Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma

Pirro G. Hysi, Ching Yu Cheng, Henriët Springelkamp, Stuart Macgregor, Jessica N Cooke Bailey, Robert Wojciechowski, Veronique Vitart, Abhishek Nag, Alex W. Hewitt, René Höhn, Cristina Venturini, Alireza Mirshahi, Wishal D. Ramdas, Gudmar Thorleifsson, Eranga Vithana, Chiea Chuen Khor, Arni B. Stefansson, Jiemin Liao, Jonathan L. Haines, Najaf Amin & 71 others Ya Xing Wang, Philipp S. Wild, Ayse B. Ozel, Jun Z. Li, Brian W. Fleck, Tanja Zeller, Sandra E. Staffieri, Yik Ying Teo, Gabriel Cuellar-Partida, Xiaoyan Luo, R. Rand Allingham, Julia E. Richards, Andrea Senft, Lennart C. Karssen, Yingfeng Zheng, Céline Bellenguez, Liang Xu, Adriana I. Iglesias, James F. Wilson, Jae H. Kang, Elisabeth M. Van Leeuwen, Vesteinn Jonsson, Unnur Thorsteinsdottir, Dominiek D G Despriet, Sarah Ennis, Sayoko E. Moroi, Nicholas G. Martin, Nomdo M. Jansonius, Seyhan Yazar, E. Shyong Tai, Philippe Amouyel, James Kirwan, Leonieke M E Van Koolwijk, Michael A. Hauser, Fridbert Jonasson, Paul Leo, Stephanie J. Loomis, Rhys Fogarty, Fernando Rivadeneira, Lisa Kearns, Karl J. Lackner, Paulus T V M De Jong, Claire L. Simpson, Craig E. Pennell, Ben A. Oostra, André G. Uitterlinden, Seang Mei Saw, Andrew J. Lotery, Joan E. Bailey-Wilson, Albert Hofman, Johannes R. Vingerling, Cécilia Maubaret, Norbert Pfeiffer, Roger C W Wolfs, Hans G. Lemij, Terri L. Young, Louis R. Pasquale, Cécile Delcourt, Timothy D. Spector, Caroline C W Klaver, Kerrin S. Small, Kathryn P. Burdon, Kari Stefansson, Tien Yin Wong, Ananth Viswanathan, David A. Mackey, Jamie E. Craig, Janey L. Wiggs, Cornelia M. Van Duijn, Christopher J. Hammond, Tin Aung

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Abstract

Elevated intraocular pressure (IOP) is an important risk factor in developing glaucoma, and variability in IOP might herald glaucomatous development or progression. We report the results of a genome-wide association study meta-analysis of 18 population cohorts from the International Glaucoma Genetics Consortium (IGGC), comprising 35,296 multi-ancestry participants for IOP. We confirm genetic association of known loci for IOP and primary open-angle glaucoma (POAG) and identify four new IOP-associated loci located on chromosome 3q25.31 within the FNDC3B gene (P = 4.19 × 10 '8 for rs6445055), two on chromosome 9 (P = 2.80 × 10 '11 for rs2472493 near ABCA1 and P = 6.39 × 10 '11 for rs8176693 within ABO) and one on chromosome 11p11.2 (best P = 1.04 × 10 '11 for rs747782). Separate meta-analyses of 4 independent POAG cohorts, totaling 4,284 cases and 95,560 controls, showed that 3 of these loci for IOP were also associated with POAG.

LanguageEnglish
Pages1126-1130
Number of pages5
JournalNature Genetics
Volume46
Issue number10
DOIs
Publication statusPublished - 1 Jan 2014

ASJC Scopus subject areas

  • Genetics

Cite this

Hysi, P. G., Cheng, C. Y., Springelkamp, H., Macgregor, S., Bailey, J. N. C., Wojciechowski, R., ... Aung, T. (2014). Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma. Nature Genetics, 46(10), 1126-1130. https://doi.org/10.1038/ng.3087