Key result
An East Asian-specific common missense variant in TNNI3 (rs3729712) was associated with hypertrophic cardiomyopathy in a case-control study of Chinese origin (P=5.8010 -2).
Why the study?
The genetic underpinnings of nearly half of HCM patients remain unsolved, with increasing evidence suggesting a more complex genetic architecture beyond rare Mendelian sarcomere variants.
Is the East Asian-specific common missense variant in TNNI3 (rs3729712) associated with hypertrophic cardiomyopathy in individuals of Chinese origin?
Case-Control
Yes
Is the East Asian-specific common missense variant in TNNI3 (rs3729712) associated with hypertrophic cardiomyopathy in individuals of Chinese origin?
p-value: p=5.8010 -2
Identifies a novel East Asian-specific common variant in TNNI3 that predisposes to hypertrophic cardiomyopathy, expanding the complex genetic architecture of the disease.
Hypothesis-generating for East Asian HCM; does not support clinical testing or risk stratification without replication.
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 ).
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Wu et al. (2020) conducted a case-control in Hypertrophic cardiomyopathy. TNNI3 (rs3729712) missense variant was evaluated on Hypertrophic cardiomyopathy (p=5.8010 -2). An East Asian-specific common missense variant in TNNI3 (rs3729712) was associated with hypertrophic cardiomyopathy in a case-control study of Chinese origin (P=5.8010 -2).
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