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Am J Ophthalmol. 2007 Dec;144(6):974-975.
Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma.
Thorleifsson G,
Magnusson KP,
Sulem P,
Walters GB,
Gudbjartsson DF,
Stefansson H,
Jonsson T,
Jonasdottir A,
Jonasdottir A,
Stefansdottir G,
Masson G,
Hardarson GA,
Petursson H,
Arnarsson A,
Motallebipour M,
Wallerman O,
Wadelius C,
Gulcher JR,
Thorsteinsdottir U,
Kong A,
Jonasson F,
Stefansson K.
deCODE genetics Inc, 101 Reykjavik, Iceland.
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.
PMID: 17690259 [PubMed - indexed for MEDLINE]
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Cited by 36 PubMed Central articles
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Association of LOXL1 polymorphisms with pseudoexfoliation in the Chinese.
Lee KY, Ho SL, Thalamuthu A, Venkatraman A, Venkataraman D, Pek DC, Aung T, Vithana EN.
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Price AL, Helgason A, Palsson S, Stefansson H, St Clair D, Andreassen OA, Reich D, Kong A, Stefansson K.
PLoS Genet. 2009 Jun; 5(6):e1000505. Epub 2009 Jun 5.
[PLoS Genet. 2009]
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Different WDR36 mutation pattern in Chinese patients with primary open-angle glaucoma.
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