GDF5 single-nucleotide polymorphism rs143383 is associated with lumbar disc degeneration in Northern European women.

Williams, F; Popham, M; Hart, D; de Schepper, E; Bierma-Zeinstra, S; Hofman, A; Uitterlinden, A; Arden, N; Cooper, C; Spector, T; Valdes, A; van Meurs, J

Journal article

GDF5 single-nucleotide polymorphism rs143383 is associated with lumbar disc degeneration in Northern European women.

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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APA Style

Williams, F., Popham, M., Hart, D., de Schepper, E., Bierma-Zeinstra, S., Hofman, A., Uitterlinden, A., Arden, N., Cooper, C., Spector, T., Valdes, A., & van Meurs, J. (2011). GDF5 single-nucleotide polymorphism rs143383 is associated with lumbar disc degeneration in Northern European women. Arthritis and Rheumatism, 63(3), 708–712.

MLA Style

Williams, F, et al. “GDF5 Single-Nucleotide Polymorphism rs143383 Is Associated with Lumbar Disc Degeneration in Northern European Women.” Arthritis and Rheumatism, vol. 63, no. 3, 2011, pp. 708–12.

Chicago Style

Williams, F, M Popham, D Hart, et al. 2011. “GDF5 Single-Nucleotide Polymorphism rs143383 Is Associated with Lumbar Disc Degeneration in Northern European Women.” Arthritis and Rheumatism 63 (3): 708–12.
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