Prevalence and Phenotype of Transthyretin Val122Ile Variant in the Hispanic Community Health Study/Study of Latinos.

ABSTRACT:

Background

Hereditary transthyretin amyloid cardiomyopathy is commonly caused by the Val122Ile variant, a mutation found in non-Hispanic individuals of West African descent but understudied among the Hispanic/Latino (H/L) population, despite their admixed genetic ancestry (African ancestry [AA], European ancestry [EA], and Amerindian ancestry) and heterogeneous AA proportions within disaggregated backgrounds.

Objectives

This study aimed to determine Val122Ile variant prevalence among community-dwelling H/L adults and disaggregated background groups; to evaluate associations with genetic continental ancestry; and to characterize echocardiographic phenotype.

Methods

We analyzed cross-sectional data from 12,687 H/L adults (aged 18-74) in the Hispanic Community Health Stu

SUBMITTER: Duran-Luciano P 

PROVIDER: S-EPMC12318275 | biostudies-literature | 2025 Aug

REPOSITORIES: biostudies-literature