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

ConclusionWe report here an enrichment of rare predicted pathogenic coding variants within a GWAS‐associated locus in POAG (CARD10). These findings indicate that both common and rare pathogenic coding variants in CARD10 may contribute to POAG pathogenesis.

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 utilizes whole exome sequencing in a cohort of advanced POAG participants to examine the contribution of rare variants in those GWAS‐associated genes. We find that rare variants in the optic disc‐associated gene CARD10 were significantly enriched in POAG.

Source: Molecular Genetics & Genomic Medicine - August 31, 2016 Category: Genetics & Stem Cells Authors: Tiger Zhou, Emmanuelle Souzeau, Shiwani Sharma, Owen M. Siggs, Ivan Goldberg, Paul R. Healey, Stuart Graham, Alex W. Hewitt, David A. Mackey, Robert J. Casson, John Landers, Richard Mills, Jonathan Ellis, Paul Leo, Matthew A. Brown, Stuart MacGregor, Kath Tags: Original Article Source Type: research