Gotowe bibliografie tematyczne / VDR polymorphism

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Gotowa bibliografia na temat „VDR polymorphism”

Autor: Grafiati

Data publikacji: 2 czerwca 2025

Data aktualizacji: 22 czerwca 2025

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Artykuły w czasopismach na temat "VDR polymorphism"

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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Rozprawy doktorskie na temat "VDR polymorphism"

Egan, Jan Bailey. "Evaluating the Role of VDR Polymorphisms and Beta-catenin Signaling in Colorectal Neoplasia." Diss., The University of Arizona, 2009. http://hdl.handle.net/10150/195709.

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Colorectal cancer is estimated to cause approximately 50,000 deaths each year in the United States. Epidemiological studies have demonstrated an inverse association between sunlight exposure, which stimulates the formation of vitamin D in the skin, and colorectal carcinoma. Laboratory studies report that metabolites of vitamin D, acting through the vitamin D receptor (VDR), regulate cellular proliferation, differentiation and apoptosis. In addition, VDR contains a polymorphic variant, FokI, which results in two different isoforms of VDR. We have demonstrated a differential suppression of β-catenin transcriptional activity by these isoforms in the presence of 1,25(OH)₂D₃ (1,25D). Epidemiological evaluation of metachronous colorectal adenoma formation indicates that VDR includes several single nucleotide polymorphisms (SNPs) which influence the odds of developing colorectal adenoma. In addition, we have found full length Adenomatous Polyposis Coli (APC), a frequently mutated tumor suppressor gene in colorectal cancer, augments both the interaction of VDR and β-catenin as well as the suppression of β-catenin transcriptional activity in the presence of 1,25D. We have also demonstrated in epidemiological studies that the presence of a T-A haplotype in APC codons 486 and 1822, respectively, reduces the odds of any metachronous adenoma by 27% [odds ratio (OR), 0.73; 95% confidence interval (95% CI), 0.59 – 0.91]. Taken together, these data support not only a protective role for vitamin D acting through the VDR, but also for an important role of heritable polymorphic variation in VDR and APC in carcinogenesis.

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Обухова, Ольга Анатоліївна, Ольга Анатольевна Обухова, and Olha Anatoliivna Obukhova. "Association TaqI polymorphism of VDR gene in smokers and non-smokers, among patients with ischemic stroke." Thesis, Sumy State University, 2015. http://essuir.sumdu.edu.ua/handle/123456789/41244.

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Obinna, N. K., and T. Mutanikwa. "Impact of VDR gene polymorphism on the development of ischemic stroke in smokers and non-smokers." Thesis, Sumy State University, 2017. http://essuir.sumdu.edu.ua/handle/123456789/60775.

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Today, we have ample evidence that hormonal system of vitamin D, the main component of which is calcitriol (1α,25(OH)2D3) and receptor of vitamin D (VDR) plays an important role not only in the regulation of functional and metabolic processes in the body, but also in the development of many diseases, including cardiovascular disease. The risk factors for ischemic stroke can be divided into unregulated (age, gender, race) and susceptible (malnutrition, lack of physical activity, smoking, alcohol abuse). Smoking doubles the risk of stroke. Once you stop smoking, the risk of a stroke in you will start to decrease immediately, after five years, the risk of developing a stroke will be the same as that of non-smokers.

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Обухова, Ольга Анатоліївна, Ольга Анатольевна Обухова, Olha Anatoliivna Obukhova, L. A. Kolo, and M. A. Chibueze. "Association ApaI polymorphism of VDR gene with the development of ischemic stroke in individuals of different sex." Thesis, Sumy State University, 2017. http://essuir.sumdu.edu.ua/handle/123456789/60782.

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In the overwhelming majority of cases, cerebral stroke is a multifactor disease, in the development of which, along with other factors, an undoubted role is played by changes in the system of hemostasis. In the last decade considerable attention has been paid to the study of the influence of genetic predisposition on the hemostatic system. In general, the risk of stroke in men is 30% higher than that of women. However, this is typical only for the age group of the population from 45 to 64 years. At the age of more than 65 years, the risk of stroke in men and women is practically the same.

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Обухова, Ольга Анатоліївна, Ольга Анатольевна Обухова, Olha Anatoliivna Obukhova та ін. "Оцінка зв'язку BsmI поліморфізму гена VDR з антропометричними показниками у хворих з ішемічним інсультом". Thesis, Сумський державний університет, 2016. http://essuir.sumdu.edu.ua/handle/123456789/45046.

