Influence of COL9A1 and COL19A1 Polymorphisms on Kaschin-Beck Disease Risk

Abstract Objective We aimed to determine whether COL9A1 and COL19A1 polymorphisms were associated with Kaschin-Beck disease (KBD) risk. Methods Five single nucleotide polymorphisms (SNPs) in COL9A1 and COL19A1 were genotyped in 316 KBD patients and 320 healthy controls using the Agena MassARRAY platform. The association between genetic polymorphisms ( COL9A1 : rs3806093, rs603410 and rs621347; COL19A1 : rs9346371 and rs555313) and KBD risk were assessed using logistic regression model by calculating odds ratio (OR) and 95% confidence interval (CI). Results After adjustment with age and sex, the frequency distributions of genotypes in rs3806093 and rs9346371 were significantly different between cases and controls. COL9A1 rs3806093 significantly increased KBD risk in co-dominant (OR = 14.80, 95%CI = 1.42-154.80, p = 0.024) and recessive (OR = 16.39, 95%CI = 1.60-168.20, p = 0.019) models. Meanwhile, COL9A1 rs555313 was associated with KBD risk in recessive model (OR = 3.80, 95%CI = 1.01-14.27, p = 0.048). In addition, haplotype analysis revealed two blocks (block 1: rs3806093, rs603410 and rs621347; block 2: rs9346371 and rs555313). Conclusion COL9A1 and COL19A1 polymorphisms were associated with KBD risk in the Chinese Han population, suggesting roles of COL9A1 and COL19A1 in the development of KBD.