GDF5 single-nucleotide polymorphism rs143383 is associated with the lumbar disc degeneration in Northern European women
Williams, F.M.K., Popham, M., Hart, D.J., de Schepper, E., Bierma-Zeinstra, S., Hofman, A., Uitterlinden, A.G., Arden, N.K., Cooper, C., Spector, T.D., Valdes, A. and van Meurs, J. (2011) GDF5 single-nucleotide polymorphism rs143383 is associated with the lumbar disc degeneration in Northern European women. Arthritis & Rheumatism, 63, (3), 708-712. (doi:10.1002/art.30169). (PMID:21360499 ).
Download
Full text not available from this repository.
Description/Abstract
Objective: Lumbar disc degeneration (LDD) is a serious social and medical problem which has been shown to be highly heritable. It has similarities with peripheral joint osteoarthritis (OA) in terms of both epidemiology and pathologic processes. A few known genetic variants have been identified using a candidate gene approach, but many more are thought to exist. GDF5 is a gene whose variants have been shown to play a role in skeletal height as well as predisposing to peripheral joint OA. In vitro, the gene product growth differentiation factor 5 has been shown to promote growth and repair of animal disc. This study was undertaken to investigate whether the GDF5 gene plays a role in LDD.
Methods: We investigated whether the 5′ upstream single-nucleotide polymorphism (SNP) variant rs143383 was associated with LDD, using plain radiography and magnetic resonance imaging to identify disc space narrowing and osteophytes, in 5 population cohorts from Northern Europe.
Results: An association between LDD and the SNP rs143383 was identified in women, with the same risk allele as in knee and hip OA (odds ratio 1.72 [95% confidence interval 1.15–2.57], P = 0.008).
Conclusion: Our findings in 5 population cohorts from Northern Europe indicate that a variant in the GDF5 gene is a risk factor for LDD in women. Many more such variants are predicted to exist, but this result highlights the growth and differentiation cellular pathway as a possible route to a better understanding of the process behind lumbar disc degeneration.
| Item Type: | Article |
|---|---|
| ISSNs: | 0004-3591 (print) 1529-0131 (electronic) |
| Subjects: | R Medicine > RB Pathology R Medicine > RC Internal medicine |
| Divisions: | University Structure - Pre August 2011 > School of Medicine |
| Item ID: | 177059 |
| Date Deposited: | 14 Mar 2011 15:44 |
| Last Modified: | 01 Jun 2011 03:21 |
| Contributors: | Williams, F.M.K. (Author) Popham, M. (Author) Hart, D.J. (Author) de Schepper, E. (Author) Bierma-Zeinstra, S. (Author) Hofman, A. (Author) Uitterlinden, A.G. (Author) Arden, N.K. (Author) Cooper, C. (Author) Spector, T.D. (Author) Valdes, A. (Author) van Meurs, J. (Author) |
| Date: | March 2011 |
| Status: | Published |
| URI: | http://eprints.soton.ac.uk/id/eprint/177059 |
Actions (login required)
 |
View Item |
