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

Science. 2007 Sep 7;317(5843):1397-400. doi: 10.1126/science.1146554. Epub 2007 Aug 9.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adipose Tissue / metabolism
  • Amino Acid Oxidoreductases / genetics*
  • Case-Control Studies
  • Chi-Square Distribution
  • Exfoliation Syndrome / genetics*
  • Female
  • Gene Expression
  • Genetic Predisposition to Disease*
  • Genotype
  • Glaucoma / genetics*
  • Glaucoma, Open-Angle / genetics
  • Humans
  • Iceland
  • Male
  • Polymorphism, Single Nucleotide


  • Amino Acid Oxidoreductases
  • LOXL1 protein, human