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Abstract #19653 Published in IGR 9-3
Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma
Thorleifsson G; Magnusson KP; Sulem P; Walters GB; Gudbjartsson DF; Stefansson H; Jonsson T; Jonasdottir A; Stefansdottir GScience 2007; 317: 1397-1400
See also comment(s) by Rosario Hernandez • Rand Allingham • Wallace Alward •
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.
Dr. G. Thorleifsson, deCODE genetics Inc, 101 Reykjavik, Iceland
Classification:
3.4.2 Gene studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)
9.4.4.1 Exfoliation syndrome (Part of: 9 Clinical forms of glaucomas > 9.4 Glaucomas associated with other ocular and systemic disorders > 9.4.4 Glaucomas associated with disorders of the lens)