorphisms (FokI, BsmI, ApaI, TaqI) of gene VDR were examined with PCR-RFLP methodology. Statistical analysis was performed by using SPSS-17.0 program. Results: Among patients with IATS who are carriers of the f/f genotype, FokI polymorphism of VDR gene by high thrombin time and a decrease in the rate of spontaneous fibrinolysis was registered. In individuals with the B/B genotype homozygous for the polymorphic variant, BsmI had significantly lower mean values of prothrombin and thrombin time and increased the rate of spontaneous fibrinolysis. The homozygotes for the A-allele ApaI polymorphism have 2.7 times higher risk of developing blood hypercoagulation than homozygotes for the a-allele was found. Conclusions: Biochemical signs of hypercoagulation syndrome among patients with IATS who are carriers of the f/f genotype of the FokI polymorphic variant and among B/B homozygotes of the BsmI polymorphic variant and homozygotes for the A-allele of the AрaI polymorphism of the VDR gene were registered.
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Farnoush, Nazila, Mehdi Khosravi-Mashizi, Amirhossein Rahmani, et al. "Updated Meta-Analysis of VDR FokI and TaqI Variants and Their Association with Melanoma Risk." Acta Medica (Hradec Kralove, Czech Republic) 67, no. 4 (2024): 113–24. https://doi.org/10.14712/18059694.2025.8.
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Background: Research suggests that melanoma patients with low vitamin D levels exhibit a higher risk of tumor ulceration and increased tumor mitotic rates. This has led to investigations into the vitamin D receptor (VDR) gene concerning its potential link to melanoma susceptibility. This meta-analysis aims to explore the association between VDR FokI and TaqI polymorphisms and melanoma risk, with an emphasis on the need for research in diverse populations to enhance our conclusions regarding interactions between skin phenotypes and VDR variations. Methods: A comprehensive literature search was conducted in databases, including PubMed, Scopus, and Web of Science, for studies linking VDR polymorphisms to melanoma risk, up to February 1, 2024. Keywords used included “Melanoma”, “VDR”, and various genetic terms. Quantitative synthesis was performed with Comprehensive Meta-Analysis (Version 4.0) and a significance threshold set at p < 0.05. Results: A total of twenty-one case-control studies involving 8,813 melanoma cases and 7,973 controls were included. Twelve studies on FokI had 4,642 cases and 4,534 controls, while nine TaqI studies included 4,171 cases and 3,439 controls. The results show a significant association between the VDR FokI polymorphism and increased melanoma risk across four genetic models (allele model: OR = 1.128, 95% CI 1.026–1.241; P = 0.013; homozygote model: OR = 1.166, 95% CI 1.020–1.332; P = 0.025; heterozygote model: OR = 1.255, 95% CI 1.046–1.507; P = 0.015; dominant model: OR = 1.243, 95% CI 1.052–1.470; P = 0.011). In contrast, the TaqI polymorphism showed no significant association with melanoma risk in the general population. Conclusions: This meta-analysis suggests that the VDR FokI polymorphism is linked to an increased susceptibility to melanoma, while the TaqI variant does not show a significant association. Future research should explore the interactions between VDR polymorphisms, skin phenotypes, and melanoma risk in diverse populations, with larger and more varied studies needed to confirm these findings and enhance our understanding of genetic factors affecting melanoma susceptibility.
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Yuliawati, Tri Hartini, Dewi Ratna Sari, Citrawati Dyah Kencono Wungu, et al. "The role of vitamin d receptor gene polymorphisms in obesity: a systematic review and meta-analysis." Salud, Ciencia y Tecnología 5 (January 1, 2025): 1072. http://dx.doi.org/10.56294/saludcyt20251072.