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Актуальність. Інсульт є однією з основних причин смерті в розвинених країнах і тим більше в Україні. Поширеність інсульту і тягар інвалідності, як очікується, зростуть в майбутньому, оскільки відбувається процес старіння населення. Крім віку до чинників ризику розвитку інсульту відносяться артеріальна гіпертензія, паління, цукровий діабет, гіпертрофія лівого шлуночка і фібриляція передсердь. Ожиріння, як правило, передує розвитку артеріальної гіпертензії, цукрового діабету та їх ускладнень, що грає важливу непряму роль в епідеміології ішемічного інсульту. Метою нашої роботи було провести аналіз зв’язку BsmI поліморфізму гена рецептора вітаміну D (VDR) у двох груп, утворених за показником ІМТ (<25 кг/м2 і ≥25 кг/м2) хворих на ішемічний атеротромботичний інсульт (ІАІ).

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Bueno, Larissa Souza Mario. "Vitamina D, polimorfismos do gene VDR e neurofibromatose 1." reponame:Biblioteca Digital de Teses e Dissertações da UFRGS, 2012. http://hdl.handle.net/10183/52955.

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Introdução: A Neurofibromatose tipo 1 (NF1) é uma doença genética autossômica dominante causada por mutação no gene NF1 (17q11.2; proteína neurofibromina). A incidência é de aproximadamente 1:3500 recém-nascidos e o diagnóstico clínico é possível na maioria dos casos. Alguns estudos sugeriram que pacientes com NF1 são mais suscetíveis a apresentar deficiência de vitamina D quando comparados à população geral. Objetivo: Determinar os níveis de 25(OH)D em indivíduos com NF1 e em controles saudáveis. Nos pacientes com NF1 nos também avaliamos o fenótipo clínico e analisamos polimorfismos comuns do gene VDR (BsmI e FokI) para avaliar se estavam correlacionados com os níveis de 25(OH)D. Métodos: Estudo de caso-controle que incluiu 45 pacientes com NF1 do Sul do Brasil e 45 controles saudáveis pareados por idade, sexo e tipo de pele de acordo com a classificação de Fitzpatrick. Resultados e Conclusões: Setenta e sete vírgula oito por cento dos 90 sujeitos de pesquisa apresentaram níveis de 25(OH)D abaixo de 30ng/ml. Deficiência de 25(OH)D (<20ng/mL) foi observada em 28 (31,1%) e insuficiência (de 20 a 30ng/mL) em 42 (46,6%). Deficiência ou insuficiência de 25(OH)D não foi mais frequente em pacientes com NF1 do que em controles (p=0,074). Nos não observamos qualquer associação entre os polimorfismos do gene VDR e os níveis de vitamina D sugerindo que o fenótipo da insuficiência ou deficiência bioquímica de 25(OH)D nos pacientes estudados não está associado com essas variantes genéticas. Introduction: Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder caused by mutations in the NF1 gene (17q11.2, neurofibromin). The estimated incidence is approximately 1:3500 newborns and clinical diagnosis is possible in the majority cases. A few studies suggest that patients with NF1 are more likely to have vitamin D deficiency when compared to the general population. Objectives: The goal of the study was to determine the levels of 25-OH-vitamin D [25(OH)D] in individuals with NF1 and disease-unaffected controls. In NF1 patients we also assessed clinical phenotype and analyzed common VDR gene polymorphisms (BsmI and FokI) to verify whether they were associated with lower vitamin D levels. Methods: Case-control study that included 45 NF1 patients from Southern Brazil and 45 healthy controls matched by sex, skin type and age to the cases. Results and conclusions: Overall, 70 (77.8%) of the individuals studied had levels of 25(OH)D below 30ng/ml: vitamin D deficiency was observed in 28 (31.1%) and vitamin D insufficiency in 42 (46.6%) subjects. 25(OH)D deficiency or insufficiency were not more frequent in NF1 patients than in controls (p=0,074). We did not observe an association of VDR gene polymorphisms and vitamin D levels suggesting that the insufficient or deficient biochemical phenotypes in the patients studied here are not associated with these genetic variants.

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Issa, Chahira Taha Mah D. Ibrahim. "Relação entre perfil cardiometabólico, status de vitamina d e polimorfismo bsmi do gene vdr em idosos." Universidade Federal da Paraíba, 2014. http://tede.biblioteca.ufpb.br:8080/handle/tede/4307.

