Association between single nucleotide polymorphism in IL-23R gene and ankylosing spondylitis in Chinese Han population / 中华风湿病学杂志

ABSTRACT

Objective To study the single nucleotide polymorphisms (SNPs) in IL-23R gene in Chinese Han population with ankylosing spondylitis (AS). Methods SNPs rs11209026, rs1343151, rs11209032 and another three SNPs near them based on their physical distances were genotyped by PCR-directed sequencing. Hardy-Weinberg equilibrium, genotypes and allele frequency analysis were analyzed by SPSS 13.0. Linkage disequilibrium and haplotype analysis were carried out by SHEsis software. Results The difference of genotypes of rs11209032 and the difference of genotypes and allele frequencies of rs6677188 between patients and controls were statistically significant (P＜O.01) ; The two SNPs rs11209032 and rs6677188 had strong linkage disequlibfium (D'=0.925, r2=0.561 ). Haplotype analysis had shown a higher proportion of GAC haplotype in patients and a higher proportion of GTC haplotype in controls. Conclusion These results suggest that IL-23R polymorphisms is associated with susceptibility to AS in Chinese Han population and IL-23R gene may be a susceptible gene of AS.