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I型糖尿病遗传学联合会概述。

Overview of the Type I Diabetes Genetics Consortium.

机构信息

Center for Public Health Genomics, University of Virginia, Charlottesville, VA 22908, USA.

出版信息

Genes Immun. 2009 Dec;10 Suppl 1(Suppl 1):S1-4. doi: 10.1038/gene.2009.84.

Abstract

The Type I Diabetes Genetics Consortium (T1DGC) is an international, multicenter research program with two primary goals. The first goal is to identify genomic regions and candidate genes whose variants modify an individual's risk of type I diabetes (T1D) and help explain the clustering of the disease in families. The second goal is to make research data available to the research community and to establish resources that can be used by, and that are fully accessible to, the research community. To facilitate the access to these resources, the T1DGC has developed a Consortium Agreement (http://www.t1dgc.org) that specifies the rights and responsibilities of investigators who participate in Consortium activities. The T1DGC has assembled a resource of affected sib-pair families, parent-child trios, and case-control collections with banks of DNA, serum, plasma, and EBV-transformed cell lines. In addition, both candidate gene and genome-wide (linkage and association) studies have been performed and displayed in T1DBase (http://www.t1dbase.org) for all researchers to use in their own investigations. In this supplement, a subset of the T1DGC collection has been used to investigate earlier published candidate genes for T1D, to confirm the results from a genome-wide association scan for T1D, and to determine associations with candidate genes for other autoimmune diseases or with type II diabetes that may be involved with beta-cell function.

摘要

I 型糖尿病遗传学联合会(T1DGC)是一个国际性的多中心研究项目,有两个主要目标。第一个目标是确定基因组区域和候选基因,其变体可改变个体患 I 型糖尿病(T1D)的风险,并有助于解释该疾病在家族中的聚集。第二个目标是向研究界提供研究数据,并建立可由研究界使用且完全对其开放的资源。为了便于访问这些资源,T1DGC 制定了一份联合会协议(http://www.t1dgc.org),其中规定了参与联合会活动的研究人员的权利和责任。T1DGC 已经收集了受影响的同胞对家庭、父母-子女三对家庭和病例对照集,并储存了 DNA、血清、血浆和 EBV 转化细胞系。此外,已经进行了候选基因和全基因组(连锁和关联)研究,并在 T1DBase(http://www.t1dbase.org)中显示,以供所有研究人员在自己的研究中使用。在本增刊中,使用了 T1DGC 收集的一部分来研究先前发表的 T1D 候选基因,以确认 T1D 的全基因组关联扫描结果,并确定与其他自身免疫性疾病或可能与β细胞功能相关的 II 型糖尿病的候选基因的关联。

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