白细胞介素-23R单核苷酸多态性与中国汉族人群强直性脊柱炎的关联分析

目的 研究白细胞介素(IL)-23R基因单核苷酸多态性(SNPs)与中国汉族人群强直性脊柱炎(AS)的相关性.方法 选取IL-23R基因SNPs位点rs11209026、rs1343151和rs11209032以及在物理距离上与它们相近的另外3个SNPs位点进行检测;采用聚合酶链反应(PCR)直接测序法进行基因分型;采用SPSS 13.0软件进行Hardy-Weinberg平衡、基因型和等位基因频率分析;采用SHEsis软件进行连锁不平衡和单倍型分析.结果 rs11209032位点的各基因型分布和rs6677188位点的各基因型与等位基因频率分布在病例组和对照组差异有统计学意义(P<0.01);rs6677188和rs11209032存在连锁不平衡关系(D'=0.925,r2=0.561);单倍型GAC和单倍型GTC在AS患者和健康对照者中的分布差异有统计学意义(p<0.01),其中单倍型GAC在AS患者高,而单倍型GTC在健康对照者高.结论 IL-23R基因单核苷酸多态性与中国汉族人群AS相关,IL-23R基因可能是AS的一个易感基因.

Association between single nucleotide polymorphism in IL-23R gene and ankylosing spondylitis in Chinese Han population

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.