Article
Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma.
Science (New York, N.Y.) - 7 Sept 2007
Thorleifsson Gudmar, Magnusson Kristinn P, Sulem Patrick, Walters G Bragi, Gudbjartsson Daniel F, Stefansson Hreinn, Jonsson Thorlakur, Jonasdottir Adalbjorg, Jonasdottir Aslaug, Stefansdottir Gerdur, Masson Gisli, Hardarson Gudmundur A, Petursson Hjorvar, Arnarsson Arsaell, Motallebipour Mehdi, Wallerman Ola, Wadelius Claes, Gulcher Jeffrey R, Thorsteinsdottir Unnur, Kong Augustine, Jonasson Fridbert, Stefansson Kari
Abstract excerpt
Glaucoma is a leading cause of irreversible blindness. A genome-wide search yielded multiple single-nucleotide polymorphisms (SNPs) in the 15q24.1 region associated with glaucoma. Further investigation revealed that the association is confined to exfoliation glaucoma (XFG). Two nonsynonymous SNPs in exon 1 of the gene LOXL1 explain the association, and the data suggest that they confer risk of XFG mainly through...
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