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Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma
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2007 (English)In: Science, ISSN 0036-8075, E-ISSN 1095-9203, Vol. 317, no 5843, 1397-1400 p.Article in journal (Refereed) Published
Abstract [en]

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.

Place, publisher, year, edition, pages
2007. Vol. 317, no 5843, 1397-1400 p.
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Medical and Health Sciences
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URN: urn:nbn:se:uu:diva-16661DOI: 10.1126/science.1146554ISI: 000249377500048PubMedID: 17690259OAI: oai:DiVA.org:uu-16661DiVA: diva2:44432
Available from: 2008-06-02 Created: 2008-06-02 Last updated: 2017-12-08Bibliographically approved

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Motallebipour, MehdiWallerman, OlaWadelius, Claes

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