[Association between polymorphism in DVWA and IL-1beta and Kashin-Beck disease]

Sichuan Da Xue Xue Bao Yi Xue Ban. 2010 Jul;41(4):669-73.
[Article in Chinese]

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.

Conclusion: rs16944 (IL-1beta) is associated with KBD.

Publication types

  • English Abstract
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Case-Control Studies
  • Collagen Type VI / genetics*
  • Female
  • Gene Frequency
  • Humans
  • Interleukin-1beta / genetics*
  • Kashin-Beck Disease / genetics*
  • Male
  • Polymerase Chain Reaction
  • Polymorphism, Restriction Fragment Length
  • Polymorphism, Single Nucleotide*
  • Pseudogenes

Substances

  • COL6A4P1 protein, human
  • Collagen Type VI
  • Interleukin-1beta