Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/97001
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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
1546-1718
Statement of
Responsibility: 
Puya Gharahkhani ... Shiwani Sharma ... Robert J Casson, Mark Chehade ... Wellcome Trust Case Control Consortium, NEIGHBORHOOD Consortium ... et.al.
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; Humans; Glaucoma, Open-Angle; Genetic Predisposition to Disease; Microfilament Proteins; Hydro-Lyases; Immunoblotting; Risk Factors; Cohort Studies; Reverse Transcriptase Polymerase Chain Reaction; Gene Expression; Gene Frequency; Genotype; Polymorphism, Single Nucleotide; Aged; Aged, 80 and over; Middle Aged; United States; Australia; Female; Male; Meta-Analysis as Topic; ATP Binding Cassette Transporter 1
Rights: © 2014 Nature America, Inc. All rights reserved
RMID: 0030015251
DOI: 10.1038/ng.3079
Grant ID: http://purl.org/au-research/grants/nhmrc/1031362
http://purl.org/au-research/grants/nhmrc/1037838
http://purl.org/au-research/grants/nhmrc/1048037
http://purl.org/au-research/grants/nhmrc/1009844
http://purl.org/au-research/grants/nhmrc/1031920
http://purl.org/au-research/grants/nhmrc/552429
http://purl.org/au-research/grants/nhmrc/241944
http://purl.org/au-research/grants/nhmrc/339462
http://purl.org/au-research/grants/nhmrc/389927
http://purl.org/au-research/grants/nhmrc/389875
http://purl.org/au-research/grants/nhmrc/389891
http://purl.org/au-research/grants/nhmrc/389892
http://purl.org/au-research/grants/nhmrc/389938
http://purl.org/au-research/grants/nhmrc/443036
http://purl.org/au-research/grants/nhmrc/442915
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http://purl.org/au-research/grants/nhmrc/496610
http://purl.org/au-research/grants/nhmrc/496739
http://purl.org/au-research/grants/nhmrc/552485
http://purl.org/au-research/grants/nhmrc/552498
http://purl.org/au-research/grants/nhmrc/974159
http://purl.org/au-research/grants/nhmrc/211069
http://purl.org/au-research/grants/nhmrc/457349
http://purl.org/au-research/grants/nhmrc/512423
http://purl.org/au-research/grants/nhmrc/475604
http://purl.org/au-research/grants/nhmrc/529912
http://purl.org/au-research/grants/nhmrc/358702
http://purl.org/au-research/grants/nhmrc/632909
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