Prevalence of Transcription Factor 4 Gene Triplet Repeat Expansion Associated with Fuchs' Endothelial Corneal Dystrophy in the United States and Global Populations.

ABSTRACT:

Objective

An intronic cytosine-thymine-guanine (CTG) triplet repeat expansion in the transcription factor 4 gene (TCF4) gene (CTG18.1) confers significant risk for the development of Fuchs' endothelial corneal dystrophy (FECD). The objective of this study was to conduct an unbiased survey of the CTG18.1 repeat expansion allele frequencies in a multiethnic population-based cohort from the United States and in global populations.

Design

Cross-sectional study.

Subjects

Dallas Heart Study (DHS) cohort including 1599 African Americans (AAs), 1028 European Americans (EAs), and 458 Latinos; 2500 individuals from the 1000 Genomes Project (1KGP) sampled from 26 populations across 5 continents.

Methods

We genotyped the CTG18.1 short tandem repeat (STR) in DHS usin

SUBMITTER: Zhang X 

PROVIDER: S-EPMC11635774 | biostudies-literature | 2025 Jan-Feb

REPOSITORIES: biostudies-literature