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

Pirro Hysi, Ching-Yu Cheng, Hanriët Springelkamp, Stuart Macgregor, J Bailey, Robert Wojciechowski, Veronique Vitart, Abhishek Nag, A W Hewitt, Rene Hohn, Cristina Venturini, Alireza Mirshahi, Wishal Ramdas, G Thorleifsson, Eranga Vithana, Chiea-Chuen Khor, Arni Stefansson, Jiemin Liao, Jonathan Haines, Najaf AminYaxing Wang, Philipp Wild, Ayse Ozel, Jun Li, B Fleck, Tanja Zeller, Sandra Staffieri, Yik-Ying Teo, Gabriel Cuellar-Partida, Xiaoyan Luo, R Allingham, Julia Richards, Andrea Senft, Lennart Karssen, Yingfeng Zheng, Céline Bellenguez, Liang Xu, Adriana Iglesias, James Wilson, Jae Kang, Elisabeth Van Leeuwen, Vesteinn Jonsson, Unnur Thorsteinsdottir, Dominiek Despriet, Sarah Ennis, Sayoko Moroi, Nicholas Martin, Nomdo Jansonius, Seyhan Yazar, E-Shyong Tai, Philippe Amouyel, James Kirwan, Leonieke van Koolwijk, Michael Hauser, Fridbert Jonasson, Paul Leo, Stephanie Loomis, Rhys Fogarty, Fernando Rivadeneira, Lisa Kearns, Karl Lackner, Paulus De Jong, Claire Simpson, Craig Pennell, Ben Oostra, André Uitterlinden, Seang-Mei Saw, Andrew Lotery, Joan Bailey-Wilson, Albert Hofman, Johannes Vingerling, Cécilia Maubaret, Norbert Pfeiffer, Roger Wolfs, Hans Lemij, Terri Young, Louis Pasquale, Cécile Delcourt, Tim Spector, Caroline Klaver, Kerrin Small, Kathryn Burdon, K Stefansson, Tien-Yin Wong, BMES GWAS Group, NEIGHBORHOOD Consortium, Wellcome Trust Case Control Co, Ananth Viswanathan, David Mackey, Jamie Craig, Janey Wiggs, Cornelia van Duijn, Christopher Hammond, Tin Aung

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    124 Citations (Scopus)

    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.

    Original languageEnglish
    Pages (from-to)1126-1130
    Number of pages5
    JournalNature Genetics
    Volume46
    Issue number10
    DOIs
    Publication statusPublished - 2014

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  • Cite this

    Hysi, P., Cheng, C-Y., Springelkamp, H., Macgregor, S., Bailey, J., Wojciechowski, R., Vitart, V., Nag, A., Hewitt, A. W., Hohn, R., Venturini, C., Mirshahi, A., Ramdas, W., Thorleifsson, G., Vithana, E., Khor, C-C., Stefansson, A., Liao, J., Haines, J., ... 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