Article
A large meta-analysis identifies genes associated with anterior uveitis.
Nature communications - 11 Nov 2023
Gelfman Sahar, Moscati Arden, Huergo Santiago Mendez, Wang Rujin, Rajagopal Veera, Parikshak Neelroop, Pounraja Vijay Kumar, Chen Esteban, Leblanc Michelle, Hazlewood Ralph, Freudenberg Jan, Cooper Blerta, Ligocki Ann J, Miller Charles G, Van Zyl Tavé, Weyne Jonathan, Romano Carmelo, Sagdullaev Botir, Melander Olle, Baras Aris, Stahl Eli A, Coppola Giovanni
Abstract excerpt
Anterior Uveitis (AU) is the inflammation of the anterior part of the eye, the iris and ciliary body and is strongly associated with HLA-B*27. We report AU exome sequencing results from eight independent cohorts consisting of 3,850 cases and 916,549 controls. We identify common genome-wide significant loci in HLA-B (OR = 3.37, p = 1.03e-196) and ERAP1 (OR = 0.86, p = 1.1e-08), and find IPMK (OR = 9.4,...
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