East Asian–Specific Common Variant in TNNI3 Predisposes to Hypertrophic Cardiomyopathy

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 ).