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Science. 2007 Sep 7;317(5843):1397-400. Epub 2007 Aug 9.

Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma.

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  • 1deCODE genetics Inc, 101 Reykjavik, Iceland.

Abstract

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.

PMID:
17690259
[PubMed - indexed for MEDLINE]
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