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Association of vitamin D receptor gene BsmI (A>G) and FokI (C>T) polymorphism in gestational diabetes among Saudi Women.

ABSTRACT: OBJECTIVE:Vitamin D receptor (VDR) gene polymorphism have a role in diabetes mellitus pathogenesis. Present study was conducted to determine VDR gene variants among Saudi gestational diabetics (GDM) in Madina, KSA. METHODS:This cross sectional study was conducted on 112 GDM patients and 218 normal healthy control. Age, body mass index and blood pressure levels were recorded. Serum triglycerides (mg/dl), total cholesterol, HDL-cholesterol, LDL-cholesterol, fasting blood glucose FBG and post-prandial blood glucose PPBG were estimated. Extracted DNA template was amplified by PCR reaction and genotyped for single nucleotide polymorphism of BsmI and FokI by restriction fragment length polymorphism-PCR (RFLP-PCR) analysis. RESULTS:FBG and PPBG levels in GDM patients were significantly elevated by +48.6% and +50%, respectively (P=0.005). Serum triglycerides, total cholesterol and LDL-cholesterol (mg/dl) levels in GDM patients were elevated significantly by +40.5% (P=0.005), +16% (P=0.01) and +30.8% (P=0.005), respectively. Serum HDL-cholesterol (mg/dl) showed significant decline by -10.5%. FokI VDR genotypes showed association with PPBG (P=0.05) among GDM patients. The Ff, FF and ff genotype percentage among GDM patients was 48.2%, 30.4% and 21.4%, respectively. FokI (F and f) and BsmI (B and b) alleles frequency showed no significant difference between GDM patients and control. Percentage BsmI and FokI total homozygous and heterozygous variants among GDM was 45.5% and 81.4%, respectively. CONCLUSION:VDR BsmI and FokI polymorphic marker not associated with Saudi GDM.

SUBMITTER: El-Beshbishy HA

PROVIDER: S-EPMC4744276 | biostudies-literature | 2015 Nov-Dec

REPOSITORIES: biostudies-literature

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Association between Vitamin D Receptor Polymorphisms (BsmI and FokI) and Glycemic Control among Patients with Type 2 Diabetes.

Project description:(1) Background: Several studies have suggested that the vitamin D receptor (VDR) gene plays a role in type 2 diabetes mellitus (T2DM) susceptibility. Nonetheless, the association between T2DM and VDR polymorphisms remains inconclusive. We determined the genotype of VDR rs1544410 (BsmI) and rs2228570 (FokI) polymorphisms among Malaysian patients with T2DM and their association with glycemic control factors (vitamin D levels, calcium, magnesium, and phosphate). (2) Methods: A total of 189 participants comprising 126 patients with T2DM (63 with good glycemic control and 63 with poor glycemic control) and 63 healthy controls were enrolled in this case-control study. All biochemical assays were measured using spectrophotometric analysis. VDR gene FokI and BsmI polymorphisms were analyzed using polymerase chain reaction and endonuclease digestion. (3) Results: Our findings revealed no significant differences in VDR FokI and BsmI genotypes between participants with T2DM and healthy controls. Moreover, no significant association was observed between both single nucleotide polymorphisms and glycemic control factors. Participants with poor glycemic control had significantly lower serum magnesium levels and significantly higher HOMA-IR compared to the other groups. (4) Conclusions: The present study revealed that VDR gene BsmI and FokI polymorphisms were not significantly associated with T2DM.

| S-EPMC7914454 | biostudies-literature

Association of Vitamin D receptor gene BsmI polymorphism with type 2 diabetes mellitus in Pakistani population.

Project description:Background:Type 2 diabetes mellitus (T2DM) is a complex metabolic disorder with strong genetic components. The reported association of vitamin D receptor (VDR) gene polymorphisms varies among ethnic groups. Objectives:The present study was conducted to determine association of vitamin D receptor gene BsmI (rs1544410 A>G) polymorphism with type 2 diabetes mellitus in Pakistani population. Methods:Blood samples were collected from 150 T2DM patients and 100 non-diabetic engaged by convenient sampling method. After collection of demographic data, assessment of fasting glucose (FG), vitamin D, HbA1c, renal function tests, liver function tests and lipid profile was done. Candidate gene polymorphism was analyzed by DNA amplification with polymerase chain reaction and endonuclease digestion. Results:Biochemical parameters were significantly different among case and control groups. Associations of BsmI genotype with T2DM, related complications and biochemical variables were not significant. Conclusion:The current study did not provide evidence for the association of VDR gene BsmI polymorphism with T2DM in Pakistani population.

| S-EPMC6794500 | biostudies-literature

Vitamin D receptor BsmI polymorphism and osteoporosis risk in post-menopausal women.

