Association between COL9A2 Gln326Arg mutations and the development of intervertebral disc disease in a Chinese population

Genet Mol Res. 2016 Dec 19;15(4). doi: 10.4238/gmr15048958.

Abstract

Intervertebral disc disease is a multifactorial condition, yet disease pathogenesis that can be promoted by a single dominant mutation affecting the expression of susceptibility genes. We performed a case-control study to assess the influence of the COL9A2 Gln326Arg polymorphism on risk of intervertebral disc disease in a Chinese population. Between March 2014 and March 2015, a total of 215 patients and 230 healthy controls were recruited from Binzhou Medical University Hospital. Genotyping of COL9A2 Gln326Arg was carried out using polymerase chain reaction-restriction fragment length polymorphism. Univariate and multivariate logistic regression analyses revealed that the Arg/Arg genotype of COL9A2 Gln326Arg was associated with increased risk of intervertebral disc disease in comparison to the Gln/Gln genotype [crude odds ratio (OR) = 2.25, 95% confidence interval (CI) = 1.12-4.62; adjusted OR = 2.46, 95%CI = 1.20-5.29]. Moreover, the Arg/Arg genotype correlated with an elevated risk of this disease compared to the Gln/Gln + Gln/Arg genotypes (crude OR = 2.21, 95%CI = 1.17-4.30; adjusted OR = 2.42, 95%CI = 1.28-5.51). In conclusion, our results suggest that the COL9A2 Gln326Arg polymorphism contributes to the development of intervertebral disc disease in the Chinese population.

MeSH terms

  • Adult
  • Arginine / genetics
  • Asian People / genetics*
  • Case-Control Studies
  • Collagen Type IX / genetics*
  • Female
  • Genetic Predisposition to Disease
  • Glutamine / genetics
  • Humans
  • Intervertebral Disc Degeneration / genetics*
  • Intervertebral Disc Displacement / genetics*
  • Male
  • Middle Aged
  • Mutation*

Substances

  • COL9A2 protein, human
  • Collagen Type IX
  • Glutamine
  • Arginine

Supplementary concepts

  • Intervertebral disc disease