Exome-chip association analysis reveals an Asian-specific missense variant in ss="a-plus-plus">PAX4 associated with type 2 diabetes in Chinese individuals

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• 作者：Chloe Y. Y. Cheung ; Clara S. Tang ; Aimin Xu ; Chi-Ho Lee ; Ka-Wing Au ; Lin Xu…
• 关键词：Asian ; specific ; Exome ; chip association analysis ; PAX4 ; Type 2 diabetes
• 刊名：Diabetologia
• 出版年：2017
• 出版时间：January 2017
• 年：2017
• 卷：60
• 期：1
• 页码：107-115
• 全文大小：458KB
• 刊物类别：Medicine
• 刊物主题：Internal Medicine; Metabolic Diseases; Human Physiology;
• 出版者：Springer Berlin Heidelberg
• ISSN：1432-0428
• 卷排序：60

文摘

Aims/hypothesisGenome-wide association studies (GWASs) have identified many common type 2 diabetes-associated variants, mostly at the intronic or intergenic regions. Recent advancements of exome-array genotyping platforms have opened up a novel means for detecting the associations of low-frequency or rare coding variants with type 2 diabetes. We conducted an exomechip association analysis to identify additional type 2 diabetes susceptibility variants in the Chinese population.