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Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma


Bailey, JN and Loomis, SJ and Kang, JH and Allingham, RR and Gharahkhani, P and Khor, CC and Burdon, KP and Aschard, H and Chasman, DI and Igo, RP and Hysi, PG and Glastonbury, CA and Ashley-Koch, A and Brilliant, M and Brown, AA and Budenz, DL and Buil, A and Cheng, CY and Choi, H and Christen, WG and Curhan, G and De Vivo, I and Fingert, JH and Foster, PJ and Fuchs, C and Gaasterland, D and Gaasterland, T and Hewitt, AW and Hu, F and Hunter, DJ and Khawaja, AP and Lee, RK and Li, Z and Lichter, PR and Mackey, DA and McGuffin, P and Mitchell, P and Moroi, SE and Perera, SA and Pepper, KW and Qi, Q and Realini, T and Richards, JE and Ridker, PM and Rimm, E and Ritch, R and Ritchie, M and Schuman, JS and Scott, WK and Singh, K and Sit, AJ and Song, YE and Tamimi, RM and Topouzis, F and Viswanathan, AC and Verma, SS and Vollrath, D and Wang, JJ and Weisschuh, N and Wissinger, B and Wollstein, G and Wong, TY and Yaspan, BL and Zack, DJ and Zhang, K and Weinreb, RN and Pericak-Vance, MA and Small, K and Hammond, CJ and Aung, T and Liu, Y and Vithana, EN and MacGregor, S and Craig, JE and Kraft, P and Howell, G and Hauser, MA and Pasquale, LR and Haines, JL and Wiggs, JL, EPIC-Norfolk Eye Study, ANZRAG Consortium, Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma, Nature Genetics, 48, (2) pp. 189-194. ISSN 1061-4036 (2016) [Refereed Article]

Copyright Statement

2016 Nature America

DOI: doi:10.1038/ng.3482


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 redox homeostasis; rs7137828[T] in ATXN2 (OR = 1.17, P = 8.73 10-10); and rs2745572[A] upstream of FOXC1 (OR = 1.17, P = 1.76 10-10). Using RT-PCR and immunohistochemistry, we show TXNRD2 and ATXN2 expression in retinal ganglion cells and the optic nerve head. These results identify new pathways underlying POAG susceptibility and suggest new targets for preventative therapies.

Item Details

Item Type:Refereed Article
Research Division:Biomedical and Clinical Sciences
Research Group:Ophthalmology and optometry
Research Field:Ophthalmology
Objective Division:Health
Objective Group:Clinical health
Objective Field:Clinical health not elsewhere classified
UTAS Author:Burdon, KP (Professor Kathryn Burdon)
UTAS Author:Hewitt, AW (Professor Alex Hewitt)
UTAS Author:Mackey, DA (Professor David Mackey)
ID Code:107030
Year Published:2016
Web of Science® Times Cited:144
Deposited By:Menzies Institute for Medical Research
Deposited On:2016-03-02
Last Modified:2022-08-25

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