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  • Title: GDF5 single-nucleotide polymorphism rs143383 is associated with lumbar disc degeneration in Northern European women.
    Author: Williams FM, Popham M, Hart DJ, de Schepper E, Bierma-Zeinstra S, Hofman A, Uitterlinden AG, Arden NK, Cooper C, Spector TD, Valdes AM, van Meurs J.
    Journal: Arthritis Rheum; 2011 Mar; 63(3):708-12. PubMed ID: 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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