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

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

1061-4036
1126-1130
Hysi, Pirro G.
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Cheng, Ching-Yu
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Springelkamp, Henriët
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Macgregor, Stuart
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Bailey, Jessica N. Cooke
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Wojciechowski, Robert
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Vitart, Veronique
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Nag, Abhishek
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Hewitt, Alex W.
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Höhn, René
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Uitterlinden, André G.
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Pfeiffer, Norbert
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Hysi, Pirro G.
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Cheng, Ching-Yu
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Hysi, Pirro G., Cheng, Ching-Yu, Springelkamp, Henriët, Macgregor, Stuart, Bailey, Jessica N. Cooke, Wojciechowski, Robert, Vitart, Veronique, Nag, Abhishek, Hewitt, Alex W., Höhn, René, Venturini, Cristina, Mirshahi, Alireza, Ramdas, Wishal D., Thorleifsson, Gudmar, Vithana, Eranga, Khor, Chiea-Chuen, Stefansson, Arni B, Liao, Jiemin, Haines, Jonathan L., Amin, Najaf, Wang, Ya Xing, Wild, Philipp S., Ozel, Ayse B., Li, Jun Z., Fleck, Brian W., Zeller, Tanja, Staffieri, Sandra E., Teo, Yik-Ying, Cuellar-Partida, Gabriel, Luo, Xiaoyan, Allingham, R Rand, Richards, Julia E., Senft, Andrea, Karssen, Lennart C., Zheng, Yingfeng, Bellenguez, Céline, Xu, Liang, Iglesias, Adriana I., Wilson, James F., Kang, Jae H., van Leeuwen, Elisabeth M., Jonsson, Vesteinn, Thorsteinsdottir, Unnur, Despriet, Dominiek D.G., Ennis, Sarah, Moroi, Sayoko E., Martin, Nicholas G., Jansonius, Nomdo M., Yazar, Seyhan, Tai, E-Shyong, Amouyel, Philippe, Kirwan, James, van Koolwijk, Leonieke M.E., Hauser, Michael A., Jonasson, Fridbert, Leo, Paul, Loomis, Stephanie J., Fogarty, Rhys, Rivadeneira, Fernando, Kearns, Lisa, Lackner, Karl J., de Jong, Paulus T.V.M., Simpson, Claire L., Pennell, Craig E., Oostra, Ben A., Uitterlinden, André G., Saw, Seang-Mei, Lotery, Andrew J., Bailey-Wilson, Joan E., Hofman, Albert, Vingerling, Johannes R., Maubaret, Cécilia, Pfeiffer, Norbert, Wolfs, Roger C.W., Lemij, Hans G., Young, Terri L., Pasquale, Louis R., Delcourt, Cécile, Spector, Timothy D., Klaver, Caroline C.W., Small, Kerrin S., Burdon, Kathryn P., Stefansson, Kari, Wong, Tien-Yin, Viswanathan, Ananth, Mackey, David A., Craig, Jamie E., Wiggs, Janey L., van Duijn, Cornelia M., Hammond, Christopher J. and Aung, Tin (2014) Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma. Nature Genetics, 46 (10), 1126-1130. (doi:10.1038/ng.3087).

Record type: Article

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.

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More information

Accepted/In Press date: 31 August 2014
Published date: October 2014
Organisations: Human Development & Health, Clinical & Experimental Sciences

Identifiers

Local EPrints ID: 368516
URI: https://eprints.soton.ac.uk/id/eprint/368516
ISSN: 1061-4036
PURE UUID: 70632b2e-9db0-41a1-aa76-7689b401b1e9
ORCID for Sarah Ennis: ORCID iD orcid.org/0000-0003-2648-0869
ORCID for Andrew J. Lotery: ORCID iD orcid.org/0000-0001-5541-4305

Catalogue record

Date deposited: 11 Sep 2014 09:59
Last modified: 20 Jul 2019 01:09

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Contributors

Author: Pirro G. Hysi
Author: Ching-Yu Cheng
Author: Henriët Springelkamp
Author: Stuart Macgregor
Author: Jessica N. Cooke Bailey
Author: Robert Wojciechowski
Author: Veronique Vitart
Author: Abhishek Nag
Author: Alex W. Hewitt
Author: René Höhn
Author: Cristina Venturini
Author: Alireza Mirshahi
Author: Wishal D. Ramdas
Author: Gudmar Thorleifsson
Author: Eranga Vithana
Author: Chiea-Chuen Khor
Author: Arni B Stefansson
Author: Jiemin Liao
Author: Jonathan L. Haines
Author: Najaf Amin
Author: Ya Xing Wang
Author: Philipp S. Wild
Author: Ayse B. Ozel
Author: Jun Z. Li
Author: Brian W. Fleck
Author: Tanja Zeller
Author: Sandra E. Staffieri
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