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Journal article

An SNP in the 5'-UTR of GDF5 is associated with osteoarthritis susceptibility in Europeans and with in vivo differences in allelic expression in articular cartilage.

Abstract:

A compelling genetic association with osteoarthritis (OA) of a functional SNP (rs143383, T/C) in the 5'-UTR of the GDF5 gene was recently reported in case-control cohorts from Japan and China. GDF5 is a pro-chondrogenic growth factor. The T-allele frequency of the gene was elevated in cases, with an odds ratio (OR) of 1.79, and in vitro functional studies demonstrated that this allele mediated a moderate but significant reduction in the activity of the GDF5 promoter in several cell lines. Our...

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Publication status:
Published

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Publisher copy:
10.1093/hmg/ddm174

Authors


Southam, L More by this author
Rodriguez-Lopez, J More by this author
Wilkins, JM More by this author
Pombo-Suarez, M More by this author
Snelling, S More by this author
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Journal:
Human molecular genetics
Volume:
16
Issue:
18
Pages:
2226-2232
Publication date:
2007-09-05
DOI:
EISSN:
1460-2083
ISSN:
0964-6906
URN:
uuid:0762a66d-2035-4a96-b16b-2a81686b1be8
Source identifiers:
107403
Local pid:
pubs:107403

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