Association of Transthyretin Val122Ile Variant With Incident Heart Failure Among Black Individuals.

ABSTRACT:

Importance

A genetic variant in the TTR gene (rs76992529; Val122Ile), present more commonly in individuals with African ancestry (population frequency: 3%-4%), causes misfolding of the tetrameric transthyretin protein complex that accumulates as extracellular amyloid fibrils and results in hereditary transthyretin amyloidosis.

Objective

To estimate the association of the amyloidogenic Val122Ile TTR variant with the risk of heart failure and mortality in a large, geographically diverse cohort of Black individuals.

Design, setting, and participants

Retrospective population-based cohort study of 7514 self-identified Black individuals living in the US participating in the REGARDS (Reasons for Geographic and Racial Differences in Stroke) study with genetic data available a

SUBMITTER: Parcha V 

PROVIDER: S-EPMC8981072 | biostudies-literature | 2022 Apr

REPOSITORIES: biostudies-literature