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Eur Spine J (2006) 15 (Suppl. 3):S317S325DOI 10.1007/s00586-006-0171-3REVIEWGenetics of disc degenerationDanny Chan Youqiang Song Pak Sham Kenneth M. C. CheungReceived: 19 May 2006 / Revised: 2 June 2006 / Accepted: 7 June 2006 / Published online: 4 July 2006
Springer-Verlag 2006Abstract Low back pain from degenerative disc disease (DDD) is one of the most common disorders seenin general and orthopaedic practices. DDD has beenattributed to the accumulation of environmental factors, primarily mechanical insults and injuries, imposedon the normal aging changes. However, recentstudies have shown an association between geneticinfluences and disc degeneration, with risk of developing DDD quoted to be increased up to six times thatof the general population. It is likely that DDD is acomplex, multifactorial disease determined by theinterplay between gene(s) and the environment. Thisreview focuses on the evidence for genetic disposition,the genes or biological processes that are implicated,and the need to consolidate resources and clarifyphenotype definition to take advantage of the newtechnologies in genetic analysis to enhance ourunderstanding of this condition.Keywords Genetics Genomics Genes Mutations
Intervertebral disc degeneration Degenerative discdiseaseIntroductionLow back pain (LBP) from degenerative disc disease(DDD) is one of the most common disorders seen ingeneral and orthopaedic practices. As many as one outof three consultations in general practice are related toLBP. It is a significant cause of work related sick leaveand results in loss of working hours to the detriment ofall industrialized societies.Degenerative disc disease has been attributed to theaccumulation of environmental factors, primarilymechanical insults and injuries, imposed on the normal aging changes. Such factors include occupation,sporting activities, spinal injuries, cigarette smokingand atherosclerosis. Numerous studies of these exposures have produced mixed findings related to thepresence and degree of association with disc degeneration [10, 21, 22, 37, 48, 50, 51]. In contrast, a numberof studies have shown an association between geneticinfluences and disc degeneration [6, 7, 39, 47, 53]. Astudy of monozygotic twins with different environmental backgrounds showed that disc degenerationmight be explained primarily by genetic influences [7].The commonly implicated environmental factors hadonly very modest effects. Another study on a largepopulation twin sample have shown quantitative measures of disc degeneration to have a large geneticcomponent [53]. Indeed, a number of studies haveidentified specific genetic risk factors (genes) associated with DDD [1], with risk of developing DDDD. Chan Y. SongDepartment of Biochemistry, The University...