scholarly journals Vitamin D and VDR Gene Polymorphisms’ Association with Rheumatoid Arthritis in Lithuanian Population

Medicina ◽  
2021 ◽  
Vol 57 (4) ◽  
pp. 346
Author(s):  
Egle Punceviciene ◽  
Justina Gaizevska ◽  
Rasa Sabaliauskaite ◽  
Lina Venceviciene ◽  
Alina Puriene ◽  
...  
Keyword(s):  
Rheumatoid Arthritis ◽  
Vitamin D ◽  
Disease Activity ◽  
Vitamin D Deficiency ◽  
Gene Polymorphisms ◽  
Disease Risk ◽  
University Hospital ◽  
Healthy Controls ◽  
Vdr Gene ◽  
Vdr Gene Polymorphisms

Background and Objectives: Rheumatoid arthritis (RA) is a chronic, inflammatory, autoimmune, multi-factorial disease, in which environmental and genetic factors play a major role. RA is possibly linked to vitamin D deficiency and vitamin D receptor (VDR) gene polymorphisms, and research demonstrates that FokI variant susceptibility is associated with increased disease risk among Caucasians. The aim of this study was to evaluate vitamin D deficiency prevalence and its correlation to RA clinical parameters, and to determine the possible association of VDR gene polymorphisms and RA susceptibility in the Lithuanian population. Materials and Methods: Overall, 206 RA patients and 180 age- and sex-matched healthy controls were enrolled at Vilnius University Hospital Santaros Klinikos after informed consent was obtained. The disease activity score 28 C-reactive protein (DAS28 CRP), rheumatoid arthritis impact of disease (RAID) score, and health assessment questionnaire (HAQ) were recorded in RA patients, and 25(OH)D serum levels were evaluated by chemiluminescent microparticle immunoassay for all subjects. Four VDR gene polymorphisms, BsmI, FokI, ApaI, and TaqI, were assessed using real-time PCR instruments and genotyping assays in both groups. Results: The study registered a high prevalence of 25(OH)D deficiency (<50 nmol/L) in RA patients (61.55% (n = 127)). The mean serum concentration in RA patients (44.96 ± 21.92 (nmol/L)) was significantly lower than in the healthy controls (54.90 ± 22.82 (nmol/L)), p < 0.0001. A significant inverse correlation between vitamin D level, DAS28 CRP, and HAQ scores was confirmed in RA patients, with p < 0.05. Still, there was no significant association between the overall risk of RA disease for any allele or genotype of the four VDR loci tested. Conclusions: The study confirmed that vitamin D deficiency is prevalent among RA patients and the 25(OH)D level is significantly lower compared with healthy controls. Lower vitamin D concentration was related with increased disease activity and disability scores. However, genetic analysis of four VDR polymorphisms did not confer the susceptibility to RA in Lithuanian population.

scholarly journals Association of vitamin D receptor gene polymorphisms with rheumatoid arthritis

2021 ◽  
Author(s):  
Noelia Marquez Pete ◽  
Cristina Perez Ramirez ◽  
Maria del Mar Maldonado Montoro ◽  
Fernando Martinez Martinez ◽  
Fernando Fernández-Llimos ◽  
...  
Keyword(s):  
Rheumatoid Arthritis ◽  
Vitamin D ◽  
Gene Polymorphisms ◽  
Haplotype Analysis ◽  
Functional Disability ◽  
Receptor Gene ◽  
Unknown Etiology ◽  
Vdr Gene ◽  
Vdr Gene Polymorphisms ◽  
Receptor Gene Polymorphisms

IntroductionRheumatoid arthritis (RA) is a chronic inflammatory autoimmune disease of unknown etiology which causes progressive deterioration of the joints, leading to severe pain and functional disability. Vitamin D and its receptor (VDR) play a significant part in the onset of autoimmune diseases such as RA. The purpose of this study was to evaluate the association between VDR gene polymorphisms and risk of developing RA.Material and methodsA retrospective study was performed, including 214 RA cases and 748 controls of Caucasian origin. FokI (rs2228570), BsmI (rs1544410), TaqI (rs731236), ApaI (rs7975232) and Cdx2 (rs11568820) gene polymorphisms were analyzed by TaqManResultsThe recessive logistic regression model showed that the VDR FokIAA genotype was associated with lower risk of RA (p = 0.0255; OR = 0.58; 95% CI: 0.35–0.92). No other genetic polymorphism showed any association with RA in any of the models tested. Haplotype analysis revealed that the haplotypes ACGAG (p = 0.033; OR = 1.62; 95% CI: 1.04–2.53) and GTGCA (p < 0.01; OR = 2.77; 95% CI: 1.53–4.98) for BsmI, Cdx2, FokI, ApaI and TaqI were associated with higher risk of RA.ConclusionsVDR FokI gene polymorphism showed a trend for risk of RA, taking into account the variables of gender, age and tobacco use, and preventing false positives. Among our patients we found no influence of VDR BsmI, TaqI, ApaI and Cdx2 on the risk of developing RA. However, haplotype analysis indicated that the haplotypes ACGAG and GTGCA were associated with higher risk of RA.

