The genetics of intervertebral disc degeneration. Familial predisposition and heritability estimation

Joint Bone Spine. 2008 Jul;75(4):383-7. doi: 10.1016/j.jbspin.2007.11.003. Epub 2008 Apr 29.


Objectives: To review current knowledge on heritability of intervertebral disc degeneration (IDD). IDD can contribute to the development of low back pain and acute lumbar radiculopathy. Dramatic change in the current view of risk factors for IDD from one where age and mechanical factors were paramount to the current theory that genetic risk factors are predominant, we thought that it is important to review the studies of the genetic influences on IDD beginning from familial aggregation and heritability estimation and finishing with specific studies of genes associated with IDD.

Methods: A literature-based narrative review of English language medical literature.

Results and conclusions: Prior research has demonstrated the existence of familial predisposition to IDD with generally high heritabilities that range from 34% to 61% in different spine locations. Segregation analysis shows that the mode of inheritance is complex with multiple factors and multiple genes likely involved in intergenerational transmission.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Genetic Predisposition to Disease
  • Humans
  • Intervertebral Disc Displacement / epidemiology
  • Intervertebral Disc Displacement / genetics*
  • Low Back Pain / epidemiology
  • Low Back Pain / genetics*
  • Prevalence
  • Radiculopathy / epidemiology
  • Radiculopathy / genetics*
  • Risk Factors