Article
Large-scale multitrait genome-wide association analyses identify hundreds of glaucoma risk loci.
Nature genetics - 1 Jul 2023
Han Xikun, Gharahkhani Puya, Hamel Andrew R, Ong Jue Sheng, Rentería Miguel E, Mehta Puja, Dong Xianjun, Pasutto Francesca, Hammond Christopher, Young Terri L, Hysi Pirro, Lotery Andrew J, Jorgenson Eric, Choquet Hélène, Hauser Michael, Cooke Bailey Jessica N, Nakazawa Toru, Akiyama Masato, Shiga Yukihiro, Fuller Zachary L, Wang Xin, Hewitt Alex W, Craig Jamie E, Pasquale Louis R, Mackey David A, Wiggs Janey L, Khawaja Anthony P, Segrè Ayellet V, MacGregor Stuart
Abstract excerpt
Glaucoma, a leading cause of irreversible blindness, is a highly heritable human disease. Previous genome-wide association studies have identified over 100 loci for the most common form, primary open-angle glaucoma. Two key glaucoma-associated traits also show high heritability: intraocular pressure and optic nerve head excavation damage quantified as the vertical cup-to-disc ratio. Here, since much of glaucoma...
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