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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
5843
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pubmed:dateCreated |
2007-9-7
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pubmed:abstractText |
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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pubmed:commentsCorrections |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Sep
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pubmed:issn |
1095-9203
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pubmed:author |
pubmed-author:ArnarssonArsaellA,
pubmed-author:GudbjartssonDaniel FDF,
pubmed-author:GulcherJeffrey RJR,
pubmed-author:HardarsonGudmundur AGA,
pubmed-author:JonasdottirAdalbjorgA,
pubmed-author:JonasdottirAslaugA,
pubmed-author:JonassonFridbertF,
pubmed-author:JonssonThorlakurT,
pubmed-author:KongAugustineA,
pubmed-author:MagnussonKristinn PKP,
pubmed-author:MassonGisliG,
pubmed-author:MotallebipourMehdiM,
pubmed-author:PeturssonHjorvarH,
pubmed-author:StefansdottirGerdurG,
pubmed-author:StefanssonHreinnH,
pubmed-author:StefanssonKariK,
pubmed-author:SulemPatrickP,
pubmed-author:ThorleifssonGudmarG,
pubmed-author:ThorsteinsdottirUnnurU,
pubmed-author:WadeliusClaesC,
pubmed-author:WallermanOlaO,
pubmed-author:WaltersG BragiGB
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pubmed:issnType |
Electronic
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pubmed:day |
7
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pubmed:volume |
317
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1397-400
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pubmed:dateRevised |
2008-1-29
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pubmed:meshHeading |
pubmed-meshheading:17690259-Adipose Tissue,
pubmed-meshheading:17690259-Amino Acid Oxidoreductases,
pubmed-meshheading:17690259-Case-Control Studies,
pubmed-meshheading:17690259-Chi-Square Distribution,
pubmed-meshheading:17690259-Exfoliation Syndrome,
pubmed-meshheading:17690259-Female,
pubmed-meshheading:17690259-Gene Expression,
pubmed-meshheading:17690259-Genetic Predisposition to Disease,
pubmed-meshheading:17690259-Genotype,
pubmed-meshheading:17690259-Glaucoma,
pubmed-meshheading:17690259-Glaucoma, Open-Angle,
pubmed-meshheading:17690259-Humans,
pubmed-meshheading:17690259-Iceland,
pubmed-meshheading:17690259-Male,
pubmed-meshheading:17690259-Polymorphism, Single Nucleotide
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pubmed:year |
2007
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pubmed:articleTitle |
Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma.
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pubmed:affiliation |
deCODE genetics Inc, 101 Reykjavik, Iceland.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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