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Made available in DSpace on 2015-04-17T15:03:04Z (GMT). No. of bitstreams: 1 arquivototal.pdf: 2451134 bytes, checksum: cd1a58c82bfe6936ed40ff974a4a3740 (MD5) Previous issue date: 2014-03-13 Coordenação de Aperfeiçoamento de Pessoal de Nível Superior - CAPES The high prevalence of hypovitaminosis D in the elderly population is identified as a potential risk factor for the development of cardiovascular diseases. The vitamin D receptor (VDR) is present in various body cells and polymorphisms of the gene encoding it can affect the cell responses to vitamin D. Therefore, this study aimed to evaluate the relationship between cardiometabolic profile, vitamin D status and BsmI polymorphism of the VDR gene in non-institutionalized elderly subjects. An observational cross-sectional study was conducted with a random and representative sample of 142 elderly subjects selected by conglomerate and recruited from a municipal assistance program. Clinical and nutritional, biochemical and inflammatory profiles, oxidative stress and genotyping for BsmI polymorphism were evaluated. For statistical analysis of data, significance level of p < 0.05 was adopted. Participants had mean age of 69.9 (7.0) years, BMI of 28.3 (4.4) kg / m² and 80.3 % were women. The prevalence of levels of 25 (OH) D < 30 ng / ml was 40.8 % (n = 58), three of them were deficient (25(OH) D < 20 ng / ml) and 55 were insufficient (25(OH) D between 21-29 ng/mL). The influencing factors associated with hypovitaminosis D were gender and fish consumption. The INSUF/DEF group showed fasting blood glucose and MDA values significantly higher when compared to the SUF group. The BsmI polymorphism analysis results showed allelic frequency for the SUF group of B = 0.49 and b = 0.51 and for INSUF/DEF group of B = 0.38 and b = 0.62. The frequency of homozygous bb was significantly associated with lower serum total cholesterol and LDL cholesterol concentrations compared to Bb both in the general population as in the SUF group, whose association was not observed in the INSUF/DEF group. Among individuals with bb, INSUF/DEF group showed higher levels of triglycerides and VLDL cholesterol. It was concluded that blood glucose levels and oxidative stress are increased in elderly subjects with hypovitaminosis D. The presence of genotype bb with adequate vitamin D levels resulted in lower total and LDL cholesterol levels, which benefit is lost when hypovitaminosis D is present. Therefore, low levels of vitamin D can be considered a risk factor for the development of cardiovascular diseases. A alta prevalência de hipovitaminose D em idosos é identificada como um fator de risco potencial para o desenvolvimento de doenças cardiovasculares. O receptor de vitamina D (VDR) está presente em diversas células do corpo e polimorfismos no gene que o codifica podem influenciar nas respostas celulares à vit. D. Portanto esse estudo teve como objetivo avaliar a relação entre perfil cardiometabólico, status de vitamina D e polimorfismo BSMI do gene VDR em idosos não institucionalizados. Foi realizado um estudo transversal observacional com amostra aleatória e representativa de 142 idosos, selecionada por conglomerado e recrutada em um programa assistencial municipal. Foram avaliados: perfis clínico-nutricional, bioquímico e inflamatório, estresse oxidativo e genotipagem para o polimorfismo BsmI. Para análise estatística dos dados, foi considerado nível de significância p<0,05. Os participantes tinham idade média de 69,9 (7,0) anos, de IMC 28,3(4,4) Kg/m² e 80,3% eram mulheres. A prevalência de níveis de 25(OH)D < 30 ng/mL foi de 40,8% (n= 58), estando três deles deficientes (25(OH)D <20 ng/mL) e 55 com insuficiência (25(OH)D entre 21-29 ng/mL). A média de 25(OH)D foi 36,5(5,8) ng/dL entre os SUF e 25,7 ± 3,3ng/dL nos INSUF/DEF. Indivíduos brancos tiveram percentual significativamente maior de inadequação de níveis de vit. D em relação aos pardos e negros (p = 0,024). Entre o consumo dos principais alimentos fonte de vit. D foi encontrada relação positiva entre consumo de peixe e níveis de vit. D (p = 0,000). O grupo INSUF/DEF apresentou valores de glicemia de jejum significativamente mais elevados (p = 0,022) comparado ao SUF. O estresse oxidativo foi significativamente mais elevado no grupo INSUF/DEF em relação ao grupo SUF (p = 0,003). Os resultados da análise do polimorfismo BsmI do gene do VDR mostraram frequência alélica para o grupo SUF: B= 0,49 e b=0,51 e INSUF/DEF: B=0,38 e b=0,62 com p=0,051. A frequência de homozigoto bb foi significativamente associada com menores concentrações séricas de colesterol total e colesterol LDL, em relação ao BB e Bb, tanto na população em geral como no grupo SUF, associação não observada no grupo INSUF/DEF. Conclui-se que glicemia e estresse oxidativo estão aumentados em idosos com hipovitaminose D. A presença do genótipo bb, em condições adequadas de vit D sérica, resultou em níveis menores de colesterol total e LDL, este benefício se perde quando há insuficiência/deficiência de D. Portanto, baixo nível sérico de 25(OH)D pode ser considerado fator de risco cardiovascular.

