COL9A1 gene polymorphism is associated with Kashin-Beck disease in a Northwest Chinese han population

Abstract

Objective: We sought to determine whether genomic polymorphism in collagen IX genes (COL9A) was associated with Kashin-Beck disease (KBD). Methods: Twenty seven single nucleotide polymorphisms (SNPs) in COL9AI, COL9A2 and COL9A3 were genotyped in 274 KBD cases and 248 healthy controls using the Sequenom MassAR-RAY system. Associations between the COL9A polymorphism and KBD risk were detected using an unconditional logistic regression model. Linkage disequilibrium (LD) and haplo-types analysis were performed with the Haploview software. Results: After Bonferroni correction, the frequency distribution of genotypes in rs6910140 in COL9A1 was significantly different between the KBD and the control groups (X2= 16.74, df = 2, P = 0.0002). Regression analysis showed that the allele "C" in SNP rs6910140hada significant protective effect on KBD [odds ratio (OR) = 0.49, 95% confidence interval (CI) = 0.34-0.70, P = 0.0001]. The frequencies of alleles and genotypes in rs6910140 were significantly different among subjects of different KBD stages (allele: X2= 7.82, df=2,P = 0.02, genotype: X2= 14.81, df = 4, P = 0.005). However, haplotype analysis did not detect any significant association between KBD and COL9A1, COL9A2 and COL9A3. Conclusions: We observed a significant association between rs6910140 of COL9A1 and KBD, suggesting a role of COL9A1 in the development of KBD.