Burden of Rare Sarcomere Gene Variants in the Framingham and Jackson Heart Study Cohorts

摘要: Rare sarcomere protein variants cause dominant hypertrophic and dilated cardiomyopathies. To evaluate whether allelic in eight genes are associated with cardiac morphology function the community, we sequenced 3,600 individuals from Framingham Heart Study (FHS) Jackson (JHS) cohorts. Out of total, 11.2% had one or more rare nonsynonymous variants. The prevalence likely pathogenic was 0.6%, twice previous estimates; however, only four 22 clinical manifestations cardiomyopathy. were an increased risk for adverse cardiovascular events (hazard ratio: 2.3) FHS cohort, suggesting that assessment general population can benefit variant analysis.