Monogenic and Polygenic Contributions to QTc Prolongation in the Population.

ABSTRACT:

Background

Rare sequence variation in genes underlying cardiac repolarization and common polygenic variation influence QT interval duration. However, current clinical genetic testing of individuals with unexplained QT prolongation is restricted to examination of monogenic rare variants. The recent emergence of large-scale biorepositories with sequence data enables examination of the joint contribution of rare and common variations to the QT interval in the population.

Methods

We performed a genome-wide association study of the QTc in 84 630 UK Biobank participants and created a polygenic risk score (PRS). Among 26 976 participants with whole-genome sequencing and ECG data in the TOPMed (Trans-Omics for Precision Medicine) program, we identified 160 carriers of putative patho

SUBMITTER: Nauffal V 

PROVIDER: S-EPMC9117504 | biostudies-literature | 2022 May

REPOSITORIES: biostudies-literature