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.

Authors Zhou, Tiger; Souzeau, Emmanuelle; Sharma, Shiwani; Siggs, Owen M.; Goldberg, Ivan; Healey, Paul R.; Graham, Stuart; Hewitt, Alex W.; Mackey, David A.; Casson, Robert J.; Landers, John; Mills, Richard; Ellis, Jonathan; Leo, Paul; Brown, Matthew A.; Macgregor, Stuart; Burdon, Kathryn P.; Craig, Jamie E.
Journal MOLECULAR GENETICS AND GENOMICS
Pages 624-633
Volume 4
Date 1/11/2016
Grant ID
Funding Body Lions Medical Research Foundation Scholarship in Medicine
URL http://www.ncbi.nlm.nih.gov/pubmed/?term=10.1002/mgg3.248