Vitamin D Receptor (VDR) polymorphisms & metabolic health status in a maltese cohort

2021 ◽  
Author(s):  
Kay Lee Micallef ◽  
Rachel Agius ◽  
Stephen Fava ◽  
Pace Nikolai Paul
Keyword(s):  
Vitamin D ◽  
Health Status ◽  
Vitamin D Receptor ◽  
Metabolic Health ◽  
Vdr Polymorphisms

scholarly journals Study of vitamin D receptor gene polymorphisms in a cohort of myocardial infarction patients with coronary artery disease

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Damir Raljević ◽  
Viktor Peršić ◽  
Elitza Markova-Car ◽  
Leon Cindrić ◽  
Rajko Miškulin ◽  
...  
Keyword(s):  
Myocardial Infarction ◽  
Acute Myocardial Infarction ◽  
Vitamin D ◽  
Coronary Artery ◽  
Vitamin D Receptor ◽  
Gene Polymorphisms ◽  
Vdr Gene ◽  
Vdr Polymorphism ◽  
Vdr Gene Polymorphisms ◽  
Vdr Polymorphisms

Abstract Background Vitamin D deficiency is associated with cardiovascular diseases, including coronary artery diseases (CAD). As vitamin D manifests its biological function through its vitamin D receptor (VDR), VDR gene polymorphisms potentially affect VDR functionality and vitamin D activity. Therefore, the objective of this study was to analyze three well-studied VDR gene polymorphisms—Fok1 (rs2228570), BsmI (rs1544410) and Taq1 (rs731236)—in a cohort of CAD patients after acute myocardial infarction. Methods In the presented cross-sectional study, 155 participants with CAD after acute myocardial infarction and 104 participants in a control group without CAD were enrolled. The participants in both groups were Caucasians of European origin. The genotyping of VDR polymorphisms rs2228570, rs1544410 and rs731236 was assessed by RT-PCR. Results The results show an association between the T/T genotype of the BsmI (rs1544410) and the G/G genotype of the Taq1 (rs731236) VDR polymorphism and CAD patients after acute myocardial infarction. There was no association between the Fok1 (rs2228570) VDR polymorphism and CAD patients after acute myocardial infarction. Conclusion The presented results suggest a potential association of the BsmI (rs1544410) and Taq1 (rs731236) VDR polymorphisms with CAD patients after myocardial infarction.

Vitamin D Receptor Gene (VDR) Polymorphisms Are Not Associated with Autoimmune Thyroid Disease Risk in Turner Syndrome Patients

2011 ◽  
pp. P3-594-P3-594
Author(s):  
Bianca Bianco ◽  
Ieda Therezinha do Nascimento Verreschi ◽  
Kelly Cristina Oliveira ◽  
Alexis Dourado Guedes ◽  
Caio Parente Barbosa ◽  
...  
Keyword(s):  
Vitamin D ◽  
Turner Syndrome ◽  
Vitamin D Receptor ◽  
Thyroid Disease ◽  
Autoimmune Thyroid Disease ◽  
Disease Risk ◽  
Receptor Gene ◽  
Vitamin D Receptor Gene ◽  
Autoimmune Thyroid ◽  
Vdr Polymorphisms

scholarly journals VITAMIN D RECEPTOR GENE POLYMORPHISMS AND HAPLOTYPE ANALYSIS IN TYPE 2 DIABETES MELLITUS PATIENTS FROM NORTH INDIA

2017 ◽  
Vol 10 (10) ◽  
pp. 248
Author(s):  
Nancy Taneja ◽  
Rajesh Khadgawat ◽  
Shalini Mani
Keyword(s):  
Diabetes Mellitus ◽  
Type 2 Diabetes ◽  
Vitamin D ◽  
Type 2 Diabetes Mellitus ◽  
Vitamin D Receptor ◽  
Mutant Allele ◽  
Haplotype Analysis ◽  
Vdr Gene ◽  
Vdr Polymorphisms

  Objective: Vitamin D receptor (VDR) mediated Vitamin D signaling is important for expression of insulin gene and glucose transporters, which help in glucose uptake by cells. Current evidence suggests that four common polymorphisms (FokI, BsmI, ApaI, TaqI) of VDR gene are associated with Type 2 diabetes mellitus (T2DM) in different populations. However, there is a scarcity of data on VDR polymorphisms from Indian population.Methods: In the current study, total genomic DNA was isolated from 100 well-characterized T2DM patients and 100 healthy controls. We investigated the prevalence of FokI and ApaI polymorphisms in VDR gene of these patients by polymerase chain reaction-restriction fragment length polymorphism-based method. Taking help of our previous published data on TaqI and BsmI polymorphisms in same patients, the haplotype study was also conducted. Statistical analysis of data was performed using SPSS 21.0 software. Haplotype and linkage disequilibrium analysis was performed by Haploview software.Results: Both the wild (TT) and mutant (CC) genotype of FokI polymorphism showed a significant difference between patients and controls (p<0.001 and p<0.001, respectively). The frequency of mutant allele (C) was also significantly higher in T2DM patients than the controls (p<0.001). In case of ApaI, frequency of wild (GG) and mutant (CC) genotype was significantly different in patients and controls (p=0.017 and p=0.034). As per haplotype analysis, the CACT haplotype was predicted to be of significance in patients and consists of mutant alleles of three polymorphisms (FokI, BsmI, ApaI). Conclusion: Our study supports the association of FokI and ApaI polymorphism in T2DM. The haplotype analysis also indicates that the combinations of mutant allele of different VDR polymorphisms are probably responsible for increased susceptibility of these individuals toward T2DM.

