Source:http://linkedlifedata.com/resource/pubmed/id/19343041
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
5
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pubmed:dateCreated |
2009-5-25
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pubmed:abstractText |
In this study, three single-nucleotide polymorphisms (SNPs) on the lysyl oxidase-like 1 (LOXL1) gene associated with exfoliation syndrome (XFS) and exfoliation glaucoma (XFG) were investigated in the Finnish population. A case-control study of 59 sporadic patients with XFS, 82 with XFG, 71 with primary open-angle glaucoma (POAG) and 26 individuals without these disorders from the southern Finnish population, and a family study of an extended family with 28 patients with XFS or XFG and 92 unaffected relatives from Kökar islands, Southwestern Finnish archipelago, were conducted. Anonymous blood donors (n=404) were studied as population-based controls. Three SNPs, rs1048661 (R141L), rs3825942 (G153D) and rs2165241, of the LOXL1 gene were genotyped by PCR sequencing. Association and linkage analyses were carried out. In both case-control and family materials, significant association for allele G of rs1048661 (P=2.65 x 10(-5); P=0.0007), allele G of rs3825942 (P=2.24 x 10(-8); P=0.49) and allele T of rs2165241 (P=2.62 x 10(-13); P<0.0001) was found in XFS/XFG. However, linkage was not observed for LOXL1 risk alleles. The corresponding three-locus haplotype GGT increased the risk of XFS/ XFG nearly 15-fold relative to low-risk haplotype GAC (odds ratio (OR): 14.9, P=1.6 x 10(-16)). In conclusion, the earlier reported polymorphisms of the LOXL1 gene showed significant association also in the Finnish population.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
May
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pubmed:issn |
1435-232X
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pubmed:author |
pubmed-author:ErikssonAldurA,
pubmed-author:ForsiusHenrikH,
pubmed-author:ForsmanEvaE,
pubmed-author:HegerMartinM,
pubmed-author:JärveläIrmaI,
pubmed-author:KiveläTeroT,
pubmed-author:LaivuoriHanneleH,
pubmed-author:LemmeläSusannaS,
pubmed-author:NurmiHannaH,
pubmed-author:OnkamoPäiviP,
pubmed-author:PuskaPäiviP
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pubmed:issnType |
Electronic
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pubmed:volume |
54
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
289-97
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
pubmed-meshheading:19343041-Aged, 80 and over,
pubmed-meshheading:19343041-Alleles,
pubmed-meshheading:19343041-Amino Acid Oxidoreductases,
pubmed-meshheading:19343041-Case-Control Studies,
pubmed-meshheading:19343041-Exfoliation Syndrome,
pubmed-meshheading:19343041-Family,
pubmed-meshheading:19343041-Finland,
pubmed-meshheading:19343041-Genetic Linkage,
pubmed-meshheading:19343041-Genetic Loci,
pubmed-meshheading:19343041-Genetic Predisposition to Disease,
pubmed-meshheading:19343041-Glaucoma, Open-Angle,
pubmed-meshheading:19343041-Haplotypes,
pubmed-meshheading:19343041-Humans,
pubmed-meshheading:19343041-Polymorphism, Single Nucleotide
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pubmed:year |
2009
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pubmed:articleTitle |
Association of LOXL1 gene with Finnish exfoliation syndrome patients.
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pubmed:affiliation |
Department of Medical Genetics, University of Helsinki, Helsinki, Finland. susanna.lemmela@helsinki.fi
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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