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Artykuły w czasopismach na temat „VDR polymorphism”

Autor: Grafiati

Data publikacji: 2 czerwca 2025

Data aktualizacji: 31 lipca 2025

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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

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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

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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 w

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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 Tubercul

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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 var

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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 l

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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. Genom

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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 blo

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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. Res

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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

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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 an

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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

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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).

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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) utiliz

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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

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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 inte

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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 e

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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

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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 associ

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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

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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

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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 Fille

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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 si

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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 significan

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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, COL

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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

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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 suc

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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 polymo

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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

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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–

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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. Se

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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 ti

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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

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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 inte

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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-hydroxyvitami

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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 e

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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

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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 u

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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)

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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 201

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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 th

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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 rs731

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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

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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 chemilumine

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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) polymorp

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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 associ

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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. N

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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

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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 C

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