Project description:IntroductionMany studies have suggested that the vitamin D receptor polymorphism BsmI might be associated with the risk of osteoporosis development in post-menopausal women. However, the results have been inconsistent. The aim of this meta-analysis was to derive a more precise evaluation of the relationship.Material and methodsPublished literature from PubMed, EMBASE and the CNKI database was searched. Crude odds ratios (ORs) with 95% confidence intervals (CIs) were used to assess the strength of any association.ResultsTen case-control studies were included with a total of 1,403 osteoporosis cases and 2,144 healthy controls. In the overall analysis, no significant association was found between BsmI polymorphism and osteoporosis risk (BB vs. bb: OR = 0.76, 95% CI = 0.39-1.48; BB vs. Bb: OR = 0.90, 95% CI = 0.71-1.15; dominant model: OR = 1.20, 95% CI = 0.74-1.93; recessive model: OR = 0.83, 95% CI = 0.53-1.30). In the subgroup analysis by ethnicity, the results showed similar result that BsmI polymorphism m had no association with osteoporosis.ConclusionsResults from the current meta-analysis suggest that vitamin D receptor BsmI polymorphism may not be a risk factor for osteoporosis in post-menopausal women.

| S-EPMC4754363 | biostudies-literature

Association between vitamin D receptor BsmI, FokI, and Cdx2 polymorphisms and osteoporosis risk: an updated meta-analysis.

Project description:Many studies have reported the association between vitamin D receptor (VDR) polymorphism and osteoporosis risk. However, their results were conflicting. Six previous meta-analyses have been published to analyze VDR BsmI, FokI, and Cdx2 polymorphisms on osteoporosis risk. However, they did not evaluate the reliability of statistically significant associations. Furthermore, a lot of new articles have been published on these themes, and therefore an updated meta-analysis was performed to further explore these issues. To explore the association between VDR BsmI, FokI, and Cdx2 polymorphisms polymorphisms and osteoporosis risk. The odds ratios (ORs) and 95% confidence intervals (95% CIs) were pooled to evaluate the association between VDR BsmI, FokI, and Cdx2 polymorphisms and osteoporosis risk. To evaluate the credibility of statistically significant associations, we applied the false-positive report probabilities (FPRPs) test and the Venice criteria. Overall, statistically significantly increased osteoporosis risk was found in Indians and women for VDR FokI polymorphism. Statistically significantly decreased osteoporosis risk was found in West Asians for VDR BsmI polymorphism. However, when we performed a sensitivity analysis after excluding low quality and Hardy-Weinberg Disequilibrium (HWD) studies, significantly decreased osteoporosis risk was only found in overall population for VDR BsmI polymorphism. Further, less-credible positive results were identified when we evaluated the credibility of positive results. These positive findings should be interpreted with caution and indicate that significant association may most likely result from less-credible, rather than from true associations or biological factors on the VDR BsmI and FokI polymorphisms with osteoporosis risk.

| S-EPMC7364509 | biostudies-literature

Vitamin D receptor gene FokI but not TaqI, ApaI, BsmI polymorphism is associated with Hashimoto's thyroiditis: a meta-analysis.

Project description:Four VD receptor (VDR) gene polymorphisms (TaqI, ApaI, FokI and BsmI) have been reported to influence Hashimoto's thyroiditis (HT) risk. However, individual studies have produced inconsistent results. We conducted a comprehensive meta-analysis of eleven case-control studies to better understand roles of the four polymorphisms in HT development. The results showed only FokI polymorphism was significantly associated with the risk of HT (F vs f: OR = 1.44, 95% CI = 1.09-1.91, P = 0.010; FF vs Ff + ff: OR = 1.72, 95% CI = 1.09-2.70, P = 0.019). Subgroup analyses demonstrated the significant effect was only present in Asian population (F vs f: OR = 1.45, 95% CI = 1.07-1.95, P = 0.016; FF vs ff: OR = 1.64, 95% CI = 1.03-2.59, P = 0.036; FF + Ff vs ff: OR = 1.34, 95% CI = 1.00-1.80, P = 0.047; FF vs Ff + ff: OR = 1.64, 95% CI = 1.03-2.64, P = 0.039), but not in Caucasian. For TaqI, ApaI and BsmI polymorphisms, no significant association was found in any model comparison. Based on the current literature, it appears that only VDR FokI polymorphism is associated with HT risk in Asian population, but not in Caucasians; and the TaqI, ApaI and BsmI polymorphisms have not positive association neither in the overall population, nor when stratified by ethnicity. Further well-designed studies with larger sample sizes and different ethnic population are needed to clarify the present findings.

| S-EPMC5278388 | biostudies-literature

The VDR gene FokI polymorphism is associated with gestational diabetes mellitus in Turkish women.

