title: A genome-wide association study for primary open angle glaucoma and macular degeneration reveals novel Loci.
abstract: 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.
authors.affiliation: Department of Ophthalmology and Visual Sciences, The University of Iowa, Iowa City, Iowa, United States of America.
authors.forename: Todd E
authors.initials: TE
authors.lastname: Scheetz
authors.forename: John H
authors.initials: JH
authors.lastname: Fingert
authors.forename: Kai
authors.initials: K
authors.lastname: Wang
authors.forename: Markus H
authors.initials: MH
authors.lastname: Kuehn
authors.forename: Kevin L
authors.initials: KL
authors.lastname: Knudtson
authors.forename: Wallace L M
authors.initials: WL
authors.lastname: Alward
authors.forename: H Culver
authors.initials: HC
authors.lastname: Boldt
authors.forename: Stephen R
authors.initials: SR
authors.lastname: Russell
authors.forename: James C
authors.initials: JC
authors.lastname: Folk
authors.forename: Thomas L
authors.initials: TL
authors.lastname: Casavant
authors.forename: Terry A
authors.initials: TA
authors.lastname: Braun
authors.forename: Abbot F
authors.initials: AF
authors.lastname: Clark
authors.forename: Edwin M
authors.initials: EM
authors.lastname: Stone
authors.forename: Val C
authors.initials: VC
authors.lastname: Sheffield
mesh_terms: D000368:Aged; D000483:Alleles; D000595:Amino Acid Sequence; D003184:Complement C7 / Q000737:chemistry / Q000235:genetics; D003315:Cornea / Q000473:pathology; D005260:Female; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D005838:Genotype; D005902:Glaucoma, Open-Angle / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008268:Macular Degeneration / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D020641:Polymorphism, Single Nucleotide; D040641:Quantitative Trait Loci; D019655:Quantitative Trait, Heritable; D016415:Sequence Alignment
chemical_list: D003184:Complement C7
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