A Genome-Wide Association Study for Primary Open Angle Glaucoma and Macular Degeneration Reveals Novel Loci

作者：Scheetz Todd E; Fingert John H; Wang Kai; Kuehn Markus H; Knudtson Kevin L; Alward Wallace L M; Boldt H Culver; Russell Stephen R; Folk James C; Casavant Thomas L; Braun Terry A; Clark Abbot F; Stone Edwin M; Sheffield Val C^*

来源：PLos One, 2013, 8(3): e58657.

DOI：10.1371/journal.pone.0058657

Glaucoma and age-related macular degeneration (AMD) are the two leading causes of visual loss in the United States. We utilized a novel study design to perform a genome-wide association for both primary open angle glaucoma (POAG) and AMD. This study design utilized a two-stage process for hypothesis generation and validation, in which each disease cohort was utilized as a control for the other. A total of 400 POAG patients and 400 AMD patients were ascertained and genotyped at 500,000 loci. This study identified a novel association of complement component 7 (C7) to POAG. Additionally, an association of central corneal thickness, a known risk factor for POAG, was found to be associated with ribophorin II (RPN2). Linked monogenic loci for POAG and AMD were also evaluated for evidence of association, none of which were found to be significantly associated. However, several yielded putative associations requiring validation. Our data suggest that POAG is more genetically complex than AMD, with no common risk alleles of large effect.

• 出版日期2013-3-11
• 单位上海生物信息技术研究中心