Abstract
Purpose :
Fuchs endothelial corneal dystrophy (FECD) is a common cause for cornea-related visual loss in the elderly, which is a multifactorial disorder and possesses a strong genetic predisposition. Several genes have been identified to be associated with FECD, while ethnic diversity in FECD single nucleotide polymorphisms associations exhibit. This study aim to investigate the Han Chinese-specific genetic variants for FECD development and progression.
Methods :
We have presented a genome-wide association study (GWAS) on 158 FECD cases and 316 controls of a Han Chinese population recruited from the Taiwan Precision Medicine Initiative (TPMI).
Results :
In this study, we have identified two single nucleotide polymorphisms significantly associated with FECD, including rs1050967 in the GYPC gene and rs11759540 in the PARK2 gene (p < 1 × 10−5).
Conclusions :
Results of this study indicate the genotypic heterogeneity of FECDs in different ethnic populations. We identified two new FECD risk loci and combining GWAS results with biological evidence to provide a deeper understanding of the underlying genetic and pathogenic basis of FECD.
This abstract was presented at the 2024 ARVO Annual Meeting, held in Seattle, WA, May 5-9, 2024.