Ontology highlight
ABSTRACT:
SUBMITTER: Zhou T
PROVIDER: S-EPMC5118207 | biostudies-literature | 2016 Nov
REPOSITORIES: biostudies-literature
Zhou Tiger T Souzeau Emmanuelle E Sharma Shiwani S Siggs Owen M OM Goldberg Ivan I Healey Paul R PR Graham Stuart S Hewitt Alex W AW Mackey David A DA Casson Robert J RJ Landers John J Mills Richard R Ellis Jonathan J Leo Paul P Brown Matthew A MA MacGregor Stuart S Burdon Kathryn P KP Craig Jamie E JE
Molecular genetics & genomic medicine 20161003 6
<h4>Background</h4>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.<h4>Methods</h4>Participants fulfilled strict inclusion criteria of advanced POAG at a young age of diagnosis. Myocilin mutation carriers were excluded using direct sequencing. Whole e ...[more]