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 AminYa 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, Leonieke M E van Koolwijk, Hans G Lemij,

Research output: Contribution to journalReview articlepeer-review


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
Issue number10
Publication statusPublished - Oct 2014


  • ABO Blood-Group System/genetics
  • ATP Binding Cassette Transporter 1/genetics
  • Adult
  • Aged
  • Aged, 80 and over
  • Chromosomes, Human, Pair 11/genetics
  • Chromosomes, Human, Pair 3/genetics
  • Chromosomes, Human, Pair 9/genetics
  • Cohort Studies
  • Female
  • Fibronectins/genetics
  • Genetic Loci/genetics
  • Genetic Predisposition to Disease/genetics
  • Genome-Wide Association Study
  • Genotype
  • Glaucoma/genetics
  • Glaucoma, Open-Angle/genetics
  • Humans
  • Intraocular Pressure/genetics
  • Male
  • Meta-Analysis as Topic
  • Middle Aged
  • Polymorphism, Single Nucleotide
  • Risk Factors
  • Young Adult


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