- 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...
Expand abstract - Publication status:
- Published
- Publisher copy:
- 10.1093/hmg/ddm174
-
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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
- Language:
- English
- Keywords:
- Copyright date:
- 2007
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.
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