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Introduction: Obesity has become a major global issue since it can increase the risk of fatal disease. Genetic variation in the vitamin D receptor (VDR) gene is a potential candidate for obesity, though findings are inconclusive. Objectives: This meta-analysis aims to determine the association between VDR polymorphisms and obesity risk.Methods: All relevant studies from 1990 to January 2024 were screened using PubMed, Web of Science, Science Direct, and Scopus. This meta-analysis included studies meeting PROSPERO-registered eligibility criteria. Pooled odds ratios (OR) with 95% confidence intervals (CI) for six VDR gene polymorphisms (BsmI, FokI, TaqI, ApaI, and Cdx2) were generated using RevMan 5.4.Results: This meta-analysis included 23 studies with 5715 obese/overweight and 4887 non-obese individuals from China, Malaysia, Egypt, Turkey, India, Iran, UAE, Saudi Arabia, Czech Republic, Greece, USA, Denmark, Hungary, and Belgium. The findings show an association between VDR ApaI polymorphism and reduced obesity risk in homozygous models [aa vs. AA: OR=0.76, CI=0.60-0.97; P=0.03]. The TaqI variant is linked to increased obesity risk in Europeans under allelic [t vs. T: OR=1.33, CI=1.11-1.60; P=0.002], homozygous [tt vs. TT: OR=1.68, CI=1.13-2.50; P=0.010], dominant [tt vs. TT+Tt: OR=1.47, CI=1.07-2.03; P=0.02], and recessive [Tt+tt vs. TT: OR=1.43, CI=1.08-1.89; P=0.01] models.Conclusions: This meta-analysis suggests the aa genotype of VDR ApaI polymorphism may protect against obesity across populations. In Europeans, the t allele of VDR TaqI polymorphism is identified as an obesity risk factor
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Pogozheva, A. V., E. Yu Sorokina, and A. A. Sokolnikov. "Associations between obesity and vitamin D availability depending on the rs2228570 polymorphism of the VDR gene and rs9939609 polymorphism of the FTO gene in the midland and the Extreme North of Russia." Almanac of Clinical Medicine 47, no. 2 (2019): 112–19. http://dx.doi.org/10.18786/2072-0505-2019-47-015.
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Background: It has been shown that vitamin D availability depends on the body mass index (BMI). Genetic polymorphisms contribute to the development of vitamin D deficiency.Aim: To study the availability of vitamin D in the population of various regions of the Russian Federation, depending on the BMI values and the rs2228570 polymorphisms of the VDR gene and rs9939609 of the FTO gene.Materials and methods: The rs2228570 polymorphisms of the VDR gene and rs9939609 of the FTO gene were identified in 311 subjects (136, from the midland of Russia, and 175 from the Far North). Serum 25-hydroxyvitamin D [25(OH)D] levels were measured by an immunoenzyme assay in the autumn and winter seasons. Genotyping was performed with the allele-specific amplification and real-time detection of results using TaqMan probes complementary to the polymorphic DNA segments and the CFX96 Real Time System amplifier (Bio-Rad, USA). We studied associations of the rs9939609 polymorphism of the fat mass and obesity-associated (FTO) gene located at 16q12.2, as well as the rs2228570 polymorphism of the vitamin D receptor gene (VDR) located at 12q13.11.Results: Frank vitamin D deficiency (serum 25 (OH) D level<20 ng/ml) was observed in 39.7% (54/136) of the sample from the midland, in 40% (14/35) of the migrants and in 30.7% (43/140) of the indigenous inhabitants of the Far North (Nenets). Obese residents of the midland Russia had significantly lower serum 25(OH)D levels, and the indigenous population of the Far North had significantly higher levels than those with BMI<30 (р<0.05). In the indigenous population of the Northern Region, there was a significant association between vitamin D deficiency and C allele of the rs2228570 polymorphism of the VDR gene (odds ratio [OR] 2.5, 95% confidence interval [CI] 1.46–4.27, p=0.0006) and the AA genotype of the rs9939609 polymorphism of the FTO gene (OR 8.83, 95% CI 0.94–82.5, p=0.02).Conclusion: The association between obesity and vitamin D availability in the individuals with the rs2228570 polymorphism of the VDR gene and the rs9939609 polymorphism of the FTO gene depends on their ethnicity.
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Yenni, R. Wratsangka, E. Herwana, J. V. Kalumpiu, and B. P. Liman. "Supplementary vitamin D3 and vitamin D receptor polymorphisms affect blood vitamin D levels in type-2 diabetes mellitus in Indonesia." Rwanda Medical Journal 81, no. 2 (2024): 47–57. http://dx.doi.org/10.4314/rmj.v81i2.5.