Vitamin D Receptor Gene Polymorphisms in Childhood Brucellosis in Turkish Children

2021 ◽  
Author(s):  
Ayse Kaman ◽  
Fatma Nur Öz ◽  
Gülseren Sahin ◽  
Özge Metin Akcan
Keyword(s):  
Vitamin D ◽  
Vitamin D Receptor ◽  
Gene Polymorphisms ◽  
Receptor Gene ◽  
Vitamin D Receptor Gene ◽  
Genotype Distribution ◽  
Healthy Controls ◽  
Vdr Gene ◽  
Taqi Polymorphism ◽  
Vdr Gene Polymorphisms

Abstract Objective The vitamin D receptor gene (VDR) polymorphisms and the risk of various infections have been studied. An association with brucellosis and vitamin D levels has been investigated but not yet with VDR gene polymorphisms. We aimed to examine the association between VDR gene polymorphisms and susceptibility to childhood brucellosis. Methods This case–control study included patients with brucellosis and healthy controls. After extracting genomic DNA using a Qiagen blood DNA isolation kit, five VDR single nucleotide polymorphisms (SNPs), including Cdx-2, FokI, BsmI, ApaI, and TaqI gene, were amplified. Genetic distribution of these SNPs of VDR gene in patient and control groups were compared. Results A total of 38 patients with brucellosis and 89 healthy controls were evaluated. The genotype distribution of Cdx2, FokI, BsmI, and ApaI polymorphisms were similar between patients and healthy controls. However, the CC homozygous genotype for VDR gene TaqI was significantly overexpressed in patients compared with controls (23.7 vs. 7.9%; p = 0.042). The frequency of the C allele of the TaqI genotype was significantly different between patients and controls (p = 0.018). On the other hand, presence of the A allele in the BsmI was associated considerably with an increased risk of brucellosis (p = 0.037). VDR polymorphism distribution was similar according to age, presence of complicated disease, and presence of bacteremia. The heterozygote TaqI polymorphism was more common in patients presented as subacute and chronic symptoms (p = 0.036). Conclusion Our results indicated the possible role in TaqI polymorphism of the VDR gene for the risk of brucellosis at the time of exposure to infection.

AB0272 Bsmi and Foki VDR Gene Polymorphisms Influence Disease Activity in Established Rheumatoid Arthritis Patients

2014 ◽  
Vol 73 (Suppl 2) ◽  
pp. 894.2-894
Author(s):  
M. Bernardes ◽  
J.C. Machado ◽  
D. Gonçalves ◽  
J. Abelha-Aleixo ◽  
R. Fonseca ◽  
...  
Keyword(s):  
Rheumatoid Arthritis ◽  
Disease Activity ◽  
Gene Polymorphisms ◽  
Established Rheumatoid Arthritis ◽  
Vdr Gene ◽  
Vdr Gene Polymorphisms

scholarly journals Vitamin D Receptor Gene Polymorphisms in Susceptibility to Tuberculosis in the Kazakh Population in Almaty and Almaty Area

2014 ◽  
Vol 2 ◽  
Author(s):  
Maxat Zhabagin ◽  
Zhannur Abilova ◽  
Ayken Askapuli ◽  
Saule Rakhimova ◽  
Ulykbek Kairov ◽  
...  
Keyword(s):  
Vitamin D ◽  
Vitamin D Receptor ◽  
Gene Polymorphisms ◽  
Disease Risk ◽  
Mononuclear Phagocytes ◽  
Control Analysis ◽  
Vdr Gene ◽  
Exon 2 ◽  
Kazakh Population ◽  
Vdr Gene Polymorphisms