Project description:BackgroundThe association between the vitamin D receptor (VDR) gene and gestational diabetes mellitus (GDM) has not been investigated in Turkish pregnant women. We aimed to investigate associations between VDR gene BsmI (rs15444410), ApaI (rs7975232), FokI (rs19735810), and TaqI (rs731236) single nucleotide polymorphisms (SNPs) and GDM.Material-methodsThis case-control study comprised 100 women with GDM and 135 pregnant women without GDM. The VDR polymorphism was evaluated using Sanger-based DNA sequencing.ResultVDR gene ApaI, BsmI, and TaqI SNPs did not differ between women with and without GDM (each, p > 0.05). ApaI, BsmI, and TaqI were not associated with GDM risk. The VDR gene FokI CT/TT genotype was associated with an increased GDM risk (CT vs. CC, OR = 1.84, 95% CI: [1.05-3.23], p = 0.031; TT vs. CC, OR = 3.95, 95% CI: [1.56-9.96], p = 0.002; CT/TT vs. CC, OR = 2.29, 95% CI: [1.35-3.89], p = 0.002; and CT/CC vs. TT, OR = 3.02, 95% CI: [1.23-7.38], p = 0.012). The FokI-TT genotype was more associated with younger age and higher glucose, HbA1c, and HOMA-IR than the CC and CT genotype. FokI-T was positively correlated with log-HOMA-IR (r = 0.326, p = 0.004). FokI SNPs were independently associated with GDM after adjusting for BMI and age (β = 1.63, 95% CI: [1. 2-4.2], p = 0.012). There were no associations between the FokI, ApaI, BsmI and TaqI haplotypes and GDM.ConclusionVDR gene FokI SNPs were independently associated with having GDM in Turkish women. VDR gene FokI SNPs might contribute to insulin resistance of developing GDM.

| S-EPMC6524275 | biostudies-literature

Lack of association of vitamin D receptor BsmI gene polymorphism with bone mineral density in Spanish postmenopausal women.

Project description:Osteoporosis is a polygenic disorder that is determined by the effects of several genes, each with relatively modest effects on bone mass. The aim of this study was to determine whether the vitamin D receptor single nucleotide polymorphism BsmI is associated with bone mineral density (BMD) in Spanish postmenopausal women. A total of 210 unrelated healthy postmenopausal women aged 60 ± 8 years were genotyped using TaqMan(®) SNP Genotyping Assays. Lumbar and femoral BMD were determined by dual-energy X-ray absorptiometry (DEXA). Daily calcium and vitamin D intake were determined by a food questionnaire. No differences were found in the femoral neck, trochanter, Ward's Triangle, L2, L3, L4, L2-L4, or between the femoral neck and total hip BMD after further adjustment for potential confounding factors (P > 0.05) (age, BMI, years since menopause and daily calcium intake). The BsmI polymorphism in the VDR gene was not associated with BMD in Spanish postmenopausal women.

| S-EPMC4493697 | biostudies-literature

Association between Vitamin D Receptor Gene BsmI Polymorphism and Bone Mineral Density in A Population of 146 Iranian Women.

Project description:OBJECTIVE:Osteoporosis is a bone disorder that reduces bone mineral density (BMD) and leads to bone fracture. In addition to different factors, gene polymorphisms have been revealed to be associated with osteoporosis. In this study, we investigated the association between the BsmI polymorphism of vitamin D receptor (VDR) gene (rs1544410) and BMD in a population of Iranian women. MATERIALS AND METHODS:In this case control study, clinical risk factors for osteoporosis were obtained from the participants through a questionnaire for a case-control study. The World Health Organisation (WHO) criteria were applied for the diagnosis of the disease. Peripheral blood samples were obtained from 146 pre- and or postmenopausal Iranian women aged between 35 and 71 years (53.53 ± 9.8). The study population was classified for BMD into normal and osteoporotic groups, who matched for age, pregnancy status, menstrual condition, and body mass index (BMI). The BMD of the lumbar spine (L1-4) and femoral neck was measured. Polymerase chain reactionrestriction fragment length polymorphism (PCR-RFLP) was performed to detect and analyze the genotype. RESULTS:The frequencies of AA and GG were significantly different between the two groups (p value<0.05), with the first genotype being higher in the patients and the second being higher in the normal group. The GG genotype was significantly associated with increased BMD in the lumbar spine (p value<0.05) but non-significant in the femoral neck (p value>0.05). CONCLUSION:BsmI polymorphism of VDR gene has a significant association with BMD in the lumbar spine and may have a minor effect on the proximal femur BMD in Iranian women.

