GDF5 single-nucleotide polymorphism rs143383 is associated with the lumbar disc degeneration in Northern European women
GDF5 single-nucleotide polymorphism rs143383 is associated with the lumbar disc degeneration in Northern European women
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.
708-712
Williams, F.M.K.
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Popham, M.
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Hart, D.J.
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de Schepper, E.
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Bierma-Zeinstra, S.
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Hofman, A.
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Uitterlinden, A.G.
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Arden, N.K.
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Cooper, C.
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Spector, T.D.
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Valdes, A.
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van Meurs, J.
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March 2011
Williams, F.M.K.
f3d0749c-fe12-4f12-9dc7-35eb420d6b57
Popham, M.
e8923e2d-3536-4fd9-9917-bb18de0ff4f7
Hart, D.J.
00e78191-ce14-4b5f-a720-9f1bb51b2b62
de Schepper, E.
3d7b8e9f-eb52-4663-b8c7-bc5164c7f874
Bierma-Zeinstra, S.
d8bf8275-073f-445f-b8c3-e61a6d8df62d
Hofman, A.
8f795bf8-bf5d-457a-b50b-79f1a262203f
Uitterlinden, A.G.
e15f45d4-cdaf-4d8e-9f77-38e4cddd3c5a
Arden, N.K.
23af958d-835c-4d79-be54-4bbe4c68077f
Cooper, C.
e05f5612-b493-4273-9b71-9e0ce32bdad6
Spector, T.D.
87d1f285-3f22-4c9a-b006-d65cfda6d3e0
Valdes, A.
f0696ece-280a-48a9-94a6-581474d6ebc8
van Meurs, J.
0eeaf66b-f4ac-4384-930b-cb8ee7ea708a
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 and Rheumatism, 63 (3), .
(doi:10.1002/art.30169).
(PMID:21360499)
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.
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Published date: March 2011
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Medicine
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Local EPrints ID: 177059
URI: http://eprints.soton.ac.uk/id/eprint/177059
ISSN: 0004-3591
PURE UUID: fdf65f4f-954d-40aa-bc89-8cd741c912bd
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Date deposited: 14 Mar 2011 15:44
Last modified: 18 Mar 2024 02:45
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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:
T.D. Spector
Author:
A. Valdes
Author:
J. van Meurs
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