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INTRODUCTION: There are no data on vitamin D receptor (VDR) gene single nucleotide polymorphism (SNP) influence on blood 25-hydroxy-cholecalciferol [25(OH)D] levels after supplementary vitamin D in Indonesian type 2 diabetes mellitus (T2DM) patients. This study evaluated the effects of the supplementary vitamin D3 and VDR gene SNPs rs1555410 and rs2228570 on blood 25(OH)D levels in T2DM cases. METHODS: A randomized, double-blind placebo-controlled trial (RDPCT) was conducted at one research setting using 85 T2DM subjects divided into vitamin D group (VDG) and control group (CG) and receiving 5,000 IU/day vitamin D3 (cholecalciferol) or placebo once daily for 84 days. Levels of 25(OH)D were determined baseline and after supplementary vitamin D3 administration for 84 days. Circulatory 25(OH)D was assayed using ELISA. VDR polymorphisms were detected using sequencing. RESULTS: Post-supplementary blood 25(OH)D rose appreciably from baseline in VDG for VDR rs1544410 genotypes G/G (p=0.001) and G/A (p=0.010), and in VDR rs2228570 genotypes T/T (p=0.012), T/C (p<0.001), and C/C (p=0.001). Post-supplementary VDG still contained 30.3% of subjects not reaching blood 25(OH)D ≥30 ng/mL. In attaining blood 25(OH)D ≥30 ng/mL post-supplementation, VDR rs2228570 genotype T/C differed significantly from T/T (52.4% v. 100%; p=0.027), but there were no appreciable differences between genotypes C/C and T/T (78.6% v. 100%; p=0.273), as well as between VDR rs1544410 genotypes G/G and G/A (67.5% v. 100%; p=0.542). CONCLUSION: Only 52.4% of subjects with VDR rs2228570 genotype T/C achieved sufficiently high blood 25(OH)D levels. VDR rs2228570 polymorphisms apparently influence T2DM response to supplementary vitamin D.
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Ak, Duygu Gezen, Hakkí Kahraman, Erdinç Dursun, et al. "Polymorphisms at the Ligand Binding Site of the Vitamin D Receptor Gene and Osteomalacia." Disease Markers 21, no. 4 (2005): 191–97. http://dx.doi.org/10.1155/2005/645260.
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Vitamin D receptor (VDR) gene polymorphisms have been suggested as possible determinants of bone mineral density (BMD) and calcium metabolism. In this study, our aim was to determine whether there is an association between VDR gene polymorphism and osteomalacia or not. We determined ApaI and TaqI polymorphisms in the vitamin D receptor gene in 24 patients with osteomalacia and 25 age-matched healthy controls. Serum calcium, phosphorus, ALP, PTH, 25OHD levels were also examined. We used PCR and RFLP methods to test for an association between osteomalacia and polymorphisms within, intron 8 and exon 9 of the VDR gene. When the control and patients were compared for their ApaI and TaqI genotypes there was no relationship between VDR gene allelic polymorphisms and osteomalacia. Whereas a nearly significant difference for A allele was found in the allellic distribution of the patients (p= 0.08). Also no association between biochemical data and VDR gene polymorphisms was observed.
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Mohammed, Amal Ahmed, Dina M. Abo El-Matty, Rola Abdel-Azeem, et al. "Allelic Discrimination of Vitamin D Receptor Polymorphisms and Risk of Type 2 Diabetes Mellitus: A Case-Controlled Study." Healthcare 11, no. 4 (2023): 485. http://dx.doi.org/10.3390/healthcare11040485.
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(1) Background: Type 2 diabetes mellitus (T2DM) is one of the rapidly growing healthcare problems, and several vitamin D receptor (VDR) polymorphisms seem to modulate the risk of T2DM. Our research was designed to investigate the allelic discrimination of VDR polymorphisms and T2DM occurrence risk. (2) Methods: This case-control research included 156 patients with T2DM and 145 healthy control subjects. Most of the study population were males 56.6% vs. 62.8% in the case and control groups, respectively. Genotyping for VDR single nucleotide polymorphisms (SNPs), rs228570 (Fok1), rs7975232 (Apa1), and rs1544410 (Bsm1) was compared between both groups. (3) Results: There was a negative link between vitamin D levels and insulin sensitivity. A significant difference was noted in the allelic discrimination of VDR polymorphism rs228570 and rs1544410 between the study groups (p < 0.001). No difference was observed in the allelic discrimination of VDR polymorphism rs7975232 between the groups (p = 0.063). Moreover, T2DM patients had significantly higher levels of fasting blood sugar (FBS), glycated hemoglobin HbA1c, 2-h post-prandial blood sugar (PP), serum glutamic oxaloacetic transaminase (SGOT), serum glutamic-pyruvic transaminase (SGPT), total cholesterol, and triglycerides (p < 0.001), while High-Density Lipoprotein (HDL) Cholesterol (HDL-C) was significantly decreased (p = 0.006). (4) Conclusions: VDR polymorphisms had a positive association with T2DM risk among the Egyptian population. Further large-scale research using deep sequencing of samples is strongly urged to investigate different vitamin D gene variants and interactions, as well as the influence of vitamin D on T2DM.
