Journal
NATURE GENETICS
Volume 50, Issue 6, Pages 778-+Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/s41588-018-0126-8
Keywords
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Categories
Funding
- Welsh Assembly Government
- British Heart Foundation
- Diabetes UK
- Medical Research Council [G1000143, MC_PC_13048]
- Cancer Research UK [C864/A14136]
- Research into Ageing [262]
- Moorfields Eye Charity grant
- Richard Desmond Charitable Trust (via Fight for Sight)
- Department for Health through the National Institute for Health Research
- UCL Institute of Ophthalmology
- NIH/NEI [R01EY022305, P30 EY014104]
- National Eye Institute [HG005259-01]
- GENEVA project grant [HG004728, U01-HG004424]
- National Eye Institute through ARRA grants [3R01EY015872-05S1, 3R01EY019126-02S1]
- NIH [EY015543, EY006827, HL73042, HL073389, EY13315, CA87969, CA49449, UM1 CA186107, UM1 CA 167552, EY009149, HG004608, EY008208, EY015473, EY012118, EY015682, EY011671, EY09580, EY013178, RR015574, EY015872, EY010886, EY009847, EY011008, EY144428, EY144448, EY18660]
- NCATS/NIH grant [UL1TR000427]
- National Heart, Lung, and Blood Institute [HL043851, HL080467]
- National Cancer Institute [CA047988]
- Donald W. Reynolds Foundation
- Fondation Leducq
- Amgen
- Harvard Glaucoma Center for Excellence
- Research to Prevent Blindness
- Harvard Medical School Distinguished Scholar award
- Fight for Sight PhD studentship
- FfS ECI fellowship
- TFC Frost Charitable Trust
- [U01HG004446]
- [1U02HG004608-01]
- [5U01HG006389-02]
- [R01 CA131332]
- [3R01 EY15473-5S1]
- Medical Research Council [MR/N003284/1, G1000143, MC_UU_12015/1, MC_PC_13048] Funding Source: researchfish
- National Institute for Health Research [NF-SI-0617-10149] Funding Source: researchfish
- MRC [MC_UU_12015/1, MR/N003284/1] Funding Source: UKRI
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Glaucoma is the leading cause of irreversible blindness globally1. Despite its gravity, the disease is frequently undiagnosed in the community2. Raised intraocular pressure (IOP) is the most important risk factor for primary open-angle glaucoma (POAG)(3,4). Here we present a meta-analysis of 139,555 European participants, which identified 112 genomic loci associated with IOP, 68 of which are novel. These loci suggest a strong role for angiopoietin-receptor tyrosine kinase signaling, lipid metabolism, mitochondrial function and developmental processes underlying risk for elevated IOP. In addition, 48 of these loci were nominally associated with glaucoma in an independent cohort, 14 of which were significant at a Bonferroni-corrected threshold. Regression-based glaucomaprediction models had an area under the receiver operating characteristic curve (AUROC) of 0.76 in US NEIGHBORHOOD study participants and 0.74 in independent glaucoma cases from the UK Biobank. Genetic-prediction models for POAG offer an opportunity to target screening and timely therapy to individuals most at risk.
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