Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/123608
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Type: Journal article
Title: Multitrait analysis of glaucoma identifies new risk loci and enables polygenic prediction of disease susceptibility and progression
Author: Craig, J.E.
Han, X.
Qassim, A.
Hassall, M.
Cooke Bailey, J.N.
Kinzy, T.G.
Khawaja, A.P.
An, J.
Marshall, H.
Gharahkhani, P.
Igo, R.P.
Graham, S.L.
Healey, P.R.
Ong, J.-.S.
Zhou, T.
Siggs, O.
Law, M.H.
Souzeau, E.
Ridge, B.
Hysi, P.G.
et al.
Citation: Nature Genetics, 2020; 52(2):160-166
Publisher: Nature Research
Issue Date: 2020
ISSN: 1061-4036
1546-1718
Statement of
Responsibility: 
Jamie E. Craig, Xikun Han ... Nicholas H (Nick) Andrew ... Robert J. Casson ... Anna Galanopoulos ... Mark M. Hassall ... et al.
Abstract: Glaucoma, a disease characterized by progressive optic nerve degeneration, can be prevented through timely diagnosis and treatment. We characterize optic nerve photographs of 67,040 UK Biobank participants and use a multitrait genetic model to identify risk loci for glaucoma. A glaucoma polygenic risk score (PRS) enables effective risk stratification in unselected glaucoma cases and modifies penetrance of the MYOC variant encoding p.Gln368Ter, the most common glaucoma-associated myocilin variant. In the unselected glaucoma population, individuals in the top PRS decile reach an absolute risk for glaucoma 10 years earlier than the bottom decile and are at 15-fold increased risk of developing advanced glaucoma (top 10% versus remaining 90%, odds ratio = 4.20). The PRS predicts glaucoma progression in prospectively monitored, early manifest glaucoma cases (P = 0.004) and surgical intervention in advanced disease (P = 3.6 × 10-6). This glaucoma PRS will facilitate the development of a personalized approach for earlier treatment of high-risk individuals, with less intensive monitoring and treatment being possible for lower-risk groups.
Keywords: NEIGHBORHOOD consortium; UK Biobank Eye and Vision Consortium; Optic Nerve; Humans; Glaucoma; Disease Progression; Genetic Predisposition to Disease; Glycoproteins; Cytoskeletal Proteins; Eye Proteins; Trabeculectomy; Odds Ratio; Case-Control Studies; Intraocular Pressure; Multifactorial Inheritance; Penetrance; Polymorphism, Single Nucleotide; United States; Australia; Genome-Wide Association Study; United Kingdom
Rights: Cpyright status unknown
RMID: 1000013006
DOI: 10.1038/s41588-019-0556-y
Grant ID: http://purl.org/au-research/grants/nhmrc/1107098
http://purl.org/au-research/grants/nhmrc/1116360
http://purl.org/au-research/grants/nhmrc/1023911
http://purl.org/au-research/grants/nhmrc/1116495
http://purl.org/au-research/grants/nhmrc/1147571
http://purl.org/au-research/grants/nhmrc/1150144
http://purl.org/au-research/grants/nhmrc/1063061
http://purl.org/au-research/grants/nhmrc/1154543
http://purl.org/au-research/grants/nhmrc/1154824
http://purl.org/au-research/grants/nhmrc/1059954
http://purl.org/au-research/grants/nhmrc/1154513
http://purl.org/au-research/grants/nhmrc/1103329
http://purl.org/au-research/grants/arc/FT130101902
Appears in Collections:Medicine publications

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