scholarly journals Vitamin D receptor (VDR) polymorphisms are associated to spontaneous preterm birth and maternal aspects

Gene ◽  
2018 ◽  
Vol 642 ◽  
pp. 58-63 ◽  
Author(s):  
N. Javorski ◽  
C.A.D. Lima ◽  
L.V.C. Silva ◽  
S. Crovella ◽  
J. de Azêvedo Silva
Keyword(s):  
Vitamin D ◽  
Preterm Birth ◽  
Vitamin D Receptor ◽  
Spontaneous Preterm Birth ◽  
Vdr Polymorphisms

Predisposing role of vitamin D receptor (VDR) polymorphisms in the development of multiple sclerosis: A case-control study

2016 ◽  
Vol 367 ◽  
pp. 148-151 ◽  
Author(s):  
Rasoul Abdollahzadeh ◽  
Mahsa Sobhani Fard ◽  
Farideh Rahmani ◽  
Kaveh Moloudi ◽  
Behrooz Sadeghi kalani ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Vitamin D ◽  
Vitamin D Receptor ◽  
Case Control Study ◽  
Case Control ◽  
Control Study ◽  
Vdr Polymorphisms

scholarly journals Vitamin D Receptor Genetic Variation and Cancer Biomarkers among Breast Cancer Patients Supplemented with Vitamin D3: A Single-Arm Non-Randomized Before and After Trial

Nutrients ◽  
2019 ◽  
Vol 11 (6) ◽  
pp. 1264 ◽  
Author(s):  
Elham Kazemian ◽  
Mohammad Esmaeil Akbari ◽  
Nariman Moradi ◽  
Safoora Gharibzadeh ◽  
Alison M. Mondul ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Vitamin D ◽  
Cancer Survivors ◽  
Vitamin D Receptor ◽  
Adhesion Molecule ◽  
Vitamin D3 ◽  
Breast Cancer Survivors ◽  
Cancer Biomarkers ◽  
Vitamin D3 Supplementation ◽  
Vdr Polymorphisms

We investigated whether vitamin D receptor (VDR) polymorphisms were associated with cancer biomarkers, i.e., E-cadherin, matrix metallopeptidase 9 (MMP9), interferon β (IFNβ), soluble intercellular adhesion molecule-1 (s-ICAM-1), soluble vascular cell adhesion molecule-1 (s-VCAM-1), tumor necrosis factorα (TNFα), interleukin 6 (IL6), plasminogen activator inhibitor-1(PAI-1), and human high sensitivity C-reactive protein (hs-CRP), among breast cancer survivors who received vitamin D3 supplementation. In a single-arm non-randomized pre- and post trial, 176 breast cancer survivors who had completed treatment protocol including surgery, radio and chemotherapy were enrolled in the study and received 4000 IU of vitamin D3 daily for 12 weeks. The association between the VDR SNPs (ApaI, TaqI, FokI, BsmI and Cdx2) and response variable changes was assessed using linear regression, utilizing the “association” function in the R package “SNPassoc”. We observed that women with AA and GA [codominant model (AA compared to GG) and (GA compared to GG); dominant model (AA & GA compared to GG)] genotypes of Cdx2 showed higher increase in plasma MMP9 levels compared to the GG category. In addition, carriers of BsmI bb showed greater decrease in circulating TNFα levels after vitamin D3 supplementation [recessive model (bb compared to BB & Bb]. Likewise, significant associations were identified between haplotypes of VDR polymorphisms and on-study plasma MMP9 changes. However, our results indicate that VDR genetic polymorphisms were not associated with longitudinal changes in the remaining cancer biomarkers. Overall, our findings suggest that changes in certain inflammatory biomarkers in breast cancer survivors with low plasma 25(OH)D levels, supplemented with vitamin D3, may depend on VDR SNPs and haplotypes.

scholarly journals Investigation of the Vitamin D Receptor Polymorphisms in Acromegaly Patients