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Обухова, Ольга Анатоліївна, Ольга Анатольевна Обухова, Olha Anatoliivna Obukhova та ін. "Зв'язок Aраl поліморфізму гена VDR з ішемічним інсультом з урахуванням дисліпопротеїнемії атерогенного характеру". Thesis, Івано-Франківський національний медичний університет, 2019. https://essuir.sumdu.edu.ua/handle/123456789/80864.

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У розвитку атеросклерозу вагоме значення належить запальним процесам у судинній стінці. Враховуючи імуномоделюючі властивості вітаміну D, його вплив на регуляцію атеросклеротичного процесу може мати важливе значення у розвитку серцево-судинних захворювань, включаючи клапанні кальцифікації, гіпертонію, ішемічний атеротромботичний інсульт.

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Ferrarezi, Daniela Andraus de Figueiredo. "Variações alélicas no gene do receptor da vitamina D (VDR) e risco de doença arterial coronariana em pacientes diabéticos tipo 2." Universidade de São Paulo, 2011. http://www.teses.usp.br/teses/disponiveis/5/5135/tde-05052011-142938/.

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A doença cardiovascular (DCV) é a principal causa de mortalidade e morbidade em pacientes portadores de diabetes mellitus tipo 2 (DM 2), estando associada com mais de 80% das mortes nesses pacientes. Portadores de DM 2 têm um risco três vezes maior em relação à indivíduos não diabéticos de desenvolver aterosclerose e suas complicações clínicas como infarto agudo do miocárdio (IAM), acidente vascular cerebral (AVC) e doença vascular periférica. O sistema endócrino da vitamina D regula a diferenciação e a proliferação de vários tipos celulares, além de possuir propriedades antiinflamatórias e antiangiogênicas. Assim, a vitamina D poderia ter um papel protetor contra as doenças degenerativas crônicas como a DCV. Estudos epidemiológicos sugerem que a deficiência de vitamina D está associada com doença arterial coronariana (DAC). As ações da 1,25(OH)2D3 são mediadas pela sua ligação ao seu receptor nuclear (VDR). O objetivo do presente estudo foi investigar as associações de polimorfismos de um único nucleotídeo (SNPs) no gene VDR com DAC em duas coortes de pacientes portadores de DM 2. Um total de 3.137 pacientes provenientes do estudo prospectivo DIABHYCAR (14,8% de incidência de DAC no seguimento) foi estudado. Uma outra coorte (NECKER - COCHIN) independente composta de 713 indivíduos portadores de DM 2 (32,3% dos quais tinham DAC) também foi avaliada. Três SNPs no gene VDR foram genotipados: rs1544410 (BsmI), rs7975232 (ApaI) e rs731236 (TaqI). Uma associação do alelo A de BsmI com casos incidentes de DAC (Hazard Ratio = 1,16; IC 95% = 1,05-1,29; p = 0,002) foi observada, assim como associações do alelo A de BsmI (p = 0,01) e do alelo C de TaqI (p = 0,04) com casos de DAC no início do estudo. O haplótipo AAC (BsmI / ApaI / TaqI) foi significantemente associado com aumento da prevalência de DAC no final do estudo, em comparação com o haplótipo GCT (Odds Ratio = 1,12; IC 95% = 1,02-1,28; p = 0,04). Associações do alelo A de ApaI (p = 0,009) e do alelo C de TaqI (p = 0,05) com DAC foram observadas no estudo transversal da coorte Necker - Cochin. Os resultados obtidos com os haplótipos também foram replicados nessa coorte (Odds Ratio = 1,33; IC 95% = 1,03-1,73; p = 0,03). Em conclusão, o haplótipo composto pelo alelo raro de BsmI, pelo alelo frequente de ApaI e pelo alelo raro de TaqI (AAC) foi associado a um maior risco de DAC em pacientes portadores de DM 2. Este efeito foi independente dos efeitos de outros fatores de risco cardiovasculares Cardiovascular (CVD) disease is the leading cause of mortality and morbidity in patients with type 2 diabetes being associated with up to 80% of the deaths in these patients. Diabetic patients have a 3-fold higher risk than non diabetic individuals for developing atherosclerosis and its clinical complications such as myocardial infarction, stroke, and peripheral vascular disease. The vitamin D endocrine system regulates the differentiation and replication of several cell types and has antiangiogenic and antiinflammatory properties. Thus, it could have a protective role against chronic degenerative disorders such as CVD. Epidemiological studies suggested that vitamin D deficiency is associated with coronary heart disease. Actions of vitamin D are mediated by the binding of 1,25-(OH)2D3 to a specific cytosolic/nuclear vitamin D receptor (VDR). The present study investigated associations of VDR gene variants with coronary artery disease (CAD) in two cohorts of type 2 diabetic subjects. A total of 3,137 subjects participating in the 6-year prospective DIABHYCAR study (14.8% of CAD incidence at follow-up) were evaluated. An independent, hospital-based cohort (NECKER-COCHIN) of 713 diabetic subjects, 32.3% of whom had CAD, was also studied. Three single nucleotide polymorphisms (SNPs) in the VDR gene were genotyped: rs1544410 (BsmI), rs7975232 (ApaI) and rs731236 (TaqI). In the DIABHYCAR cohort, an association of the A-allele of BsmI with incident cases of CAD was found (Hazard Risk = 1.16; 95% C.I = 1.05-1.29; p = 0.002). Associations were also observed for the A- allele of BsmI (p=0.01) and C-allele of TaqI (p = 0.04) polymorphic variants with baseline cases of CAD. The AAC haplotype (BsmI/ApaI/TaqI) was significantly associated with increased CAD prevalence at the end of the study as compared with the GCT haplotype (Odds Ratio = 1.12; 95% C.I. = 1.02-1.28; p = 0.04). Associations of ApaI (p = 0.009) and TaqI (p = 0.05) alleles with CAD were observed in a cross-sectional study of the NECKER-COCHIN cohort. The haplotype results were also replicated (Odds ratio = 1.33; 95% C.I. = 1.03 - 1.73; p = 0.03). In conclusion, the haplotype composed by the minor allele of BsmI, the major allele of ApaI and the minor allele of TaqI (AAC) was associated with increased risk of CAD in type 2 diabetic patients. This effect was independent from effects of other known cardiovascular risk factors