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Shereen, Muhammad Irfan, Mohsin Shah, Sami Siraj, Mohsin Ali, Muhammad Adnan Shereen, and Abeer Kazmi. "Association of Vitamin D and its Receptor (VDR) Gene Single Nucleotide Polymorphism (ApaI and TaqI) with Risk of Psoriasis." ANNALS of JINNAH SINDH MEDICAL UNIVERSITY 6, no. 2 (2020): 37–43. http://dx.doi.org/10.46663/ajsmu.v6i2.37-43.
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Introduction: Psoriasis is one of the skin related inflammatory diseases that affects a low percentage of population around the globe. Vitamin D through Vitamin D Receptor (VDR) also regulates the function of white blood cells in psoriasis. Mutations in VDR gene have shown abnormalities in immune responses like psoriatic arthritis. To determine the possible association between Vitamin D Receptor (ApaI and TaqI) gene polymorphism and psoriasis, a case-control study was designed and conducted at the Institute of Basic Medical Sciences (IBMS), Khyber Medical University (KMU) Peshawar and health units of Peshawar. Method: This multi-centre study included 220 samples (110 cases of psoriatic disease and 110 healthy controls). DNA was extracted using modified salting out protocol. VDR gene polymorphisms (TaqI and ApaI) were genotyped using amplification refractory mutation system using polymerase chain reaction (ARMSPCR) method. Results were statistically analyzed. Result: Our study showed significant association between VDR gene (TaqI, ApaI) polymorphisms and psoriasis with p-value of 0.009 (0.0019 and 0.0162) and odds ratios (95% confidence interval) for psoriasis of CC vs CT (TaqI) and AA vs AC (ApaI) were 2.963 (95% CI: 1.508-5.743) and 2.293 (95% CI:1.22-4.246) respectively. Conclusion: Findings indicate that VDR gene polymorphisms (TaqI, ApaI) are significantly associated with onset and progression of psoriasis, and mutations in these loci are risk factors for development of psoriasis. Key words: Psoriasis, VDR polymorphism, TaqI, ApaI, South Asia, Pakistan
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Karmila, Ariesta, Muhammad Nazir, Kiagus Yangtjik, and Yuwono Yuwono. "Serum vitamin D and vitamin D receptor gene FokI polymorphisms in children with tuberculosis." Paediatrica Indonesiana 55, no. 5 (2015): 263. http://dx.doi.org/10.14238/pi55.5.2015.263-7.
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Background Vitamin D deficiency and vitamin D receptor (VDR) gene polymorphisms are strongly associated with tuberculosis (TB) susceptibility in countries with four seasons. As a country with sufficient sunlight for vitamin D production in skin, the incidence of TB in Indonesia remains high. Objective To assess for possible associations between the incidence of tuberculosis and serum vitamin D level, as well as VDR FokI polymorphisms in children. Methods A case-control study was conducted at the Department of Child Health, Dr. Mohammad Hoesin Hospital, Palembang from November 2011 to April 2012. Subjects were children with TB (the case) and children without TB who had been exposed to TB in the home (the control). Serum vitamin D [1,25(OH)2D3 or calcitriol] level was measured by immunodiagnostic system (IDS) 1,25-dihydroxy vitamin D enzyme immunoassay (EIA) kit. The VDR FokI polymorphisms were identified by polymerase chain reaction (PCR) and restriction-fragment length polymorphism (RFLP) analysis. Results Sixty subjects was divided equally into the case and control groups. The mean serum calcitriol level in the case group was significantly lower than that of the control group [105.5 (SD 66.9) pmol/L vs. 162.9 (SD 52.9) pmol/L, respectively; (P=0.001)]. We found 9 subjects with calcitriol deficiency, 8 in the TB group and 1 in the healthy contact group (OR 10.5; 95%CI 1.2 to 90.7) The VDR FokI polymorphism was seen in 28 subjects in the case group and 22 in the control group (OR 5.0; 95%CI 0.9 to 26.4). Conclusion Vitamin D (calcitriol) deficiency and lower serum levels are associated with higher risk of TB in children. The VDR gene FokI polymorphism also contributes to susceptibility for TB.
