[Association between polymorphism in DVWA and IL-1beta and Kashin-Beck disease].
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.
Y U
Min
M
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.
Guo
Xiong
X
Gao
Xiao-Yun
XY
Lai
Jiang-Hua
JH
Tu
Qian-Qian
QQ
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
C531065:COL6A4P1 protein, human; D024142:Collagen Type VI; D053583:Interleukin-1beta