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Обухова, Ольга Анатоліївна, Ольга Анатольевна Обухова, Olha Anatoliivna Obukhova, and K. M. Sheikh. "Variants polymorphisms of genes vitamin D receptor (VDR)." Thesis, Видавництво СумДУ, 2012. http://essuir.sumdu.edu.ua/handle/123456789/27511.

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Książki na temat "VDR polymorphism"

Plock, Kristin Carolina. Die Hämochromatosemutation (HFE), der Vitamin-D-Rezeptor-Polymorphismus (VDR) und der Polymorphismus der endothelialen NO-Synthase als molekulargenetische Risikomarker des Typ-2-Diabetes mellitus. 2001.

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Części książek na temat "VDR polymorphism"

Khashman, Adnan, Nedime Serakinci, and Meral Kizilkanat. "Metabolic Syndrome Risk Evaluation Based on VDR Polymorphisms and Neural Networks." In Advances in Intelligent Systems and Computing. Springer International Publishing, 2019. http://dx.doi.org/10.1007/978-3-030-35249-3_126.

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Borzyszkowski, Andrzej, Ryszard Kubiak, and Stefan Sokołowski. "A set-theoretic model for a typed polymorphic lambda calculus a contribution to MetaSoft." In VDM '88 VDM — The Way Ahead. Springer Berlin Heidelberg, 1988. http://dx.doi.org/10.1007/3-540-50214-9_21.

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Khabaz-Saberi, H., S. J. Barker, R. D. Graham, and A. J. Rathjen. "The Application of Amplified Fragment Length Polymorphism (AFLP) for Breeding MN Efficiency in Durum Wheat (Triticum Turgidum L. Var. Durum)." In Plant Nutrition — Molecular Biology and Genetics. Springer Netherlands, 1999. http://dx.doi.org/10.1007/978-94-017-2685-6_48.

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Chen Wen-Jun, Qiu Yong, Cao Xing-Bing, Qiu Xu-Sheng, Chen Zhi-Jun, and Chen Hai-Ou. "Vitamin D receptor gene polymorphisms: no association with low bone mineral density in adolescent idiopathic scoliosis girls." In Studies in Health Technology and Informatics. IOS Press, 2008. https://doi.org/10.3233/978-1-58603-888-5-323.

