1654 个 1 型糖尿病家系的维生素 D 受体基因关联分析。
Association analyses of the vitamin D receptor gene in 1654 families with type I diabetes.
机构信息
Division of Endocrinology, Diabetes and Metabolism, Department of Internal Medicine I, University Hospital Frankfurt, Theodor-Stern-Kai 7, Frankfurt am Main, Germany.
出版信息
Genes Immun. 2009 Dec;10 Suppl 1(Suppl 1):S60-3. doi: 10.1038/gene.2009.93.
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.
摘要
1 型糖尿病（T1D）是由环境暴露和遗传易感性相互作用引起的，导致免疫功能障碍和胰腺产生胰岛素的β细胞破坏。维生素 D 缺乏可能是影响 T1D 发展和诊断的众多环境因素之一，因此，研究人员检查了维生素 D 受体（VDR）基因与 T1D 风险的关联。1 型糖尿病遗传学联合会对 1654 个 T1D 核心家庭（6707 个人，3399 个患病个体）中的 38 个单核苷酸多态性（SNP）进行了基因分型。使用 Illumina（ILMN）和 Sequenom（SQN）技术对 38 个 SNP 的基因型进行了分配。截至 2008 年 7 月的数据发布分析报告了这两种平台的结果。在整个样本集中，以及在按亲源性、后代性别和 HLA 风险分层后进行多重检验校正时，均未发现 VDR SNP 与 T1D 之间存在关联（P<0.01）。
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