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

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Cooke Bailey, Jessica N.
Loomis, Stephanie J.
Allingham, R. Rand
Gharahkhani, Puya
Khor, Chiea Chuen
Burdon, Kathryn P.
Igo, Robert P.
Hysi, Pirro G.
Glastonbury, Craig A.
Ashley-Koch, Allison
Brilliant, Murray
Brown, Andrew A.
Budenz, Donald L.
Buil, Alfonso
Cheng, Ching-Yu
Choi, Hyon
Fingert, John H.
Foster, Paul J.
Gaasterland, Douglas
Gaasterland, Terry
Hewitt, Alex W.
Khawaja, Anthony P.
Lee, Richard K.
Li, Zheng
Lichter, Paul R.
Mackey, David A.
McGuffin, Peter
Mitchell, Paul
Moroi, Sayoko E.
Perera, Shamira A.
Pepper, Keating W.
Qi, Qibin
Realini, Tony
Richards, Julia E.
Ritch, Robert
Ritchie, Marylyn
Schuman, Joel S.
Scott, William K.
Singh, Kuldev
Sit, Arthur J.
Song, Yeunjoo E.
Topouzis, Fotis
Viswanathan, Ananth C.
Verma, Shefali Setia
Vollrath, Douglas
Wang, Jie Jin
Weisschuh, Nicole
Wissinger, Bernd
Wollstein, Gadi
Wong, Tien Y.
Yaspan, Brian L.
Zack, Donald J.
Zhang, Kang
Weinreb, Robert N.
Pericak-Vance, Margaret A.
Small, Kerrin
Hammond, Christopher J.
Aung, Tin
Liu, Yutao
Vithana, Eranga N.
MacGregor, Stuart
Craig, Jamie E.
Howell, Gareth
Hauser, Michael A.
Haines, Jonathan L.
Note: Order does not necessarily reflect citation order of authors.
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https://doi.org/10.1038/ng.3482Metadata
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Cooke Bailey, J. N., S. J. Loomis, J. H. Kang, R. R. Allingham, P. Gharahkhani, C. C. Khor, K. P. Burdon, et al. 2015. “Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open angle glaucoma.” Nature genetics 48 (2): 189-194. doi:10.1038/ng.3482. http://dx.doi.org/10.1038/ng.3482.Abstract
Primary open angle glaucoma (POAG) is a leading cause of blindness world-wide. To identify new susceptibility loci, we meta-analyzed GWAS results from 8 independent studies from the United States (3,853 cases and 33,480 controls) and investigated the most significant SNPs in two Australian studies (1,252 cases and 2,592 controls), 3 European studies (875 cases and 4,107 controls) and a Singaporean Chinese study (1,037 cases and 2,543 controls). A meta-analysis of top SNPs identified three novel loci: rs35934224[T] within TXNRD2 (odds ratio (OR) = 0.78, P = 4.05×10−11 encoding a mitochondrial protein required for redox homeostasis; rs7137828[T] within 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 novel targets for preventative therapies.Other Sources
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4731307/pdf/Terms of Use
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