白细胞介素-1的基因单核苷酸多态性对中国汉族人强直性脊柱炎易感性的影响

目的 在中国汉族强直性脊柱炎(AS)患者中,检测白细胞介素(IL)-1基因中的单核苷酸多态性(SNPs).方法 在162例AS患者、58例其他自身免疫性疾病和162名正常对照中,用聚合酶链反应-限制性片段长度多态性方法,对IL-1基因中的rs16944、rs3811058、rs419598、rs315952等4个位点进行基因分型,分析单个位点的等位基因和基因型频率是否与AS的发病相关.结果 在162例AS患者中,IL-1的rs16944、rs3811058、rs419598等3个位点的等位基因C的频率显著性地超过健康对照组(50% vs 36%,58% vs 53%,46% vs 12%,P＜0.05),这些位点的基因多态性与AS的发病有显著相关.结论 IL-1 Rs16944、Rs3811058、Rs419598基因的SNP与中国汉族人群AS之间存在显著的相关性.

The effect of single nucleotide polymorphism in interleukin-1 gene on the susceptibility of ankylosing spondylitis in Chinese Han population

Objective To examine the suscepribility of the single nucleotide polymorphisms(SNPs)in IL-1 gene in Chinese Han population to ankylosing spondylitis (AS). Methods An correlation analysis was performed in a case-control cohort of 162 AS cases, 58 patients with other autoimmune diseases and 162 controls. Four SNPs located in the IL-1 gene (rs16944, rs3811058, rs419598, rs315952) were examined by polymerase chain reaction restriction fragment length polymorphism(PCR-RFLP). Results The frequencies of allele C at position rs16944, rs3811058, rs419598 significantly increased in AS cases VS controls, so did their genotype frequencies (50% vs 36.3%, 57.9% vs 52.8%, 45.7% vs 12.3%, P＜0.05). The SNPs of these sites significantly influenced the prevalence of AS. Conclusion We discover that SNPs of IL-1 gene Rs16944, Rs419598, Rs3811058 is closely related to the occurrence of AS.