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Genome-wide analyses identify 68 new loci associated with intraocular pressure and improve risk prediction for primary open-angle glaucoma.

Abstract：

:Glaucoma is the leading cause of irreversible blindness globally 1 . Despite its gravity, the disease is frequently undiagnosed in the community 2 . 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 glaucoma-prediction 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.

journal_name

Nat Genet

journal_title

Nature genetics

authors

Khawaja AP,Cooke Bailey JN,Wareham NJ,Scott RA,Simcoe M,Igo RP Jr,Song YE,Wojciechowski R,Cheng CY,Khaw PT,Pasquale LR,Haines JL,Foster PJ,Wiggs JL,Hammond CJ,Hysi PG,UK Biobank Eye and Vision Consortium.,NEIGHBORHOOD C

doi

10.1038/s41588-018-0126-8

subject

Has Abstract

pub_date

2018-06-01 00:00:00

pages

778-782

issue

6

eissn

1061-4036

issn

1546-1718

pii

10.1038/s41588-018-0126-8

journal_volume

50

pub_type

杂志文章,meta分析

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