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Genetic factor has been proven to be one of the key factors in the etiology of adolescent idiopathic scoliosis (AIS), and osteopenia has been well documented in the AIS patients. Vitamin D receptor (VDR) gene polymorphism has been found to be associated with low bone mineral density (BMD) in adults. However, the VDR gene polymorphism has not been discussed in AIS patients. Blood samples were obtained from 146 AIS girls and 122 healthy girls. Anthropometric parameters of AIS group including age, body height, weight and Cobb angle were all recorded. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique was used to detect and analyze VDR gene distributions of AIS group and control group. BMD of the lumbar spine (L2-L4) and proximal femur were measured using dual energy x-ray absorptiometry in AIS group. The frequency of Bb genotype was significantly higher in patients than that in controls &lpar;P&lt;0.01&rpar;. The B allele seemed to be overrepresented in patients compared with controls &lpar;P&lt;0.01&rpar;. There was no distinction among the lumbar spine and proximal femur BMD of each genotype in AIS group &lpar;P&gt;0.05&rpar;. VDR gene polymorphisms have no association with the low spine lumbar and proximal femur BMD in AIS girls.

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Inoue Masatoshi, Minami Shohei, Nakata Yoshinori, et al. "Prediction of Curve Progression in Idiopathic Scoliosis from Gene Polymorphic Analysis." In Studies in Health Technology and Informatics. IOS Press, 2002. https://doi.org/10.3233/978-1-60750-935-6-90.

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Three hundred and four girls with adolescent idiopathic scoliosis were investigated to determine if DNA polymorphisms in the vitamin D receptor (VDR), estrogen receptor (BR), and CYP17 gene were related to curve progression of idiopathic scoliosis. The results suggested that XbaJ site polymorphism in the ER gene was associated with curve progression. The Cobb&apos;s curve angle with genotype XX and Xx was statistically greater than that with genotype xx. The curve progression risk (&sim;5 degrees) was higher for genotype XX and Xx than for genotype xx. Furthermore, patients with genotype XX and Xx had a higher risk of receiving operative treatment than those with genotype xx. In conclusion, DNA analysis may predict curve progression, although other polymorphisms were not associated with curve severity.

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Nunes, Ivone Freires de Oliveira Costa, Cecilia Maria Resende Gonçalves de Carvalho, Gabriella Magalhães Silva, et al. "Association between polymorphisms in the gene encoding the vitamin D receptor, lipid profile and anthropometric parameters in elderly Brazilians." In Collection of Internacional Topics in Health Sciences V.2. Seven Editora, 2024. http://dx.doi.org/10.56238/sevened2024.016-010.

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Polymorphisms in the vitamin D receptor gene are associated with the severities of several diseases, including overweight and cardiovascular disease. In addition, vitamin D is an important determinant of health and has several functions in bone homeostasis and in various physiological and metabolic mechanisms. From this perspective, this study aimed to evaluate whether there is an association between the genetic variants Fok1 (rs2228570) and Bsm1 (rs1544410) with circulating metabolic markers of the lipid profile and anthropometric measurements in the elderly. This is a cross-sectional study conducted with 173 elderly people from Teresina, Piauí State, Brazil, whose sociodemographic and health characterization occurred through interviews. 25-hydroxyvitamin D [25(OH)D] was measured by chemiluminescence. The cut-off values used as a reference for serum lipids were from the Update of the Brazilian Guideline on Dyslipidemias and Prevention of Atherosclerosis. Genotyping was performed using the restriction fragment length polymorphism technique. The results showed that there were no statistically significant differences between the association of VDR FokI and BsmI gene polymorphisms with BMI, blood pressure and vitamin D concentrations. However, elderly carriers of the BsmI genotype, specifically Bb heterozygotes, were associated with lower values of triglycerides and HDL-cholesterol.

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Kabi, Bhaskar Charana, Manoj Kumar Nandkeoliar, Thuraya Adulsalam A. AL-Azazi, Deepa Haldar, and Pankaj Ramro Kambale. "The Association between Vitamin D Receptor (VDR) Gene Polymorphism and Prostatic Cancer." In Advanced Concepts in Medicine and Medical Research Vol. 1. B P International (a part of SCIENCEDOMAIN International), 2023. http://dx.doi.org/10.9734/bpi/acmmr/v1/7809a.

