全基因组关联研究和荟萃分析发现，40 多个位点影响 1 型糖尿病的风险。
Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.
机构信息
Juvenile Diabetes Research Foundation/Wellcome Trust Diabetes and Inflammation Laboratory, Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Addenbrooke's Hospital, Cambridge, UK.
出版信息
Nat Genet. 2009 Jun;41(6):703-7. doi: 10.1038/ng.381. Epub 2009 May 10.
Type 1 diabetes (T1D) is a common autoimmune disorder that arises from the action of multiple genetic and environmental risk factors. We report the findings of a genome-wide association study of T1D, combined in a meta-analysis with two previously published studies. The total sample set included 7,514 cases and 9,045 reference samples. Forty-one distinct genomic locations provided evidence for association with T1D in the meta-analysis (P < 10(-6)). After excluding previously reported associations, we further tested 27 regions in an independent set of 4,267 cases, 4,463 controls and 2,319 affected sib-pair (ASP) families. Of these, 18 regions were replicated (P < 0.01; overall P < 5 × 10(-8)) and 4 additional regions provided nominal evidence of replication (P < 0.05). The many new candidate genes suggested by these results include IL10, IL19, IL20, GLIS3, CD69 and IL27.
1 型糖尿病（T1D）是一种常见的自身免疫性疾病，由多种遗传和环境风险因素共同作用引起。我们报告了一项 T1D 的全基因组关联研究结果，该研究与之前发表的两项研究进行了荟萃分析。总样本集包括 7514 例病例和 9045 例对照样本。荟萃分析中，有 41 个不同的基因组位置提供了与 T1D 相关的证据（P < 10(-6)）。在排除了先前报道的关联后，我们在独立的 4267 例病例、4463 例对照和 2319 对患病同胞（ASP）家族的样本中进一步测试了 27 个区域。其中，18 个区域得到了复制（P < 0.01；总体 P < 5 × 10(-8)），另外 4 个区域提供了名义上的复制证据（P < 0.05）。这些结果提示了许多新的候选基因，包括 IL10、IL19、IL20、GLIS3、CD69 和 IL27。
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