Rare variants in optic disc area gene CARD10 enriched in primary open-angle glaucoma.

ABSTRACT:

Background

Genome-wide association studies (GWAS) have identified association of common alleles with primary open-angle glaucoma (POAG) and its quantitative endophenotypes near numerous genes. This study aims to determine whether rare pathogenic variants in these disease-associated genes contribute to POAG.

Methods

Participants fulfilled strict inclusion criteria of advanced POAG at a young age of diagnosis. Myocilin mutation carriers were excluded using direct sequencing. Whole exome sequencing was performed on 187 glaucoma cases and 103 local screened nonglaucoma controls then joint-called with exomes of 993 previously sequenced Australian controls. GWAS-associated genes were assessed for enrichment of rare predicted pathogenic variants in POAG. Significantly enriched gene

SUBMITTER: Zhou T 

PROVIDER: S-EPMC5118207 | biostudies-literature | 2016 Nov

REPOSITORIES: biostudies-literature