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Sapna Devi, A. "Metabolic Syndrome and VDR Gene Polymorphism." International Journal of Science and Research (IJSR) 13, no. 2 (2024): 610–12. http://dx.doi.org/10.21275/sr24205120015.
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Protas, Valeria, Gayane Pogossyan, Konstantin Li, and Michael Danilenko. "Vitamin D receptor gene polymorphisms characteristic." Bulletin of the Karaganda University. “Biology, medicine, geography Series” 104, no. 4 (2021): 60–70. http://dx.doi.org/10.31489/2021bmg4/60-70.
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The article presents the characteristics of the main vitamin D receptor (VDR) gene polymorphisms: rs2228570 (FokI), rs731236 (TaqI), rs1544410 (BsmI) and rs7975232 (ApaI). The role of the vitamin D hormonally active form (1,25(OH)2D3, calcitriol) as a transcription factor regulating gene expression in target cells by binding to the vitamin D receptor protein is described. The immunomodulatory and mediating effect of VDRs on the biological functions of the human body has been noted. A description of the vitamin D receptor gene and its polymorphic character have been provided. The analysis of the four most significant single nucleotide polymorphisms (SNPs) of the VDR gene was carried out. A detailed description of each polymorphism, its genomic position, the nature of interaction with other polymorphisms of the vitamin D receptor gene, as well as its effect on the structure and activity of the VDR protein were given. The analysis of the indicated single-nucleotide polymorphisms allelic composition was conducted according to the literature and specialized SNP databases. The frequency of each polymorphism individual alleles occurrence, as well as their influence on the predisposition and course of various diseases, were studied. The need for further studies of VDR gene polymorphisms, their allelic composition and prevalence was designated. It is also necessary to study the possibilities of their potential use as genetic markers for such relevant but little-studied pathologies as COVID-19.
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Lubis, Ramona Dumasari, Irma D. Roesyanto-Mahadi, Yahwardiah Siregar, and Putri Chairani Eyanoer. "Vitamin D Receptor Gene Polymorphisms FokI rs2228570, ApaI rs797523, and TaqI rs731236 in Multibacillary Leprosy Patients." Open Access Macedonian Journal of Medical Sciences 9, F (2021): 112–15. http://dx.doi.org/10.3889/oamjms.2021.5457.
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AIM:: Knowing distribution frequency of genotype and allele Vitamin D receptor (VDR) gene polymorphism FokI rs2228570, ApaI rs797523, and TaqI rs731236 in leprosy patients. METHODS: This is an observational research that was done in Leprosy Division, Department of Dermatology and Venereology, Haji Adam Malik General Hospital, Dr. Pirngadi General Hospital in Medan, and other primary healthcare facilities in North Sumatera. The research subjects underwent an interview process, physical examination and blood collection to detect VDR gene polymorphism FokI rs2228570, ApaI rs797523, and TaqI rs731236. The data were then tabulated and analyzed, also calculated using Hardy-Weinberg equilibrium. RESULTS: This study involved 52 leprosy patients, with most of them aged between 35 and 44 years (38.5%), male (61.5%) more than female (38.5%). The research subjects have VDR gene polymorphisms FokI rs2228570 with genotype FF (42.3%) with F allele (59.6%), ApaI rs797523 genotype AA (46.1%) with A allele (65.4%) and TaqI rs731236 genotype TT (86.5%) with T allele (93.3%). CONCLUSION: Most of the leprosy patients have genotype FF with F allele, genotype AA with A allele and TT with T allele. Further research can be done to assess the relationship between the VDR gene polymorphism and leprosy risk.
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Tentolouris, Nikolaos, Charoula Achilla, Ioanna A. Anastasiou, et al. "The Association of Vitamin D Receptor Polymorphisms with COVID-19 Severity." Nutrients 16, no. 5 (2024): 727. http://dx.doi.org/10.3390/nu16050727.
