title: [Association between polymorphism in DVWA and IL-1beta and Kashin-Beck disease].
abstract: OBJECTIVE
  To investigate the association between IL-1beta and DVWA gene and Kashin-Beck disease (KBD).
  
  
  METHODS
  Peripheral genomic DNA were extracted from 105 patients with KBD and 98 healthy controls. PCR-RFLP were performed to detect SNP loci of IL-1beta gene and DVWA gene.
  
  
  RESULTS
  The patients with KBD had significantly higher frequency of rs16944 (IL-1beta) locus (chi2 = 24.28, P < 0.001) and single allele frequency of rs16944 (chi2 = 5.683, P = 0.0171) than the healthy controls. There were no significant differences in genotype frequencies,single allele frequencies and haplotypes in rs4685241 and rs1143627 between the patients with KBD and the healthy controls.
  
  
  CONCLUSIONS
  rs16944 (IL-1beta) is associated with KBD.
authors.affiliation: Key laboratory of Environment and Genes Related to Diseases of Ministry of Education, Faculty of Public Health, Medicine College, Xi'an Jiaotong University, Xi'an 710061, China.
authors.forename: Min
authors.initials: M
authors.lastname: Y U
authors.forename: Xiong
authors.initials: X
authors.lastname: Guo
authors.forename: Xiao-Yun
authors.initials: XY
authors.lastname: Gao
authors.forename: Jiang-Hua
authors.initials: JH
authors.lastname: Lai
authors.forename: Qian-Qian
authors.initials: QQ
authors.lastname: Tu
mesh_terms: D000328:Adult; D016022:Case-Control Studies; D024142:Collagen Type VI / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D006801:Humans; D053583:Interleukin-1beta / Q000235:genetics*; D057767:Kashin-Beck Disease / Q000235:genetics*; D008297:Male; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D011544:Pseudogenes
chemical_list: C531065:COL6A4P1 protein, human; D024142:Collagen Type VI; D053583:Interleukin-1beta