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Vilarino, Fabia Lima, Bianca Bianco, Tatiana Goberstein Lerner, et al. "Analysis of Vitamin D Receptor Gene (VDR) Polymorphisms in Women with and without Endometriosis." In BASIC/TRANSLATIONAL - Female Reproductive Physiology: Uterus, Placenta & Pregnancy, Including Endometriosis. The Endocrine Society, 2011. http://dx.doi.org/10.1210/endo-meetings.2011.part3.p25.p3-177.

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Bianco, Bianca, Ieda Therezinha do Nascimento Verreschi, Kelly Cristina Oliveira, Alexis Dourado Guedes, Caio Parente Barbosa, and Monica Vannucci Nunes Lipay. "Vitamin D Receptor Gene (VDR) Polymorphisms Are Not Associated with Autoimmune Thyroid Disease Risk in Turner Syndrome Patients." In BASIC/TRANSLATIONAL/CLINICAL - Thyroid Gland Development & Function. The Endocrine Society, 2011. http://dx.doi.org/10.1210/endo-meetings.2011.part4.p8.p3-594.

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Streszczenia konferencji na temat "VDR polymorphism"

Daremipouran, Mohammad, Desta Beyene, Seyed-Mehdi Nouraie, and Yasmine Kanaan. "Abstract 2798: VDR gene polymorphism and risk of prostate cancer in African-American." In Proceedings: AACR 101st Annual Meeting 2010‐‐ Apr 17‐21, 2010; Washington, DC. American Association for Cancer Research, 2010. http://dx.doi.org/10.1158/1538-7445.am10-2798.

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Bondar, Sergiy, Nadia Tokarchuk, Garibeh Ehab, and Yulia Vyzhga. "THE VALUE OF SINGLE-NUCLEOTIDE POLYMORPHISM BSMI VDR GENE IN PATIENTS WITH ATOPIC DERMATITIS." In INTEGRACIÓN DE LAS CIENCIAS FUNDAMENTALES Y APLICADAS EN EL PARADIGMA DE LA SOCIEDAD POST-INDUSTRIAL. European Scientific Platform, 2020. http://dx.doi.org/10.36074/24.04.2020.v3.16.

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Yarshevich, A. V., and P. M. Marozik. "ANALYSIS OF ASSOCIATION OF VDR GENE VARIANTS WITH SERUM VITAMIN D LEVEL IN PATIENTS WITH BONE-MUSCULAR DISEASE." In SAKHAROV READINGS 2021: ENVIRONMENTAL PROBLEMS OF THE XXI CENTURY. International Sakharov Environmental Institute of Belarusian State University, 2021. http://dx.doi.org/10.46646/sakh-2021-2-146-149.

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Currently, the pathology of the musculoskeletal system is considered in several multifactorial diseases, the pathogenesis of which is complex and is due to the interaction of environmental and endogenous factors. An important role in the progression of pathology is played by disorders in metabolism and a decrease in sensitivity to vitamin D. Studies of the past two decades have shown that the various biological actions of the active metabolite of vitamin D - 1,25-dihydroxy vitamin D (calcitriol) - are carried out by modulating the expression of genes that are mediated by interaction with the intracellular vitamin D receptor (VDR). VDR is a product of the corresponding gene - VDR, which determines its structure and functional activity. In this gene, a certain number of polymorphic variants have been identified that can affect gene expression.

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González Soltero, Rocío, Carlo Bressa, Mariangela Tabone, Sara Clemente, Mar Larrosa, and María Bailén. "Associations between Vitamin D Receptor (VDR) Polymorphisms and Gut Microbiota in a Spanish Population Sample." In IECN 2023. MDPI, 2023. http://dx.doi.org/10.3390/iecn2023-15530.

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Loshkova, Elena, Elena Kondratyeva, Yuri Mizernitsky, et al. "Influence of VDR gene polymorphisms on vitamin D supply in patients with bronchial asthma in the Russian Federation." In ERS International Congress 2021 abstracts. European Respiratory Society, 2021. http://dx.doi.org/10.1183/13993003.congress-2021.pa2174.

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Guzeeva, Olga, Irina Melnikova, Valentina Larionova, Valeria Novikova, and Diana Kuzmina. "GP142 Level of 25(OH)-vitamin D and vitamin D receptor (VDR) gene polymorphisms in adolescents with chronic gastroduodenitis." In Faculty of Paediatrics of the Royal College of Physicians of Ireland, 9th Europaediatrics Congress, 13–15 June, Dublin, Ireland 2019. BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health, 2019. http://dx.doi.org/10.1136/archdischild-2019-epa.206.

