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Type: Journal article
Title: Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma
Author: Gharahkhani, P.
Burdon, K.
Fogarty, R.
Sharma, S.
Hewitt, A.
Martin, S.
Law, M.
Cremin, K.
Bailey, J.
Loomis, S.
Pasquale, L.
Haines, J.
Hauser, M.
Viswanathan, A.
McGuffin, P.
Topouzis, F.
Foster, P.
Graham, S.
Casson, R.
Chehade, M.
et al.
Citation: Nature Genetics, 2014; 46(10):1120-1125
Publisher: Nature Publishing Group
Issue Date: 2014
ISSN: 1546-1718
Statement of
Puya Gharahkhani ... Shiwani Sharma ... Robert J Casson, Mark Chehade ... Wellcome Trust Case Control Consortium, NEIGHBORHOOD Consortium ...
Abstract: Primary open-angle glaucoma (POAG) is a major cause of irreversible blindness worldwide. We performed a genome-wide association study in an Australian discovery cohort comprising 1,155 cases with advanced POAG and 1,992 controls. We investigated the association of the top SNPs from the discovery stage in two Australian replication cohorts (932 cases and 6,862 controls total) and two US replication cohorts (2,616 cases and 2,634 controls total). Meta-analysis of all cohorts identified three loci newly associated with development of POAG. These loci are located upstream of ABCA1 (rs2472493[G], odds ratio (OR) = 1.31, P = 2.1 × 10(-19)), within AFAP1 (rs4619890[G], OR = 1.20, P = 7.0 × 10(-10)) and within GMDS (rs11969985[G], OR = 1.31, P = 7.7 × 10(-10)). Using RT-PCR and immunolabeling, we show that these genes are expressed within human retina, optic nerve and trabecular meshwork and that ABCA1 and AFAP1 are also expressed in retinal ganglion cells.
Keywords: Wellcome Trust Case Control Consortium 2, NEIGHBORHOOD consortium
Glaucoma, Open-Angle
Genetic Predisposition to Disease
Microfilament Proteins
Risk Factors
Cohort Studies
Reverse Transcriptase Polymerase Chain Reaction
Gene Expression
Gene Frequency
Polymorphism, Single Nucleotide
Aged, 80 and over
Middle Aged
United States
Meta-Analysis as Topic
ATP Binding Cassette Transporter 1
Rights: © 2014 Nature America, Inc. All rights reserved
DOI: 10.1038/ng.3079
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