Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma
To access publisher full text version of this article. Please click on the hyperlink in Additional Links field 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 i...
Published in: | Science |
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Main Authors: | , , , , , , , , , , , , , , , , , , , , , |
Format: | Article in Journal/Newspaper |
Language: | English |
Published: |
American Association for the Advancement of Science
2007
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Subjects: | |
Online Access: | http://hdl.handle.net/2336/14499 https://doi.org/10.1126/science.1146554 |
Summary: | To access publisher full text version of this article. Please click on the hyperlink in Additional Links field 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. |
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