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

2.50
Hdl Handle:
http://hdl.handle.net/2336/14499
Title:
Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma
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
Citation:
Science 2007, 317(5843):1397-400
Issue Date:
7-Sep-2007
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.
Description:
To access publisher full text version of this article. Please click on the hyperlink in Additional Links field
Additional Links:
http://www.sciencemag.org/cgi/content/abstract/317/5843/1397

Full metadata record

DC FieldValue Language
dc.contributor.authorThorleifsson, Gudmar-
dc.contributor.authorMagnusson, Kristinn P-
dc.contributor.authorSulem, Patrick-
dc.contributor.authorWalters, G Bragi-
dc.contributor.authorGudbjartsson, Daniel F-
dc.contributor.authorStefansson, Hreinn-
dc.contributor.authorJonsson, Thorlakur-
dc.contributor.authorJonasdottir, Adalbjorg-
dc.contributor.authorJonasdottir, Aslaug-
dc.contributor.authorStefansdottir, Gerdur-
dc.contributor.authorMasson, Gisli-
dc.contributor.authorHardarson, Gudmundur A-
dc.contributor.authorPetursson, Hjorvar-
dc.contributor.authorArnarsson, Arsaell-
dc.contributor.authorMotallebipour, Mehdi-
dc.contributor.authorWallerman, Ola-
dc.contributor.authorWadelius, Claes-
dc.contributor.authorGulcher, Jeffrey R-
dc.contributor.authorThorsteinsdottir, Unnur-
dc.contributor.authorKong, Augustine-
dc.contributor.authorJonasson, Fridbert-
dc.contributor.authorStefansson, Kari-
dc.date.accessioned2007-11-07T13:53:10Z-
dc.date.available2007-11-07T13:53:10Z-
dc.date.issued2007-09-07-
dc.date.submitted2007-11-07-
dc.identifier.citationScience 2007, 317(5843):1397-400en
dc.identifier.issn1095-9203-
dc.identifier.pmid17690259-
dc.identifier.doi10.1126/science.1146554-
dc.identifier.otherOPH12-
dc.identifier.urihttp://hdl.handle.net/2336/14499-
dc.descriptionTo access publisher full text version of this article. Please click on the hyperlink in Additional Links fielden
dc.description.abstractGlaucoma 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.en
dc.language.isoenen
dc.publisherAmerican Association for the Advancement of Scienceen
dc.relation.urlhttp://www.sciencemag.org/cgi/content/abstract/317/5843/1397en
dc.subject.meshAdipose Tissueen
dc.subject.meshAmino Acid Oxidoreductasesen
dc.subject.meshCase-Control Studiesen
dc.subject.meshChi-Square Distributionen
dc.subject.meshExfoliation Syndromeen
dc.subject.meshGene Expressionen
dc.subject.meshGenetic Predisposition to Diseaseen
dc.subject.meshGenotypeen
dc.subject.meshGlaucomaen
dc.subject.meshGlaucoma, Open-Angleen
dc.subject.meshIcelanden
dc.subject.meshPolymorphism, Single Nucleotideen
dc.titleCommon sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucomaen
dc.typeArticleen
dc.identifier.journalScience (New York, N.Y.)en
dc.format.digYES-

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