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


Hysi, PG and Cheng, CY and Springelkamp, H and Macgregor, S and Bailey, JN and Wojciechowski, R and Vitart, V and Nag, A and Hewitt, AW and Hohn, R and Venturini, C and Mirshahi, A and Ramdas, WD and Thorleifsson, G and Vithana, E and Khor, CC and Stefansson, AB and Liao, J and Haines, JL and Amin, N and Wang, YX and Wild, PS and Ozel, AB and Li, JZ and Fleck, BW and Zeller, T and Staffieri, SE and Teo, YY and Cuellar-Partida, G and Luo, X and Allingham, RR and Richards, JE and Senft, A and Karssen, LC and Zheng, Y and Bellenguez, C and Xu, L and Iglesias, AI and Wilson, JF and Kang, JH and van Leeuwen, EM and Jonsson, V and Thorsteinsdottir, U and Despriet, DD and Ennis, S and Moroi, SE and Martin, NG and Jansonius, NM and Yazar, S and Tai, ES and Amouyel, P and Kirwan, J and van Koolwijk, LM and Hauser, MA and Jonasson, F and Leo, P and Loomis, SJ and Fogarty, R and Rivadeneira, F and Kearns, L and Lackner, KJ and de Jong, PT and Simpson, CL and Pennell, CE and Oostra, BA and Uitterlinden, AG and Saw, SM and Lotery, AJ and Bailey-Wilson, JE and Hofman, A and Vingerling, JR and Maubaret, C and Pfeiffer, N and Wolfs, RC and Lemij, HG and Young, TL and Pasquale, LR and Delcourt, C and Spector, TD and Klaver, CC and Small, KS and Burdon, KP and Stefansson, K and Wong, TY and Viswanathan, A and Mackey, DA and Craig, JE and Wiggs, JL and van Duijn, CM and Hammond, CJ and Aung, T, BMES GWAS Group; NEIGHBORHOOD Consortium; Wellcome Trust Case Control Consortium 2, Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma, Nature Genetics, 46 pp. 1126-1130. ISSN 1546-1718 (2014) [Refereed Article]

Copyright Statement

Copyright 2014 Nature America Inc.

DOI: doi:10.1038/ng.3087


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.

Item Details

Item Type:Refereed Article
Keywords:glaucoma, genetics, open-angle
Research Division:Biological Sciences
Research Group:Genetics
Research Field:Gene mapping
Objective Division:Health
Objective Group:Clinical health
Objective Field:Clinical health not elsewhere classified
UTAS Author:Hewitt, AW (Professor Alex Hewitt)
UTAS Author:Burdon, KP (Professor Kathryn Burdon)
UTAS Author:Mackey, DA (Professor David Mackey)
ID Code:94294
Year Published:2014
Web of Science® Times Cited:162
Deposited By:Menzies Institute for Medical Research
Deposited On:2014-09-05
Last Modified:2017-11-07

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