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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), pp. 708-712. (doi:10.1002/art.30169). (PMID:21360499 ).

Record type: Article


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.

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Published date: March 2011
Organisations: Medicine


Local EPrints ID: 177059
ISSN: 0004-3591
PURE UUID: fdf65f4f-954d-40aa-bc89-8cd741c912bd
ORCID for C. Cooper: ORCID iD

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Date deposited: 14 Mar 2011 15:44
Last modified: 18 Jul 2017 12:06

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Author: F.M.K. Williams
Author: M. Popham
Author: D.J. Hart
Author: E. de Schepper
Author: S. Bierma-Zeinstra
Author: A. Hofman
Author: A.G. Uitterlinden
Author: N.K. Arden
Author: C. Cooper ORCID iD
Author: T.D. Spector
Author: A. Valdes
Author: J. van Meurs

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