title: Correlations Between COL2A and Aggrecan Genetic Polymorphisms and the Risk and Clinicopathological Features of Intervertebral Disc Degeneration in a Chinese Han Population: A Case-Control Study.
abstract: OBJECTIVE
  This case-control study was designed to evaluate the association of three COL2A1 single nucleotide polymorphism (SNPs) (rs1793953, rs2276454, and rs1793937) and Aggrecan variable number of tandem repeat (VNTR) polymorphisms with the risk and clinicopathological features of intervertebral disc degeneration (IVDD) in a Chinese Han population.
  
  
  METHODS
  Data from 295 IVDD patients (case group) and 324 healthy volunteers (control group) were collected between January 2012 and December 2014. Magnetic resonance examinations were conducted on all included subjects. The frequency distributions of the COL2A1 and Aggrecan polymorphisms were detected using direct sequencing and polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis, respectively.
  
  
  RESULTS
  The genotype and allele frequencies of the COL2A1 genetic polymorphisms (rs1793953 and rs2276454) and the Aggrecan VNTR polymorphisms differed significantly between the case group and the control group (all p < 0.05). The haplotype analysis indicated that the frequencies of ACGL (L, long) and GTCL haplotypes were lower in the case group than in the control group (both p < 0.05). In the case group, the genotype and allele frequencies of the COL2A1 genes, rs1793953 and rs2276454, and Aggrecan VNTR significantly differed in terms of Pfirrmann grades III, IV, and V (all p < 0.05). Personal history of spine sprain or crush injury, history of IVDD in a first-degree relative, and COL2A1 rs2276454 and Aggrecan VNTR presence may be independent risk factors of IVDD (all p < 0.05, odds ratio [OR] >1), whereas tea drinking habit, part-time sports participation, and COL2A1 rs1793953 presence may be protective factors of IVDD (all p < 0.05, OR <1).
  
  
  CONCLUSIONS
  Our study provides evidence that COL2A1 and Aggrecan genetic polymorphisms may be correlated with the risk and clinicopathological features of IVDD in a Chinese Han population, and ACGL and GTCL haplotypes may be protective factors of IVDD.
authors.affiliation: 1 Department of Orthopedic Surgery, Zhongnan Hospital of Wuhan University , Wuhan, P.R. China .
authors.forename: Yu
authors.initials: Y
authors.lastname: Deng
authors.affiliation: 2 Department of Histology and Embryology, Basic Medical School, Wuhan University , Wuhan, P.R. China .
authors.forename: Xin-Ti
authors.initials: XT
authors.lastname: Tan
authors.affiliation: 1 Department of Orthopedic Surgery, Zhongnan Hospital of Wuhan University , Wuhan, P.R. China .
authors.forename: Qiang
authors.initials: Q
authors.lastname: Wu
authors.affiliation: 1 Department of Orthopedic Surgery, Zhongnan Hospital of Wuhan University , Wuhan, P.R. China .
authors.forename: Xin
authors.initials: X
authors.lastname: Wang
mesh_terms: D000328:Adult; D053674:Aggrecans / Q000235:genetics* / Q000378:metabolism; D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D002681:China; D024043:Collagen Type II / Q000235:genetics* / Q000378:metabolism; D005006:Ethnicity / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D007403:Intervertebral Disc / Q000473:pathology; D055959:Intervertebral Disc Degeneration / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D018598:Minisatellite Repeats; D020641:Polymorphism, Single Nucleotide
chemical_list: C508319:ACAN protein, human; D053674:Aggrecans; C499177:COL2A1 protein, human; D024043:Collagen Type II
keywords: Aggrecan; COL2A1; intervertebral disc degeneration; polymorphism; rs1793937; rs1793953; rs2276454; variable number of tandem repeat