Prevalence, Cardiac Phenotype, and Outcomes of Transthyretin Variants in the UK Biobank Population.

ABSTRACT:

Importance

The population prevalence of cardiac transthyretin amyloidosis (ATTR) caused by pathogenic variation in the TTR gene (vATTR) is unknown.

Objective

To estimate the population prevalence of disease-causing TTR variants and evaluate associated phenotypes and outcomes.

Design, setting, and participants

This population-based cohort study analyzed UK Biobank (UKB) participants with whole-exome sequencing, electrocardiogram, and cardiovascular magnetic resonance data. Participants were enrolled from 2006 to 2010, with a median follow-up of 12 (IQR, 11-13) years (cutoff date for the analysis, March 12, 2024). Sixty-two candidate TTR variants were extracted based on rarity (minor allele frequency ≤0.0001) and/or previously described associations with amyloidosis if

SUBMITTER: Aung N 

PROVIDER: S-EPMC11359106 | biostudies-literature | 2024 Nov

REPOSITORIES: biostudies-literature