| S-EPMC3660027 | biostudies-literature

ApaI, BsmI, FokI, and TaqI Polymorphisms in the Vitamin D Receptor Gene and Parkinson's Disease.

Project description:The vitamin D receptor (VDR) gene has been identified as a candidate gene for susceptibility to Parkinson's disease (PD), but results from genetic association studies to date are inconsistent. Here, we conducted a meta-analysis of published case-control studies to evaluate the association of the extensively studied VDR ApaI (G/T), BsmI (G/A), FokI (C/T), and TaqI (T/C) gene polymorphisms with risk of PD.Electronic search at PubMed, EMBASE, EBSCO, China National Knowledge Infrastructure, Weipu database, and Wanfang database was conducted to identify all relevant studies. Odds ratio (OR) with 95% confidence interval (CI) values was applied to evaluate the strength of the association.A total of seven studies with 2034 PD cases and 2432 controls were included in the meta-analysis following the inclusion and exclusion criteria. Overall, no significant association between ApaI, BsmI, and TaqI gene polymorphisms and PD susceptibility in all four genetic models was found (T vs. G: OR = 1.00, 95% CI: 0.89-1.12, P = 0.97; A vs. G: OR = 0.94, 95% CI: 0.77-1.15, P = 0.53; C vs. T: OR = 1.03, 95% CI: 0.85-1.25, P = 0.77) while a significant association between FokI (C/T) and PD risk was observed (C vs. T: OR = 1.41, 95% CI: 1.14-1.75, P = 0.001; CC vs. TT: OR = 2.45, 95% CI: 1.52-3.93, P = 0.0002; CT vs. TT: OR = 2.21, 95% CI: 1.38-3.52, P = 0.0009, CC vs. CT+TT: OR = 2.32, 95% CI: 1.49-3.61, P = 0.0002).Polymorphisms of ApaI, BsmI, and TaqI may not be associated with the susceptibility to PD while the FokI (C/T) polymorphism is possibly associated with increased PD risk. However, conclusions should be cautiously interpreted due to the relatively small number of studies included.

| S-EPMC4733724 | biostudies-literature

Vitamin D receptor polymorphisms (FokI, BsmI) and breast cancer risk: association replication in two case-control studies within French Canadian population.

Project description:Vitamin D has been associated with reduced breast cancer risk. We studied the association of two vitamin D receptor (VDR) gene single nucleotide polymorphisms restriction enzyme detecting SNP of VDR (FokI and BsmI) with breast cancer risk in two independent case-control studies carried out in the same population. The modifying effect of family history of breast cancer on this relationship was also evaluated. The first and second studies included respectively 718 (255 cases/463 controls) and 1596 (622 cases/974 controls) women recruited in Quebec City, Canada. FokI and BsmI genotypes were assessed. Relative risks of breast cancer were estimated by multivariate logistic regression. Compared with homozygotes for the common F allele (FF genotype), FokI ff homozygotes had a higher breast cancer risk (study 1: odds ratio (OR)=1.22, 95% confidence interval (CI)=0.76-1.95; study 2: OR=1.44, 95% CI=1.05-1.99; and combined studies: OR=1.33, 95% CI=1.03-1.73). Significant interactions were observed between FokI and family history of breast cancer in the two studies as well as in the combined analysis (P interaction=0.031, 0.050 and 0.0059 respectively). Among women without family history, odds ratios were 1.00, 1.27 (95% CI=1.02-1.58) and 1.57 (95% CI=1.18-2.10) respectively for FF, Ff and ff carriers (P(trend)=0.0013). BsmI Bb+bb genotypes were associated with a weak non-significant increased risk in the two studies (combined OR=1.22, 95% CI=0.95-1.57) without interaction with family history. Results support the idea that vitamin D, through its signalling pathway, can affect breast cancer risk. They also suggest that variability in observed associations between VDR FokI and breast cancer from different studies may partly be explained by the proportion of study subjects with a family history of breast cancer.

| S-EPMC2629179 | biostudies-literature

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