DOI: 10.1038/ng.3482

¤ OpenAccess: Bronze

This work has “Bronze” OA status. This means it is free to read on the publisher landing page, but without any identifiable license.

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

Jessica N. Cooke Bailey,Stephanie 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 E. Ashley-Koch,Murray H. Brilliant,Andrew Anand Brown,Donald L. Budenz,Alfonso Buil,Ching‐Yu Cheng,Hyon K. Choi,William G. Christen,Gary C. Curhan,Immaculata De Vivo,John H. Fingert,Paul J. Foster,Charles S. Fuchs,Douglas E. Gaasterland,Terry Gaasterland,Alex W. Hewitt,Frank B. Hu,David J. Hunter,Anthony P. Khawaja,Richard K. Lee,Zheng Li,Paul R. Lichter,David A. Mackey,Peter McGuffin,Paul Mitchell,Sayoko E. Moroi,Shamira A. Perera,Keating W. Pepper,Qibin Qi,Tony Realini,Julia E. Richards,Paul M. Ridker,Eric B. Rimm,Robert Ritch,Marylyn D. Ritchie,Joel S. Schuman,William K. Scott,Kuldev Singh,Arthur J. Sit,Yeunjoo E. Song,Rulla M. Tamimi,Fotis Topouzis,Ananth C. Viswanathan,Shefali S. Verma,Douglas Vollrath,Jie Jin Wang,Nicole Weisschuh,Bernd Wissinger,Gadi Wollstein,Tien Yin Wong,Brian L. Yaspan,Donald J. Zack,Kang Zhang,Robert N. Weinreb,Margaret A. Pericak‐Vance,Kerrin S. Small,Christopher J. Hammond,Tin Aung,Yutao Liu,Eranga N. Vithana,Stuart MacGregor,Jamie E Craig,Peter Kraft,Gareth R. Howell,Michael A. Hauser,Louis R. Pasquale,Jonathan L. Haines,Janey L. Wiggs

Biology

Genome-wide association study

Open angle glaucoma

2016

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.

Cite this:

Generate Citation

“Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma” is a paper by Jessica N. Cooke Bailey Stephanie 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 E. Ashley-Koch Murray H. Brilliant Andrew Anand Brown Donald L. Budenz Alfonso Buil Ching‐Yu Cheng Hyon K. Choi William G. Christen Gary C. Curhan Immaculata De Vivo John H. Fingert Paul J. Foster Charles S. Fuchs Douglas E. Gaasterland Terry Gaasterland Alex W. Hewitt Frank B. Hu David J. Hunter Anthony P. Khawaja Richard K. Lee Zheng Li Paul R. Lichter David A. Mackey Peter McGuffin Paul Mitchell Sayoko E. Moroi Shamira A. Perera Keating W. Pepper Qibin Qi Tony Realini Julia E. Richards Paul M. Ridker Eric B. Rimm Robert Ritch Marylyn D. Ritchie Joel S. Schuman William K. Scott Kuldev Singh Arthur J. Sit Yeunjoo E. Song Rulla M. Tamimi Fotis Topouzis Ananth C. Viswanathan Shefali S. Verma Douglas Vollrath Jie Jin Wang Nicole Weisschuh Bernd Wissinger Gadi Wollstein Tien Yin Wong Brian L. Yaspan Donald J. Zack Kang Zhang Robert N. Weinreb Margaret A. Pericak‐Vance Kerrin S. Small Christopher J. Hammond Tin Aung Yutao Liu Eranga N. Vithana Stuart MacGregor Jamie E Craig Peter Kraft Gareth R. Howell Michael A. Hauser Louis R. Pasquale Jonathan L. Haines Janey L. Wiggs published in 2016. It has an Open Access status of “bronze”. You can read and download a PDF Full Text of this paper here.