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Background: Association studies of vitamin D receptor (VDR) polymorphisms with COVID-19 severity have produced inconsistent results in different populations. Herein we examined VDR gene polymorphisms in a Caucasian Greek cohort of COVID-19 patients. Methods: This was a case-control study in a tertiary university hospital in Greece including 137 COVID-19 patients with varying disease severities and 72 healthy individuals. In total 209 individuals were genotyped for the FokI (rs10735810), ApaI (rs7975232), TaqI (rs731236) and BsmI (rs1544410) single-nucleotide polymorphisms (SNP) of the VDR gene by polymerase chain reaction and restriction fragment length polymorphism analysis (PCR-RFLPs). Statistical analyses were performed to determine the association between genotype and disease severity, adjusting for various confounding factors. Results: Genotype distribution of the studied VDR SNPs in the control group was in Hardy–Weinberg equilibrium. The TaqI variant was differentially distributed between controls and COVID-19 patients according to the additive model (p = 0.009), and the CC genotype was significantly associated with an increased risk for severe COVID-19 according to the recessive model [OR: 2.52, 95%CI:1.2–5.29, p = 0.01]. Multivariate analysis demonstrated a robust association of COVID-19 severity and TaqI polymorphism in the recessive model even after adjusting for multiple confounders, including age, sex and CRP levels [Adj.OR:3.23, 95%CI:1.17–8.86, p = 0.023]. The distribution of FokI, ApaI and BsmI genotypes was similar between COVID-19 patients and controls. Conclusions: The CC genotype of TaqI polymorphism is significantly associated with an increased risk for severe COVID-19 independently of age, sex or degree of inflammation.
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Beletskaya, Inessa S., Sergey Yu Astakhov, Tatiana L. Karonova, et al. "Pseudoexfoliative glaucoma and molecular genetic characteristics of vitamin D metabolism." Ophthalmology journal 11, no. 2 (2018): 19–28. http://dx.doi.org/10.17816/ov11219-28.
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Purpose. To study the possible association of 25-hydroxyvitamin D level, and vitamin D receptor (VDR) gene polymorphisms (BsmI, ApaI, TaqI, FokI) with pseudoexfoliative glaucoma (PEG) clinical manifestations.
 Methods. We examined 160 subjects (72 males (45%), and 88 females (55%)) aged from 55 to 75 years, residents of St. Petersburg and Leningrad region. 122 patients with PEG were enrolled in the main study group, the control group comprised 38 subjects without PEG, primary open angle glaucoma (POUG) and pseudoexfoliation syndrome (PES). 25(OH)D serum levels were assessed by chemiluminescent immunoassay (CLIA) method. Detection of VDR gene allele polymorphisms (ApaI, BsmI, FokI, and TaqI) was carried out using polymerase chain reaction – restriction fragment length polymorphism (PCR-RFLP) technique.
 Results. Patients with PEG had lower 25(OH)D serum levels compared to patients in the control group (39.3 ± 1.2 and 52.7 ± 2.1 nMol/l, respectively, p < 0.01). The prevalence of vitamin D deficiency was found to be higher among PEG patients than among healthy subjects (86.4% and 59.5%, respectively, p < 0.01). The prevalence of b allele (p < 0.001) and bb genotype (p < 0.001) (BsmI polymorphism), as well as of f allele and ff genotype (p < 0.05) (FokI polymorphism) in PEG patients were higher compared to healthy subjects. We found that the Fallele carriers (FokI polymorphism) had greater corneal thickness than the ff genotype carriers (547.3 ± 4.1 μm and 502.1 ± 25.8 μm, respectively, p < 0.01). It was revealed, that bb genotype, Bb genotype (BsmI polymorphism), and ff genotype (FokI polymorphism) were associated with the increased risk of PEG (OR = 8.2, CI 95%: 3.4-19.9; OR = 3.9, CI 95%: 1.7-9.0; OR = 2.3, CI 95%: 1.2-4.5, respectively).
 Conclusions. Results of this study for the first time ever showed the association between BsmI and FokI VDR gene polymorphisms and pseudoexfoliative glaucoma.
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Zununi Vahed, Sepideh, Elham Ahmadian, Peyman Foroughi, et al. "Vitamin D Receptor and Vitamin D Binding Protein Gene Polymorphisms Are Associated with Renal Allograft Outcome." Nutrients 13, no. 4 (2021): 1101. http://dx.doi.org/10.3390/nu13041101.
