East Asian–Specific Common Variant in <i>TNNI3</i> Predisposes to Hypertrophic Cardiomyopathy
Guixin Wu, Liwen Liu, Zhengyang Zhou, Jie Liu, Bo Wang, Jieyun Ruan, Qianli Yang, Mohammed Kanchwala, Penggao Dai, Channa Zhang, Dong Wang, Lianming Kang, Shuiyun Wang, Rutai Hui, Yubao Zou, Chao Xing, Lei Song, Jizheng Wang
Abstract
hypertrophy H ypertrophic cardiomyopathy (HCM) is the most common inherited cardiac disorder characterized by unexplained left ventricular hypertrophy. 1 Although considered as a dominant Mendelian disease mainly caused by rare pathogenic variants in sarcomere genes, the genetic underpinnings of nearly half of patients remain unsolved. 2 Increasing evidence implies that HCM has a more complex genetic architecture. 3 We identified an East Asian-specific common missense variant in TNNI3 (rs3729712) associated with HCM in an exome-wide case-control association study of Chinese origin and replicated the finding in 3 independent studies (P=5.8010 -2 ).