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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
4
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pubmed:dateCreated |
2007-3-29
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pubmed:databankReference |
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pubmed:abstractText |
Osteoarthritis (MIM 165720), characterized by degeneration of articular cartilage, is the most common form of human arthritis and a major concern for aging societies worldwide. Epidemiological and genetic studies have shown that osteoarthritis is a polygenic disease. Here, we report that the gene encoding growth differentiation factor 5 (GDF5) is associated with osteoarthritis in Asian populations. A SNP in the 5' UTR of GDF5 (+104T/C; rs143383) showed significant association (P = 1.8 x 10(-13)) with hip osteoarthritis in two independent Japanese populations. This association was replicated for knee osteoarthritis in Japanese (P = 0.0021) and Han Chinese (P = 0.00028) populations. This SNP, located in the GDF5 core promoter, exerts allelic differences on transcriptional activity in chondrogenic cells, with the susceptibility allele showing reduced activity. Our findings implicate GDF5 as a susceptibility gene for osteoarthritis and suggest that decreased GDF5 expression is involved in the pathogenesis of osteoarthritis.
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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 |
Apr
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pubmed:issn |
1061-4036
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pubmed:author |
pubmed-author:FujiokaMikihiroM,
pubmed-author:IkegawaShiroS,
pubmed-author:JiangQingQ,
pubmed-author:KuboToshikazuT,
pubmed-author:MabuchiAkihikoA,
pubmed-author:MiyamotoYoshinariY,
pubmed-author:NakamuraYusukeY,
pubmed-author:OzakiKoichiK,
pubmed-author:SaitoSusumuS,
pubmed-author:ShiDongquanD,
pubmed-author:SudoAkihiroA,
pubmed-author:TakatoriYoshioY,
pubmed-author:TakigawaMasaharuM,
pubmed-author:TanakaToshihiroT,
pubmed-author:UchidaAtsumasaA,
pubmed-author:YamamotoSeizoS
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pubmed:issnType |
Print
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pubmed:volume |
39
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
529-33
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pubmed:dateRevised |
2008-11-21
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pubmed:meshHeading |
pubmed-meshheading:17384641-5' Untranslated Regions,
pubmed-meshheading:17384641-Asian Continental Ancestry Group,
pubmed-meshheading:17384641-Bone Morphogenetic Proteins,
pubmed-meshheading:17384641-Case-Control Studies,
pubmed-meshheading:17384641-Cells, Cultured,
pubmed-meshheading:17384641-Gene Expression Regulation,
pubmed-meshheading:17384641-Gene Frequency,
pubmed-meshheading:17384641-Genetic Predisposition to Disease,
pubmed-meshheading:17384641-Growth Differentiation Factor 5,
pubmed-meshheading:17384641-Humans,
pubmed-meshheading:17384641-Linkage Disequilibrium,
pubmed-meshheading:17384641-Osteoarthritis,
pubmed-meshheading:17384641-Polymorphism, Single Nucleotide,
pubmed-meshheading:17384641-Transfection
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pubmed:year |
2007
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pubmed:articleTitle |
A functional polymorphism in the 5' UTR of GDF5 is associated with susceptibility to osteoarthritis.
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pubmed:affiliation |
Laboratory for Bone and Joint Diseases, SNP Research Center, RIKEN, 4-6-1, Shirokanedai, Minato-ku, Tokyo 108-8639, Japan.
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pubmed:publicationType |
Journal Article,
Multicenter Study
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