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Vitamin D deficiency has adverse effects on renal allograft outcomes, and polymorphisms of genes encoding vitamin D-binding protein (VDBP) and vitamin D receptor (VDR) are defined to play a role in these conditions. The goal of the current investigation was to evaluate the connection between those polymorphisms with acute rejection, viral infection history, and recipients’ vitamin D status. In this study, 115 kidney transplant recipients and 100 healthy individuals were included. VDR polymorphisms including FokI (rs2228570), Apal (rs7975232), BsmI (rs1544410), as well as VDBP (rs7040) polymorphisms were studied using high resolution melting (PCR-HRM) analysis among the studied groups. The frequency of G allele in Apal rs7975232 polymorphism in the kidney transplant recipients was 0.63 times lower than healthy individuals (p = 0.026). Further, the G allele frequency in VDBP rs7040 polymorphism was significantly lower in patients with allograft rejection (p = 0.002). Considering the incidence of viral infection, significant differences were identified between the frequencies of VDR FokI (OR = 2.035; 95% CI 1.06–2.89, p = 0.030) and VDBP rs7040 (OR = 0.40; 95% CI 0.24–0.67, p < 0.001) T alleles in the studied groups. Moreover, the VDBP rs7040 GG genotype distribution was low in the recipients with a history of viral infection (p = 0.004). VDR (FokI) and VDBP (rs7040) alleles and their genotype distribution are significantly associated with allograft outcomes including allograft rejection and viral infection in the studied population.
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Kim, Yu-Rim, Sang-Hyun Lee, Su-Jin Kim, et al. "Comparison of physique and physical fitness factors by Vitamin D Receptor FokⅠ polymorphism in athletic gifted children." Korean Journal of Sport Science 31, no. 3 (2020): 410–22. http://dx.doi.org/10.24985/kjss.2020.31.3.410.
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Purpose The purpose of this study is to examine the differences in physique and physical fitness factors affecting exercise performance according to the vitamin D receptor (VDR) FokI gene polymorphism in athletic gifted children. Methods FokI VDR polymorphisms were genotyped in 82 boys (9.1±0.9 years) and 55 girls (9.3±0.9 years). Basic physical fitness (basketball throw, half-squat jump, standing long jump, 15m pacer, 50m run, handgrip strength, side-step, trunk forward flexion, sit-up) and physique were measured and analyzed using one-way ANOVA with bonferroni’s correction. Results No association was found between the VDR FokI genotypes and all the physical fitness variables as well as physique variables in boys and girl. However, Hardy-Weinberg equilibrium results for VDR polymorphism distribution showed significant differences (χ2= 6.516, df=2, p=.038). Conclusion Although there was no significant difference in the fitness variables according to the VDR Fok1 genotype, it was difficult to exclude the potential for predicting fitness in that the H-W equilibrium test showed a significant difference. Therefore, in order to confirm the true potential of the VDR Fok1 gene to predict physical fitness, it is considered that additional studies on general children should be conducted.
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Correa, Pamela, Jonas Rastad, Peter Schwarz, et al. "The Vitamin D Receptor (VDR) Start Codon Polymorphism in Primary Hyperparathyroidism and Parathyroid VDR Messenger Ribonucleic Acid Levels1." Journal of Clinical Endocrinology & Metabolism 84, no. 5 (1999): 1690–94. http://dx.doi.org/10.1210/jcem.84.5.5707.
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Vitamin D regulates parathyroid cell proliferation and secretion of PTH. Increased prevalence of the polymorphic vitamin D receptor (VDR) alleles b, a, and T has been reported in sporadic primary hyperparathyroidism (PHPT), suggesting that these genetic variants may predispose to the disease. Recently, another polymorphism in the VDR gene was related to bone mineral density, and this VDR-FokI polymorphism causes different lengths of the VDR, implying possible functional consequences. The VDR-FokI polymorphism was studied in 182 postmenopausal women with sporadic PHPT and in matched controls. No significant differences in distribution of the VDR-FokI genotypes could be detected between the groups, although there was a tendency toward overrepresentation of the F allele in the PHPT patients (P = 0.05). There were no significant associations with age, serum calcium, serum PTH, bone mineral density, or parathyroid tumor weight. The VDR genotypes were unrelated to VDR and PTH messenger ribonucleic acid levels in the parathyroid adenomas of 42 PHPT patients. In 23 PHPT patients, the Ca2+-PTH set-points were determined in vivo and were unrelated to the VDR alleles. We suggest that the VDR-FokI polymorphism has at most a minor pathogenic importance in the development of PHPT.
