Journal article
Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma
Jessica N Cooke Bailey, Stephanie J Loomis, Jae H Kang, R Rand Allingham, Puya Gharahkhani, Chiea Chuen Khor, Kathryn P Burdon, Hugues Aschard, Daniel I Chasman, Robert P Igo, Pirro G Hysi, Craig A Glastonbury, Allison Ashley-Koch, Murray Brilliant, Andrew A Brown, Donald L Budenz, Alfonso Buil, Ching-Yu Cheng, Hyon Choi, William G Christen Show all
NATURE GENETICS | NATURE PUBLISHING GROUP | Published : 2016
DOI: 10.1038/ng.3482
Abstract
Primary open-angle glaucoma (POAG) is a leading cause of blindness worldwide. To identify new susceptibility loci, we performed meta-analysis on genome-wide association study (GWAS) results from eight independent studies from the United States (3,853 cases and 33,480 controls) and investigated the most significantly associated SNPs in two Australian studies (1,252 cases and 2,592 controls), three European studies (875 cases and 4,107 controls) and a Singaporean Chinese study (1,037 cases and 2,543 controls). A meta-analysis of the top SNPs identified three new associated loci: rs35934224[T] in TXNRD2 (odds ratio (OR) = 0.78, P = 4.05 × 10(-11)) encoding a mitochondrial protein required for r..
View full abstractGrants
Awarded by US National Institutes of Health/National Eye Institute (NIH/NEI)
Awarded by UK Medical Research Council
Awarded by Cancer Research UK
Awarded by Biomedical Research Council (BMRC) grant in Singapore
Awarded by Singapore National Research Foundation
Awarded by National Health and Medical Research Council (NHMRC) of Australia
Awarded by Medical Research Council
Awarded by National Institute for Health Research
Awarded by Fight for Sight
Awarded by NATIONAL CANCER INSTITUTE
Awarded by NATIONAL CENTER FOR ADVANCING TRANSLATIONAL SCIENCES
Awarded by NATIONAL EYE INSTITUTE
Awarded by NATIONAL HUMAN GENOME RESEARCH INSTITUTE
Funding Acknowledgements
NEIGHBORHOOD data collection and analysis are supported by US National Institutes of Health/National Eye Institute (NIH/NEI) grant R01EY022305 (J.L.W.). Support for recruitment in ANZRAG (Australian and New Zealand Registry of Advanced Glaucoma) was provided by the Royal Australian and New Zealand College of Ophthalmology (RANZCO) Eye Foundation and by the National Health and Medical Research Council (NHMRC) of Australia (535074, 1031362, 1023911 and 1021105). EPIC-Norfolk infrastructure and core functions are supported by grants from the UK Medical Research Council (G1000143) and Cancer Research UK (C864/A14136). BMES (Blue Mountains Eye Study) was supported by the NHMRC, the Centre for Clinical Research Excellence in Translational Clinical Research in Eye Diseases, NHMRC Senior Research Fellowships and the Wellcome Trust, UK. Collection and genotyping for the South London Case-Control cohort (UK) were supported by a National Institute for Health Research (NIHR) Senior Research Fellowship (C.J.H.), and analysis was supported by a Fight for Sight Early Career Investigator Award (P.J.H.). The Singapore study (E.N.V., T.A. and C.C.K.) was supported by a Biomedical Research Council (BMRC) grant in Singapore, reference BMRC 10/1/35/19/675. This research was also partly supported by a grant (NMRC/TCR/008-SERI/2013) from the Singapore National Research Foundation under its Translational and Clinical Research Flagship Programme and administered by the Singapore Ministry of Health's National Medical Research Council. Additional acknowledgment and funding details are in the Supplementary Note.