Recently, we conducted genome-wide association studies of type 2 diabetes (T2D) in a Japanese population, which identified 20 novel T2D loci that were not associated with T2D in Europeans. Moreover, nine novel missense risk variants, such as those of PAX4, were not rare in the Japanese population, but rare in Europeans. We report in silico structural analysis of ethnic-specific variants of PAX4, which suggests the pathogenic effect of these variants.

中文翻译：

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与 2 型糖尿病相关的 PAX4 种族特异性变体的结构基础

最近，我们在日本人群中进行了 2 型糖尿病 (T2D) 的全基因组关联研究，发现了 20 个与欧洲人 T2D 无关的新 T2D 基因座。此外，九个新的错义风险变体，例如PAX4 的那些，在日本人群中并不罕见，但在欧洲人中却很少见。我们报告了PAX4种族特异性变体的计算机结构分析，这表明了这些变体的致病作用。