2015 ◽  
Vol 2015 ◽  
pp. 1-7 ◽  
Author(s):  
Muzaffer Ilhan ◽  
Bahar Toptas-Hekimoglu ◽  
Ilhan Yaylim ◽  
Seda Turgut ◽  
Saime Turan ◽  
...  
Keyword(s):  
Vitamin D ◽  
Vitamin D Receptor ◽  
Fragment Length Polymorphism ◽  
Chain Reaction ◽  
Vdr Polymorphism ◽  
Structural Alterations ◽  
Increased Risk ◽  
Significant Difference ◽  
Polymerase Chain ◽  
Vdr Polymorphisms

Objective. The genetic structural alterations in the majority of somatotroph adenomas are not clarified and the search for novel candidate genes is still a challenge. We aimed to investigate possible associations between vitamin D receptor (VDR) polymorphisms and acromegaly.Design, Patients, and Methods. 52 acromegaly patients (mean age45.7±1.9years) and 83 controls (mean age43.1±2.6years) were recruited to the study. VDR polymorphism was determined by polymerase chain reaction-based restriction fragment length polymorphism methods.Results. The distribution of VDR genotypes showed a significant difference in the frequencies of VDR FokI genotypes between patients and controls (P=0.034). VDR FokI ff genotype was significantly decreased in acromegaly patients (P=0.035) and carriers of FokI Ff genotype had a 1.5-fold increased risk for acromegaly (OR: 1.5, 95% CI: 1.07–2.1;P=0.020). IGF1 levels after treatment were significantly higher in patients carrying the Ff genotype compared to carrying ff genotype (P=0.0049). 25(OH)D3 levels were significantly lower in acromegaly patients (P<0.001).Conclusions. Our study suggests that VDR FokI genotypes might affect the development of acromegaly and VDR polymorphisms may play a role in the course of acromegaly as a consequence of altering hormonal status.

scholarly journals Vitamin D receptor (VDR) polymorphisms and risk of ovarian cancer in Caucasian and African American women

2013 ◽  
Vol 129 (1) ◽  
pp. 173-178 ◽  
Author(s):  
Delores J. Grant ◽  
Cathrine Hoyo ◽  
Lucy Akushevich ◽  
Edwin S. Iversen ◽  
Regina Whitaker ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Vitamin D ◽  
African American ◽  
African American Women ◽  
Vitamin D Receptor ◽  
American Women ◽  
Vdr Polymorphisms

Serum 25-Hydroxy vitamin D levels and Metabolic Health Status in Obese individuals in Pakistan

2016 ◽  
Vol 12 (7) ◽  
pp. S205
Author(s):  
BUSHRA Chaudhry ◽  
Asifa Alia ◽  
Maryam Mah-e-Nu ◽  
Farina Hanif
Keyword(s):  
Vitamin D ◽  
Health Status ◽  
Metabolic Health ◽  
Vitamin D Levels ◽  
25 Hydroxy Vitamin D

scholarly journals The role of vitamin D receptor gene polymorphisms in gestational diabetes mellitus susceptibility: a meta-analysis

2021 ◽  
Vol 13 (1) ◽  
Author(s):  
Sai Liu
Keyword(s):  
Diabetes Mellitus ◽  
Vitamin D ◽  
Gestational Diabetes ◽  
Gene Polymorphism ◽  
Gestational Diabetes Mellitus ◽  
Vitamin D Receptor ◽  
Meta Analysis ◽  
Recessive Model ◽  
Vdr Gene ◽  
Vdr Polymorphisms

Abstract Background Gestational diabetes mellitus (GDM) is a common disease during pregnancy. The association of vitamin D receptor (VDR) polymorphisms with GDM is still controversial. This study aimed to assess the associations between VDR polymorphisms and GDM risk. Methods We searched Cochrane Library, PubMed, and Embase electronic database for all eligible studies published from Jan 1, 1980 to December 31, 2020 to conduct a Meta-analysis. We analyzed four VDR polymorphisms: BsmI (rs1544410), ApaI (rs7975232), TaqI (rs731236), and FokI (rs2228570). Inclusion Criteria: (1) The data can be evaluated; (2) case–control study; and (3) meeting the Hardy–Weinberg’s law. Exclusion criteria: (1) Insufficient or extractable data; (2) Severe publication bias in the data; and (3) duplicate publications. We eventually included 15 studies in seven articles, including 2207 cases and 2706 controls. Results We eventually included 15 studies in seven articles, including 2207 cases and 2706 controls. The data showed that ApaI (rs7975232) VDR gene polymorphism was related with the risk of GDM for the comparison of CC vs AA and recessive model in overall population and FokI (rs2228570) VDR gene polymorphism was associated with the risk of GDM for recessive model in overall population. BsmI (rs1544410) polymorphism was not related with the risk of GDM in overall population. However, in the analysis of subgroups grouped by race, BsmI (rs1544410) has certain correlations. And, the data suggested the TaqI (rs731236) polymorphism was not associated with GDM. Conclusion Based on the meta-analysis, VDR ApaI (rs7975232) and FokI (rs2228570) polymorphisms increase susceptibility to GDM. In the future, it can be used to diagnose and screen molecular biomarkers for GDM patients.

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