Identification and clinical application of susceptibility genes for diabetes mellitus.

通过使用100,000个snp的全基因组关联研究（GWAS），我们确定了KCNQ1是2型糖尿病的一个新的易感基因，并进行了功能分析。这被证明是多种族群体中最重要的遗传因素之一。我们还检查了糖尿病的其他遗传因素，发现snp的风险等位基因频率在人群中是可变的。此外，我们报道了所有易感性snp组合的预测能力不足，表明存在未知的遗传因素。我们还通过候选基因和候选区域方法报道了新的糖尿病相关基因。

By a genome-wide association study (GWAS) using 100,000 SNPs, we identified KCNQ1 as a novel susceptibility gene for type 2 diabetes mellitus, and performed functional analysis. This turned out to be one of the most important genetic factors in multiple ethnic groups. We also examined other genetic factors for diabetes and found that risk allele frequencies of the SNPs are variable among populations. Furthermore, we reported that the prediction power of all the susceptibility SNPs combined is not sufficient, indicating the existence of unknown genetic factors. We also reported novel diabetes-related genes by candidate gene and candidate region approaches.