Introduction: Vitamin D receptor (VDR) plays an important role in activating the immune response against various infectious agents. It is known that the active metabolite of ligand receptor Vitamin D (1,25 – dihydroxyvitamin D) is encoded by VDR and helps mononuclear phagocytes to suppress the intracellular growth of M. tuberculosis. The VDR gene harbors approximately 200 polymorphisms, some of which are linked to differences in receptor Vitamin D uptake and therefore can be considered as candidate disease risk variants. The relation between VDR gene polymorphisms and susceptibility to TB has been studied in different populations. There is not a great deal of information regarding the association of these SNPs with TB risk in the Kazakh population. The four most commonly investigated VDR polymorphisms in association with different diseases, including susceptibility to tuberculosis, are located in exon 2 (rs2228570 or FokI), intron 8 (rs1544410 or BsmI and rs7975232 or ApaI), and exon 9 (rs731236 or TaqI). The aim of our study was to determine whether these four VDR gene single nucleotide polymorphisms were associated with TB and whether they were a risk for the development of TB in the Kazakh Population in Almaty city and Almaty area.Methods: This study was a hospital-based case-control analysis of 283 individuals (99 TB patients and 184 healthy controls). Genotyping was performed by Taqman SNP allelic discrimination using commercial TaqMan SNP Genotyping assays.  Statistical analysis was conducted using SPSS Version 19.0 software.Results: Genotype frequencies for the Kazakh population are close to world (HapMap) data on Asian populations. FokI and ApaI polymorphisms genotypes tend to be associated with TB risk under the co-dominant model [OR=1.18; 95%CI: (0.68, 2.07), p=0.15] for FokI and [OR=1.33; 95%CI: (0.61, 2.91), p=0.6] for ApaI. No significant association between the disease and TaqI, BsmI genotypes was observed.Conclusions: In summary, we explored potential associations between SNPs in the VDR (FokI, ApaI) gene and susceptibility to tuberculosis in the Kazakh Population, which requires further detailed analysis with a larger sample size and greater geographic diversity including other regions of Kazakhstan.

scholarly journals Association of Vitamin D Receptor gene polymorphisms with the occurrence of low bone density, osteopenia, and osteoporosis in patients with type 2 diabetes

2020 ◽  
Author(s):  
Maryam Ghodsi ◽  
Abbas Ali Keshtkar ◽  
Farideh Razi ◽  
Mahsa Mohammad Amoli ◽  
Ensieh Nasli-Esfahani ◽  
...  
Keyword(s):  
Vitamin D ◽  
Bone Density ◽  
Vitamin D Deficiency ◽  
Vitamin D Receptor ◽  
Gene Polymorphisms ◽  
Receptor Gene ◽  
Vdr Gene ◽  
Low Bone Density ◽  
Vdr Gene Polymorphisms

Abstract Background Diabetes, osteoporosis, and Vitamin D deficiency are interrelated. The association of the Vitamin D receptor (VDR) gene with bone density is not established in different populations. This study analyze the association between five VDR gene polymorphisms (Fok1 (rs2228570), Taq1 (rs731236), Bsm1 (rs1544410), Apa1 (rs7975232), and EcoRV (rs4516035)) and the occurrence of low bone density (LBD)/osteopenia/osteoporosis in Iranian type 2 diabetics (T2D).Methods This study contained 165 patients with T2D. Separated for gender and polymorphism, crude and adjusted (for age and BMI), logistic regression analysis provided odds ratios (ORs). The most common haplotype was used as the reference for each type of VDR gene polymorphism.Results The occurrence of T2D was 13.03% (165/1266) for the people dwelling in the city of Sanandaj in 2012, until 2013. 13.92% and 81.29% of participants with T2D had osteoporosis and vitamin D deficiency, respectively. In women, tt genotype significantly decreased the risk of LBD/osteopenia/osteoporosis versus Tt genotype, after adjusting for BMI and age (OR=0.18, CI: 0.03-0.97). Conversely, the EE genotype increased the risk of LBD/osteopenia/osteoporosis versus Ee genotype (OR=7.64, CI: 2.03-28.72).Conclusions Among the patients with T2D, Vitamin D deficiency and osteoporosis were prevalent, and some genetic variations in VDR were significantly associated with osteoporosis. In women, a weak protective role in LBD/osteopenia/osteoporosis was found for tt variant of TaqI polymorphism. More importantly, EE variant of EcoRV polymorphism had a strong significant association with increasing the risk of LBD/osteopenia/osteoporosis. Further ethnicity-based cohort studies based on a large study group of T2D patients are recommended.

scholarly journals Association of Vitamin D Receptor Gene Polymorphisms with Serum Vitamin D Levels in a Greek Rural Population (Velestino Study)

