Titin-Truncating variants Predispose to Dilated Cardiomyopathy in Diverse Populations.

ABSTRACT:

Importance

The effect of high percentage spliced in (hiPSI) TTN truncating variants (TTNtvs) on risk of dilated cardiomyopathy (DCM) has historically been studied among population subgroups defined by genetic similarity to European reference populations. This has raised questions about the effect of TTNtvs in diverse populations, especially among individuals genetically similar to African reference populations.

Objective

To determine the effect of TTNtvs on risk of DCM in diverse population as measured by genetic distance (GD) in principal component (PC) space.

Design

Cohort study.

Setting

Penn Medicine Biobank (PMBB) is a large, diverse biobank.

Participants

Participants were recruited from across the Penn Medicine healthcare system and volunteer

SUBMITTER: DePaolo J 

PROVIDER: S-EPMC10827233 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature