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Nature:2型糖尿病的基因变异

摘要 : 80余个基因组位点的常见变异被认为与2型糖尿病易感性有关,但是它们只解释了一小部分的预估遗传性。

 80余个基因组位点的常见变异被认为与2型糖尿病易感性有关,但是它们只解释了一小部分的预估遗传性。一些研究假设,罕见或低频率的遗传变异可能在很大程度上解释其余风险。现在,本文作者为这一假设提供了一种检验方法,作为GoT2D和T2D-GENES项目的一部分,对2型糖尿病开展了大规模测序研究。他们的工作提供了迄今为止最为全面的糖尿病风险遗传结构分析,且能够检验罕见或低频率的遗传变异所扮演的角色。他们发现,研究确认的大多数遗传风险变异都是常见的,且出现在先前的全基因组关联分析所定位的区域。

原文链接:

The genetic architecture of type 2 diabetes

原文摘要:

The genetic architecture of common traits, including the number, frequency, and effect sizes of inherited variants that contribute to individual risk, has been long debated. Genome-wide association studies have identified scores of common variants associated with type 2 diabetes, but in aggregate, these explain only a fraction of the heritability of this disease. Here, to test the hypothesis that lower-frequency variants explain much of the remainder, the GoT2D and T2D-GENES consortia performed whole-genome sequencing in 2,657 European individuals with and without diabetes, and exome sequencing in 12,940 individuals from five ancestry groups. To increase statistical power, we expanded the sample size via genotyping and imputation in a further 111,548 subjects. Variants associated with type 2 diabetes after sequencing were overwhelmingly common and most fell within regions previously identified by genome-wide association studies. Comprehensive enumeration of sequence variation is necessary to identify functional alleles that provide important clues to disease pathophysiology, but large-scale sequencing does not support the idea that lower-frequency variants have a major role in predisposition to type 2 diabetes.

来源: Nature 浏览次数:1

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