Cookies on this website

We use cookies to ensure that we give you the best experience on our website. If you click 'Accept all cookies' we'll assume that you are happy to receive all cookies and you won't see this message again. If you click 'Reject all non-essential cookies' only necessary cookies providing core functionality such as security, network management, and accessibility will be enabled. Click 'Find out more' for information on how to change your cookie settings.

OBJECTIVE: Lumbar degenerative disc disease (LDD) is a serious social and medical problem which has been shown to be highly heritable. It has similarities with peripheral joint osteoarthritis (OA) both in terms of epidemiology and pathological 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 and differentiation factor 5, has been shown to promote growth and repair of animal disc. Thus the GDF5 gene, we postulated, might play a role in LDD. METHODS: We investigated whether the 5' upstream SNP variant rs143383 was associated with LDD, determined using plain film and MRI to ascertain disc space narrowing and osteophytes, in 5 population cohorts from Northern Europe. RESULTS: Association with the SNP rs143383 was identified in women, with the same risk allele as in knee and hip OA with OR= 1.72 (95% confidence intervals 1.15-2.57, p=0.008). CONCLUSION: Using 5 population cohorts from Northern Europe we have identified a variant in the gene GDF5 as a risk factor for LDD in women. Many more such variants are predicted to exist, but this result throws the spotlight onto the growth and differentiation cellular pathway as a possible route to understanding better the process behind degenerative disc disease.

Original publication




Journal article


Arthritis rheum

Publication Date



Dept Twin Research and Genetic Epidemiology, King's College London, UK.