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Nadeem, Aamer, Zafar I. Malik, and Michael R. Lyu. "An Automated Approach to Inheritance and Polymorphic Testing using a VDM++ Specification." In 2006 IEEE International Multitopic Conference. IEEE, 2006. http://dx.doi.org/10.1109/inmic.2006.358168.

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Yousif, Sara O., Amar M. Ismail, Abdelrahim O. Mohamed, and Abdelrahim O. Mohamed. "Abstract 1455: Vitamin D receptor (VDR) gene polymorphisms among Sudanese females with breast cancer attending Radio and Isotope Center of Khartoum." In Proceedings: AACR Annual Meeting 2017; April 1-5, 2017; Washington, DC. American Association for Cancer Research, 2017. http://dx.doi.org/10.1158/1538-7445.am2017-1455.

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Taype, Carmen A., Cecilia Yshii, Roberto A. Accinelli, Jose R. Espinoza, and Marie-Anne Shaw. "Association Between LTA, IL1B, IL10, IL4 And VDR Polymorphisms And Sputum Conversion Time And Response To Anti-tuberculosis Treatment In Peruvian Patients." In American Thoracic Society 2010 International Conference, May 14-19, 2010 • New Orleans. American Thoracic Society, 2010. http://dx.doi.org/10.1164/ajrccm-conference.2010.181.1_meetingabstracts.a5452.

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Serrano, Davide, Harriet Johansson, Debora Macis, et al. "Abstract 167: A comparison of 25-OH-vitamin D levels and VDR polymorphisms in healthy and patients with breast intraepithelial neoplasia or cancer ." In Proceedings: AACR 104th Annual Meeting 2013; Apr 6-10, 2013; Washington, DC. American Association for Cancer Research, 2013. http://dx.doi.org/10.1158/1538-7445.am2013-167.

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Raporty organizacyjne na temat "VDR polymorphism"

Torrungruang, Kitti, Soranun Chantarangsu, and Thanyachai Sura. Association between vitamin D receptor gene polymorphisms and chronic periodontitis in Thais. Chulalongkorn University, 2015. https://doi.org/10.58837/chula.res.2015.18.

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Polymorphisms of the vitamin D receptor (VDR) gene have been implicated in the susceptibility to infections and bone-related diseases. However, their relationship with periodontal disease remains unclear. This cross-sectional study investigated whether the susceptibility to chronic periodontitis in a Thai population is associated with VDR polymorphisms. Genomic DNA was obtained from 1,460 subjects, aged 39-65 years. Genotyping of VDR polymorphisms (FokI, BsmI, ApaI, and TaqI) was performed using real-time polymerase chain reaction. Subjects were categorized into three groups; no/mild, moderate, and severe periodontitis. Multinomial logistic regression analysis was used to determine the degree of association between VDR polymorphisms and periodontal status adjusted for age, gender, education, smoking, and diabetes. The CC+CT genotypes of FokI polymorphism were associated with moderate and severe periodontitis with odds ratios (OR) of 1.4 (95% CI 1.0-1.9) and 2.0 (95% CI 1.3-2.9), respectively. There was no significant relationship between the other VDR polymorphisms or BsmI-ApaI-TaqI haplotypes and periodontitis. To examine gene-smoking interaction, non-smokers with the TT genotype of FokI polymorphism were used as the reference group for all comparisons. Current smokers who had the CC+CT genotypes presented the highest risk of severe periodontitis with an OR of 10.4 (95% CI 4.9-22.1), whereas their counterparts with the TT genotype and non-smokers bearing the CC+CT genotypes had an increased risk by 2.7 (95% CI 1.1-6.7) and 2.0 folds (95% CI 1.2-3.4), respectively. The combined effect of FokI polymorphism and current smoking was 3.5 times (95% CI 1.3-9.9) greater than what would be expected from the sum of their individual effects, indicating a significant additive interaction. In conclusion, our data indicate that FokI polymorphism of VDR gene was significantly associated with periodontal disease severity in this study group. We are also the first to demonstrate that FokI polymorphism and smoking synergistically interacted in increasing the risk of chronic periodontitis.

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Zhelev, Doncho V., Christopher Dupuis, Suelynn Ren, Anna Le, Mia Hunt, and Henry Gibbons. Single Nucleotide Polymorphisms (SNP)-specific Quantitative Real Time Polymerase Chain Reaction (PCR) Assay for Analyzing Competition and Emergence of the Military Hypersporulating Strains of Bacillus Atrophaeous var. Globigii. Defense Technical Information Center, 2012. http://dx.doi.org/10.21236/ada570597.

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