Article
Multitrait analysis of glaucoma identifies new risk loci and enables polygenic prediction of disease susceptibility and progression.
Nature genetics - 1 Feb 2020
Craig Jamie E, Han Xikun, Qassim Ayub, Hassall Mark, Cooke Bailey Jessica N, Kinzy Tyler G, Khawaja Anthony P, An Jiyuan, Marshall Henry, Gharahkhani Puya, Igo Robert P, Graham Stuart L, Healey Paul R, Ong Jue-Sheng, Zhou Tiger, Siggs Owen, Law Matthew H, Souzeau Emmanuelle, Ridge Bronwyn, Hysi Pirro G, Burdon Kathryn P, Mills Richard A, Landers John, Ruddle Jonathan B, Agar Ashish, Galanopoulos Anna, White Andrew J R, Willoughby Colin E, Andrew Nicholas H, Best Stephen, Vincent Andrea L, Goldberg Ivan, Radford-Smith Graham, Martin Nicholas G, Montgomery Grant W, Vitart Veronique, Hoehn Rene, Wojciechowski Robert, Jonas Jost B, Aung Tin, Pasquale Louis R, Cree Angela Jane, Sivaprasad Sobha, Vallabh Neeru A, Viswanathan Ananth C, Pasutto Francesca, Haines Jonathan L, Klaver Caroline C W, van Duijn Cornelia M, Casson Robert J, Foster Paul J, Khaw Peng Tee, Hammond Christopher J, Mackey David A, Mitchell Paul, Lotery Andrew J, Wiggs Janey L, Hewitt Alex W, MacGregor Stuart
Abstract excerpt
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...
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