Genetic Studies of Hypertrophic Cardiomyopathy in Singaporeans Identify Variants in <i>TNNI3</i> and <i>TNNT2</i> That Are Common in Chinese Patients.

ABSTRACT:

Background

To assess the genetic architecture of hypertrophic cardiomyopathy (HCM) in patients of predominantly Chinese ancestry.

Methods

We sequenced HCM disease genes in Singaporean patients (n=224) and Singaporean controls (n=3634), compared findings with additional populations and White HCM cohorts (n=6179), and performed in vitro functional studies.

Results

Singaporean HCM patients had significantly fewer confidently interpreted HCM disease variants (pathogenic/likely pathogenic: 18%, P<0.0001) but an excess of variants of uncertain significance (24%, P<0.0001), as compared to Whites (pathogenic/likely pathogenic: 31%, excess of variants of uncertain significance: 7%). Two missense variants in thin filament encoding genes were commonly seen in Singa

SUBMITTER: Pua CJ 

PROVIDER: S-EPMC7676617 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature