A genome-wide association study for primary open angle glaucoma and macular degeneration reveals novel Loci

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

doi:10.1371/journal.pone.0058657

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A genome-wide association study for primary open angle glaucoma and macular degeneration reveals novel Loci

Journal article

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A genome-wide association study for primary open angle glaucoma and macular degeneration reveals novel Loci

Todd E Scheetz, John H Fingert, Kai Wang, Markus H Kuehn, Kevin L Knudtson, Wallace L M Alward, H Culver Boldt, Stephen R Russell, James C Folk, Thomas L Casavant, …

PloS one, Vol.8(3), pp.e58657-e58657

2013

DOI: 10.1371/journal.pone.0058657

PMCID: PMC3594156

PMID: 23536807

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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.

Amino Acid Sequence

Genetic Predisposition to Disease

Genome-Wide Association Study

Complement C7 - chemistry

Quantitative Trait, Heritable

Glaucoma, Open-Angle - genetics

Humans

Middle Aged

Molecular Sequence Data

Genotype

Glaucoma, Open-Angle - pathology

Male

Sequence Alignment

Macular Degeneration - genetics

Alleles

Female

Aged

Cornea - pathology

Polymorphism, Single Nucleotide

Complement C7 - genetics

Quantitative Trait Loci

Macular Degeneration - pathology

Details

Title: Subtitle: A genome-wide association study for primary open angle glaucoma and macular degeneration reveals novel Loci
Creators: Todd E Scheetz - Department of Ophthalmology and Visual Sciences, The University of Iowa, Iowa City, Iowa, United States of America
John H Fingert
Kai Wang
Markus H Kuehn
Kevin L Knudtson
Wallace L M Alward
H Culver Boldt
Stephen R Russell
James C Folk
Thomas L Casavant
Terry A Braun
Abbot F Clark
Edwin M Stone
Val C Sheffield
Resource Type: Journal article
Publication Details: PloS one, Vol.8(3), pp.e58657-e58657
DOI: 10.1371/journal.pone.0058657
PMID: 23536807
PMCID: PMC3594156
NLM abbreviation: PLoS One
ISSN: 1932-6203
eISSN: 1932-6203
Publisher: United States
Grant note: R01 EY019485 / NEI NIH HHS R01 EY016822 / NEI NIH HHS R01-EY-010564 / NEI NIH HHS R01 EY018825 / NEI NIH HHS R01-EY-016822 / NEI NIH HHS R01-EY-018825 / NEI NIH HHS R01 EY024259 / NEI NIH HHS R01 EY022044 / NEI NIH HHS
Language: English
Date published: 2013
Academic Unit: Roy J. Carver Department of Biomedical Engineering; Electrical and Computer Engineering; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Biostatistics; Medical Genetics and Genomics; Ophthalmology and Visual Sciences; Iowa Institute of Human Genetics
Record Identifier: 9983979967602771

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