Genetic Association in the Pathophysiology of Degenerative Cervical Disc Disease: Defining Roles

Degenerative cervical myelopathy (DCM), encompassing cervical spondylotic myelopathy and posterior longitudinal ligament ossification, is now being documented frequently and significantly burdening the health care systems. The pathogenesis of DCM remains somewhat obscure, and the focus is now on identifying the role of genetic risk factors. Identifying these risk factors is essential for formulating future studies for novel preventive and therapeutic measures.

In a cohort study, we evaluated the genetic association of two genes involved in the pathophysiology of DCM, that is, COL11A1 (single-nucleotide polymorphism [SNP] rs1337185) and ADAMTS5 (SNP rs162509).

A total of 60 subjects (27 with DCM and 33 without DCM) were included. The primary and minor allelic frequencies were evaluated and compared between the cohorts. Significant association was found for SNP rs162509 of gene ADAMTS5 for DCM (odds ratio [OR] 2.5375, 95% confidence interval [CI] 0.655-9.89, p  = 0.177), whereas no conclusive relation was found for SNP rs1337185 of the COL11A1 gene (OR 0.93, 95% CI 0.24-3.68, p  = 0.91).

Preliminary data from our study identify a probable association of two candidate genes, which play a pivotal role in the matrix synthesis and degradation. The complex etiopathogenesis of DCM may be guided by alterations in these genes and mediated through the altered gene products. Further studies are needed to substantiate and validate this.