Whole Exome Sequencing Study Uncovers Novel Candidate Genes and Protein-Coding Variants for Cataract.

ABSTRACT:

Purpose

To identify novel candidates for cataract and evaluate the contribution of protein-coding variants to cataract susceptibility.

Methods

We first leveraged a publicly-available browser, Genebass, to extract significant gene-based and single-variant association results for cataract in UK Biobank exomes (30,550 cataract cases and 364,291 controls). We then validated findings using genome-wide association study (GWAS) summary statistics from the Genetic Epidemiology Research in Adult Health and Aging (GERA) cohort (28,092 cataract cases and 50,487 controls). Finally, we examined the expression of the prioritized genes in lens tissue using the iSyTE database.

Results

Gene-based association testing identified four genes (KDM5B, COL2A1, MIP and CRYBB2) that were assoc

SUBMITTER: Chaar DL 

PROVIDER: S-EPMC12366868 | biostudies-literature | 2025 Aug

REPOSITORIES: biostudies-literature