title: Association between COL9A2 Gln326Arg mutations and the development of intervertebral disc disease in a Chinese population.
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.
authors.affiliation: Department of Joint Surgery, Binzhou Medical University Hospital, Binzhou, China.
authors.forename: T
authors.initials: T
authors.lastname: Meng
authors.affiliation: Department of Joint Surgery, Binzhou Medical University Hospital, Binzhou, China.
authors.forename: Q
authors.initials: Q
authors.lastname: Ren
authors.affiliation: Department of Joint Surgery, Binzhou Medical University Hospital, Binzhou, China.
authors.forename: J M
authors.initials: JM
authors.lastname: Wang
authors.affiliation: Department of Joint Surgery, Binzhou Medical University Hospital, Binzhou, China.
authors.forename: H
authors.initials: H
authors.lastname: Shi
authors.affiliation: Department of Joint Surgery, Binzhou Medical University Hospital, Binzhou, China.
authors.forename: S T
authors.initials: ST
authors.lastname: Zhang
authors.affiliation: Department of Joint Surgery, Binzhou Medical University Hospital, Binzhou, China zhanghuanz55@163.com.
authors.forename: M T
authors.initials: MT
authors.lastname: Liu
mesh_terms: D000328:Adult; D001120:Arginine / Q000235:genetics; D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D024081:Collagen Type IX / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D005973:Glutamine / Q000235:genetics; D006801:Humans; D055959:Intervertebral Disc Degeneration / Q000235:genetics*; D007405:Intervertebral Disc Displacement / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation
chemical_list: C120282:COL9A2 protein, human; D024081:Collagen Type IX; D005973:Glutamine; D001120:Arginine