Common Sequence Variants in the LOXL1 Gene Confer Susceptibility to Exfoliation Glaucoma-Reference-Cited by-全球学者库

Common Sequence Variants in the LOXL1 Gene Confer Susceptibility to Exfoliation Glaucoma

Published:2007-09-07 Issue:5843 Volume:317 Page:1397-1400
ISSN:0036-8075
Container-title:Science
language:en
Short-container-title:Science

Author:

Thorleifsson Gudmar¹²³⁴,Magnusson Kristinn P.¹²³⁴,Sulem Patrick¹²³⁴,Walters G. Bragi¹²³⁴,Gudbjartsson Daniel F.¹²³⁴,Stefansson Hreinn¹²³⁴,Jonsson Thorlakur¹²³⁴,Jonasdottir Adalbjorg¹²³⁴,Jonasdottir Aslaug¹²³⁴,Stefansdottir Gerdur¹²³⁴,Masson Gisli¹²³⁴,Hardarson Gudmundur A.¹²³⁴,Petursson Hjorvar¹²³⁴,Arnarsson Arsaell¹²³⁴,Motallebipour Mehdi¹²³⁴,Wallerman Ola¹²³⁴,Wadelius Claes¹²³⁴,Gulcher Jeffrey R.¹²³⁴,Thorsteinsdottir Unnur¹²³⁴,Kong Augustine¹²³⁴,Jonasson Fridbert¹²³⁴,Stefansson Kari¹²³⁴

Affiliation:

1. deCODE genetics Inc, 101 Reykjavik, Iceland.

2. Medical Faculty, University of Iceland, 101 Reykjavik, Iceland.

3. Department of Genetics and Pathology, Uppsala University, Rudbeck Laboratory, Uppsala, Sweden.

4. Department of Ophthalmology, National University Hospital, 101 Rykjavik, 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.

Publisher

American Association for the Advancement of Science (AAAS)

Subject

Multidisciplinary

Reference24 articles.

1. S. Resnikoffet al., Bull. World Health Org.82, 844 (2004).

2. The definition and classification of glaucoma in prevalence surveys

3. Prevalence of open-angle glaucoma in Iceland: Reykjavik Eye Study

4. Epidemiology of the pseudo-exfoliation syndrome, A review

5. The Risk of Glaucoma in Pseudoexfoliation Syndrome

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