A large multi-ethnic genome-wide association study identifies novel genetic loci for intraocular pressure

Hélène Choquet (), Khanh K. Thai, Jie Yin, Thomas J. Hoffmann, Mark N. Kvale, Yambazi Banda, Catherine Schaefer, Neil Risch, K. Saidas Nair, Ronald Melles and Eric Jorgenson ()
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Hélène Choquet: Kaiser Permanente Northern California (KPNC), Division of Research
Khanh K. Thai: Kaiser Permanente Northern California (KPNC), Division of Research
Jie Yin: Kaiser Permanente Northern California (KPNC), Division of Research
Thomas J. Hoffmann: Institute for Human Genetics, University of California San Francisco (UCSF)
Mark N. Kvale: Institute for Human Genetics, University of California San Francisco (UCSF)
Yambazi Banda: Institute for Human Genetics, University of California San Francisco (UCSF)
Catherine Schaefer: Kaiser Permanente Northern California (KPNC), Division of Research
Neil Risch: Kaiser Permanente Northern California (KPNC), Division of Research
K. Saidas Nair: Departments of Ophthalmology and Anatomy, School of Medicine, UCSF
Ronald Melles: KPNC, Department of Ophthalmology
Eric Jorgenson: Kaiser Permanente Northern California (KPNC), Division of Research

Nature Communications, 2017, vol. 8, issue 1, 1-9

Abstract: Abstract Elevated intraocular pressure (IOP) is a major risk factor for glaucoma, a leading cause of blindness. IOP heritability has been estimated to up to 67%, and to date only 11 IOP loci have been reported, accounting for 1.5% of IOP variability. Here, we conduct a genome-wide association study of IOP in 69,756 untreated individuals of European, Latino, Asian, and African ancestry. Multiple longitudinal IOP measurements were collected through electronic health records and, in total, 356,987 measurements were included. We identify 47 genome-wide significant IOP-associated loci (P

Date: 2017
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DOI: 10.1038/s41467-017-01913-6

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