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Association analyses of the vitamin D receptor gene in 1654 families with type I diabetes.

ABSTRACT: Type I diabetes (T1D) results from interactions between environmental exposures and genetic susceptibility leading to immune dysfunction and destruction of the insulin-producing beta cells of the pancreas. Vitamin D deficiency is likely to be one of the many environmental factors influencing T1D development and diagnosis, and, hence, the hormone receptor gene, VDR, was examined for association with T1D risk. The Type I Diabetes Genetics Consortium genotyped 38 single nucleotide polymorphisms (SNPs) in 1654 T1D nuclear families (6707 individuals, 3399 affected). Genotypes for 38 SNPs were assigned using the Illumina (ILMN) and Sequenom (SQN) technology. The analysis of data release as of July 2008 is reported for both platforms. No evidence of association of VDR SNPs with T1D at P<0.01 was obtained in the overall sample set, nor in subgroups analyses of the parent-of-origin, sex of offspring and HLA risk once adjusted for multiple testing.

SUBMITTER: Kahles H

PROVIDER: S-EPMC2805827 | biostudies-literature | 2009 Dec

REPOSITORIES: biostudies-literature

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Association analyses of the vitamin D receptor gene in 1654 families with type I diabetes.

Kahles H H Morahan G G Todd J A JA Badenhoop K K

Genes and immunity 20091201

Type I diabetes (T1D) results from interactions between environmental exposures and genetic susceptibility leading to immune dysfunction and destruction of the insulin-producing beta cells of the pancreas. Vitamin D deficiency is likely to be one of the many environmental factors influencing T1D development and diagnosis, and, hence, the hormone receptor gene, VDR, was examined for association with T1D risk. The Type I Diabetes Genetics Consortium genotyped 38 single nucleotide polymorphisms (SN ...[more]

PMID: 19956103

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

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Association of vitamin D levels and polymorphisms in vitamin D receptor with type 2 diabetes mellitus.

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Impact of vitamin D receptor gene polymorphisms in pathogenesis of Type-1 diabetes mellitus.

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The association between vitamin D receptor gene polymorphisms (TaqI and FokI), Type 2 diabetes, and micro-/macrovascular complications in postmenopausal women.

Project description:IntroductionSince there is evidence of the action of vitamin D as a modulator of insulin release and atherosclerosis, it may well be that the vitamin D receptor polymorphisms are associated with diabetes and its chronic complications.AimsTo examine the associations between vitamin D receptor polymorphisms (FokI and TaqI) and Type 2 diabetes (T2DM) and its associated chronic complications in postmenopausal women.MethodsThis cross-sectional study analyzed 100 postmenopausal women with T2DM (mean age 65.7±7.18 years) and 100 postmenopausal women without diabetes in the control group (mean age 65.1±9.18 years; P=0.1608). We evaluated clinical and metabolic parameters and analyzed TaqI and FokI polymorphisms.ResultsThere were no significant differences in genotype and allele frequencies between patients and controls in either of the polymorphisms studied. In the group of patients with diabetes, there were no significant differences in either polymorphism in relation to stroke, retinopathy, nephropathy, or neuropathy. However, in patients with T2DM and coronary artery disease, f genotype (P=0.0361) and the combination of Ff + ff genotypes were observed less frequently (P=0.0462).ConclusionThis study suggests the potential protective factor of FokI polymorphism for coronary artery disease in postmenopausal women with T2DM in the recessive model.

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Maternal transmission disequilibrium of rs2248359 in type 2 diabetes mellitus families and its association with vitamin D level in offspring.

Project description:Association between T2DM and vitamin D deficiency has been reported in many epidemiologic studies. 24-hydroxylase encoded by CYP24A1 is the enzyme that degrades the active vitamin D metabolite. Variation in CYP24A1 may be associated with T2DM. This study investigates the association between rs2248359 in CYP24A1 and T2DM by a family-based association test (FBAT) and in a case-control study. The FBAT results revealed that there was transmission disequilibrium for allele T in both additive model (Z = 2.041, P = 0.041227) and dominant model (Z = 2.722, P = 0.006496). Results of the case-control study suggested that rs2248359 may be a risk factor for female T2DM (P = 0.036) but not for male T2DM (P = 0.816). Furthermore, excessive transmission of allele T in T2DM offspring was observed compared with the non-T2DM offspring (OR 1.392; 95%CI 1.024-1.894; P = 0.035). In addition, combination of maternal CT and paternal CC genotypes had significant synergistic effect on obtaining CT genotype for offspring with T2DM (OR 6.245; 95%CI 1.868-20.883; P = 0.004). Besides, lower level of 25(OH)D in T2DM offspring with genotype CT was observed as compared with the non-T2DM offspring (P = 0.013). These data suggest that maternal transmission disequilibrium of allele T may be a risk factor for T2DM and vitamin D deficiency in T2DM offspring.

| S-EPMC5778029 | biostudies-literature

Association of vitamin D receptor polymorphisms and type 1 diabetes susceptibility in children: a meta-analysis.

Project description:BackgroundThere have been studies focused on FokI, BsmI, ApaI and TaqI polymorphisms of the vitamin D receptor (VDR) gene and susceptibility to type 1 diabetes mellitus with controversial results.MethodsThis present study is a meta-analysis investigating the association between FokI, ApaI, TaqI and BsmI polymorphisms of VDR gene and type 1 DM in children. A literature search was performed using Medline, EMBASE, Cochrane and PubMed. Any study was considered eligible for inclusion if at least one of FokI, ApaI, TaqI and BsmI polymorphisms was determined, and outcome was type 1 DM at pediatric age.ResultsA total of 9 studies comprising 1053 patients and 1017 controls met the study inclusion criteria. The pooled odds ratios (ORs) of the FokI, ApaI, TaqI and BsmI polymorphisms were combined and calculated. Forest plots and funnel plots of the OR value distributions were drawn. Our meta-analysis has demonstrated statistically significant associations between DM1 and VDR genotypes, BsmIBB (P < 0.05), BsmIBb, (P < 0.05), BsmIbb (P < 0.05), TaqITT (P < 0.05) and TaqItt (P < 0.05) in children.ConclusionThe results indicated that BsmIBB, BsmIBb and TaqItt polymorphisms were associated with an increased risk of type 1 DM, whereas BsmIbb and TaqITT had protective effect for type 1 DM in children.

| S-EPMC5424779 | biostudies-literature

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