Advances in susceptibility genetics of intervertebral degenerative disc disease

Abstract

The traditional view that the etiology of lumbar disc herniation is primarily due to age, gender, occupation, smoking and exposure to vehicular vibration dominated much of the last century. Recent research indicates that heredity may be largely responsible for the degeneration as well as herniation of intervertebral discs. Since 1998, genetic influences have been confirmed by the identification of several genes forms associated with disc degeneration. These researches are paving the way for a better understanding of the biologic mechanisms. Now, many researchers unanimously agree that lumbar disc herniation appears to be similar to other complex diseases, whose etiology has both environmental and hereditary influence, each with a part of contribution and relative risk. Then addressing the etiological of lumbar disc herniation, it is important to integrate heredity with the environment factors. For the purpose of this review, we have limited our discussion to several susceptibility genes associated with disc degeneration.

Keywords: Candidate Genes; Degeneration; Familial Aggregation; Intervertebral disc Disease.

Figure 1

Categories of candidate-genes related to lumbar disc disease. Note COL=Collage; CILP=cartilage intermediate layer protein; MMP=Matrix metalloprotease; IL=interleukin; VDR=Vitamin D receptor; ER=estrogen receptor; Sox9=SRY (sex-determining region Y)-box9 encoding