2021 ◽  
pp. 1-10
Author(s):  
Natalia Divanoglou ◽  
Despina Komninou ◽  
Eleni A. Stea ◽  
Anagnostis Argiriou ◽  
Grigorios Papatzikas ◽  
...  
Keyword(s):  
Vitamin D ◽  
Vitamin D Deficiency ◽  
Vitamin D Receptor ◽  
Rural Population ◽  
Gene Polymorphisms ◽  
Molecular Mechanisms ◽  
Vdr Gene ◽  
Increased Risk ◽  
Vitamin D Levels ◽  
Vdr Gene Polymorphisms

<b><i>Background/Aim:</i></b> An alarming increase in vitamin D deficiency even in sunny regions highlights the need for a better understanding of the genetic background of the vitamin D endocrine system and the molecular mechanisms of gene polymorphisms of the vitamin D receptor (VDR). In this study, the serum levels of 25(OH)D<sub>3</sub> were correlated with common VDR polymorphisms (<i>ApaI, BsmI, FokI</i>, and <i>TaqI</i>) in 98 subjects of a Greek homogeneous rural population. <b><i>Methods:</i></b> 25(OH)D<sub>3</sub> concentration was measured by ultra-HPLC, and the VDR gene polymorphisms were identified by quantitative real-time PCR followed by amplicon high-resolution melting analysis. <b><i>Results:</i></b> Subjects carrying either the B <i>BsmI</i> (OR: 0.52, 95% CI: 0.27–0.99) or t <i>TaqI</i> (OR: 2.06, 95%: 1.06–3.99) allele presented twice the risk for developing vitamin D deficiency compared to the reference allele. Moreover, subjects carrying 1, 2, or all 3 of these genotypes (BB/Bb, Tt/tt, and FF) demonstrated 2-fold (OR: 2.04, 95% CI: 0.42–9.92), 3.6-fold (OR: 3.62, 95% CI: 1.07–12.2), and 7-fold (OR: 6.92, 95% CI: 1.68–28.5) increased risk for low 25(OH)D<sub>3</sub> levels, respectively. <b><i>Conclusions:</i></b> Our findings reveal a cumulative effect of specific VDR gene polymorphisms that may regulate vitamin D concentrations explaining, in part, the paradox of vitamin D deficiency in sunny regions, with important implications for precision medicine.

Are vitamin D deficiency and VDR gene polymorphisms associated with high blood pressure as defined by the ACC/AHA 2017 criteria in postmenopausal women?

Maturitas ◽  
2021 ◽  
Author(s):  
Betânia Rodrigues dos Santos ◽  
Gislaine Casanova ◽  
Thais Rasia da Silva ◽  
Lucas Bandeira Marchesan ◽  
Karen Oppermann ◽  
...  
Keyword(s):  
Blood Pressure ◽  
Vitamin D ◽  
Vitamin D Deficiency ◽  
Postmenopausal Women ◽  
High Blood Pressure ◽  
Gene Polymorphisms ◽  
Vdr Gene ◽  
Vdr Gene 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.

scholarly journals The Vitamin D Receptor (VDR) Gene Polymorphisms in Turkish Brain Cancer Patients

2013 ◽  
Vol 2013 ◽  
pp. 1-6 ◽  
Author(s):  
Bahar Toptaş ◽  
Ali Metin Kafadar ◽  
Canan Cacina ◽  
Saime Turan ◽  
Leman Melis Yurdum ◽  
...  
Keyword(s):  
Vitamin D ◽  
Cancer Patients ◽  
Vitamin D Receptor ◽  
Brain Cancer ◽  
Gene Polymorphisms ◽  
Vdr Gene ◽  
Increased Risk ◽  
Vdr Gene Polymorphisms ◽  
Significant Difference ◽  
Healthy Control

Objective. It has been stated that brain cancers are an increasingly serious issue in many parts of the world. The aim of our study was to determine a possible relationship between Vitamin D receptor (VDR) gene polymorphisms and the risk of glioma and meningioma.Methods. We investigated the VDR Taq-I and VDR Fok-I gene polymorphisms in 100 brain cancer patients (including 44 meningioma cases and 56 glioma cases) and 122 age-matched healthy control subjects. This study was performed by polymerase chain reaction-based restriction fragment length polymorphism (RF LP).Results. VDR Fok-I ff genotype was significantly increased in meningioma patients (15.9%) compared with controls (2.5%), and carriers of Fok-I ff genotype had a 6.47-fold increased risk for meningioma cases. There was no significant difference between patients and controls for VDR Taq-I genotypes and alleles.Conclusions. We suggest that VDR Fok-I genotypes might affect the development of meningioma.

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