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...

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Published in:Science
Main Authors: Thorleifsson, Gudmar, Magnusson, Kristinn P, Sulem, Patrick, Walters, G Bragi, Gudbjartsson, Daniel F, Stefansson, Hreinn, Jonsson, Thorlakur, Jonasdottir, Adalbjorg, Jonasdottir, Aslaug, Stefansdottir, Gerdur, Masson, Gisli, Hardarson, Gudmundur A, Petursson, Hjorvar, Arnarsson, Arsaell, Motallebipour, Mehdi, Wallerman, Ola, Wadelius, Claes, Gulcher, Jeffrey R, Thorsteinsdottir, Unnur, Kong, Augustine, Jonasson, Fridbert, Stefansson, Kari
Format: Article in Journal/Newspaper
Language:English
Published: American Association for the Advancement of Science 2007
Subjects:
Adipose Tissue
Amino Acid Oxidoreductases
Case-Control Studies
Chi-Square Distribution
Exfoliation Syndrome
Gene Expression
Genetic Predisposition to Disease
Genotype
Glaucoma
Open-Angle
Iceland
Polymorphism
Single Nucleotide
Online Access:http://hdl.handle.net/2336/14499
https://doi.org/10.1126/science.1146554
Description
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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