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Taneja, Nancy, Rajesh Khadagawat, and Shalini Mani. "BSMI AND TAQI POLYMORPHISMS IN VITAMIN D RECEPTOR GENE OF TYPE 2 DIABETES MELLITUS PATIENTS FROM NORTH INDIA." Asian Journal of Pharmaceutical and Clinical Research 9, no. 9 (2016): 186. http://dx.doi.org/10.22159/ajpcr.2016.v9s3.14875.
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ABSTRACTObjective: Polymorphisms in vitamin D receptor (VDR) genes are known to be linked with different metabolic diseases including Type 2 diabetesmellitus (T2DM) also. However, the association of these polymorphisms is not much explored for the Indian population. To determine the prevalenceof BsmI and TaqI polymorphism in VDR gene of T2DM patients from North India.Methods: Blood samples were obtained from 100 well-characterized T2DM patients and 100 healthy controls. Genomic DNA was isolated from bloodsamples and using polymerase chain reaction/restriction fragment length polymorphism based method, the presence of these polymorphisms wasinvestigated in these samples. The data were statistically analyzed using SPSS 21.0 software.Results: For TaqI polymorphism, both the wild type (TT) and heterozygous (TC) genotype showed a significant difference between patients andcontrols (p=0.023 and p<0.001, respectively). Whereas, the frequency of CC genotype was not significantly different among these groups (p=0.506).For BsmI polymorphism also, the frequency of wild type (GG) and heterozygous (GA) genotype was significantly different in patients and controls(p=0.027 and p=0.001), respectively. However, the frequency of AA genotype was not of statistical significance in patients (p=0.071).Conclusions: The mutant alleles of TaqI and BsmI polymorphisms are known to be associated with different metabolic diseases, including diabetestoo. In our study also, there is a significant difference between the frequency of wild type and heterozygous genotype for these polymorphisms. Thissuggests that BsmI and TaqI polymorphisms may be associated with T2DM patients.Keywords: Type 2 diabetes mellitus, Polymorphism, Vitamin D receptor, Patient, Control, Restriction fragment length polymorphism.
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Fronczek, Martyna, Joanna Katarzyna Strzelczyk, Tadeusz Osadnik, Krzysztof Biernacki, and Zofia Ostrowska. "VDR Gene Polymorphisms in Healthy Individuals with Family History of Premature Coronary Artery Disease." Disease Markers 2021 (January 29, 2021): 1–9. http://dx.doi.org/10.1155/2021/8832478.
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Aim. The gene encoding the vitamin D receptor (VDR) is considered in many studies to be a good candidate responsible for susceptibility to several diseases such as coronary artery disease (CAD). Epidemiological data show that cardiovascular disease is one of the major health problems in Polish society. Basic studies show that genetic factors play a significant role in the pathogenesis of CAD. We conducted this clinical study to determine if the VDR gene polymorphisms TaqI (rs731236), ApaI (rs7975232), and FokI (rs2228570) could predispose healthy individuals to an increased risk of premature CAD (P-CAD) incidents. Methods. We genotyped 845 subjects in a cohort consisting of 386 healthy volunteers with a documented P-CAD incident in their first-degree relatives and 459 healthy volunteers without family history (FH) of P-CAD. TaqI, ApaI, and FokI polymorphisms in VDR were genotyped using TaqMan assays and the endpoint genotyping method (qPCR). Statistical analyses were performed using the Power Analysis Software STATISTICA v.13.3. Results. Although no statistical significance was found for TaqI and ApaI genotype frequencies, the AA genotype of FokI polymorphism was significantly more frequent in the study group compared to the control group (24.61% vs. 16.99%). The results of logistic regression analysis suggested a significant association between FokI polymorphism and FH of P-CAD in heathy people under the recessive model (OR: 1.26 (1.07-1.49, p = 0.007 )); however, the frequency of VDR haplotypes did not differ significantly between the control and study populations. Conclusions. FokI polymorphism is may be associated with FH of P-CAD. FokI polymorphism may predispose to the development of P-CAD among healthy people over the next years.