. "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 exfoliation syndrome (XFS). About 25% of the general population is homozygous for the highest-risk haplotype, and their risk of suffering from XFG is more than 100 times that of individuals carrying only low-risk haplotypes. The population-attributable risk is more than 99%. The product of LOXL1 catalyzes the formation of elastin fibers found to be a major component of the lesions in XFG." . . "Science" . "Stefansson K." . "Jonsson T." . "Gulcher J.R." . "Jonasdottir A." . "Kong A." . "Magnusson K.P." . "Wadelius C." . "Thorsteinsdottir U." . "Jonasson F." . "Stefansson H." . "Gudbjartsson D.F." . "Petursson H." . "Stefansdottir G." . "Thorleifsson G." . "Wallerman O." . "Walters G.B." . "Sulem P." . "Jonasdottir A.'" . "Masson G." . "Hardarson G.A." . "Arnarsson A." . "Motallebipour M." . "2007"^^ . "1397-1400" . "Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma." . "317" . "doi:10.1126/science.1146554" .