CAJ | 학술논문

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.
목적 연구백세포개소(IL)-23R기인단핵감산다태성(SNPs)여중국한족인군강직성척주염(AS)적상관성.방법 선취IL-23R기인SNPs위점rs11209026、rs1343151화rs11209032이급재물리거리상여타문상근적령외3개SNPs위점진행검측;채용취합매련반응(PCR)직접측서법진행기인분형;채용SPSS 13.0연건진행Hardy-Weinberg평형、기인형화등위기인빈솔분석;채용SHEsis연건진행련쇄불평형화단배형분석.결과 rs11209032위점적각기인형분포화rs6677188위점적각기인형여등위기인빈솔분포재병례조화대조조차이유통계학의의(P<0.01);rs6677188화rs11209032존재련쇄불평형관계(D'=0.925,r2=0.561);단배형GAC화단배형GTC재AS환자화건강대조자중적분포차이유통계학의의(p<0.01),기중단배형GAC재AS환자고,이단배형GTC재건강대조자고.결론 IL-23R기인단핵감산다태성여중국한족인군AS상관,IL-23R기인가능시AS적일개역감기인.
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.