Common Sequence Variants in the LOXL1 Gene Confer Susceptibility to Exfoliation Glaucoma
Top Cited Papers
- 7 September 2007
- journal article
- other
- Published by American Association for the Advancement of Science (AAAS) in Science
- Vol. 317 (5843), 1397-1400
- https://doi.org/10.1126/science.1146554
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.This publication has 20 references indexed in Scilit:
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