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目的探讨KIR3DL1基因单核苷酸多态性与强直性脊柱炎(AS)易感性的关系。方法采用以自然人群为基础的病例对照研究设计,收集125例AS患者和94例对照进行研究,采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)的方法,对KIR3DL1基因rs1049150位点多态性进行检测。采用χ2检验分析基因多态性与AS风险的相关性,并采用单纯病例研究的方法对基因环境交互作用进行分析。结果等位基因和基因型频率在病例组和对照组之间差异均无统计学意义。基因与环境的交互作用分析发现rs1049150位点的基因型与居住噪音环境因素存在交互作用(P=0.021)。结论 KIR3DL1基因rs1049150位点单核苷酸多态性与AS易感性无关联,但在存在居住噪音环境因素时起到效应修饰作用,增加疾病风险。
Objective To investigate the relationship between single nucleotide polymorphism of KIR3DL1 gene and susceptibility to ankylosing spondylitis (AS). Methods A case-control study based on natural population was designed. 125 patients with AS and 94 controls were collected. PCR-RFLP was used to detect the rs1049150 Site Polymorphisms were detected. Chi-square test was used to analyze the association between gene polymorphism and risk of AS, and simple case study was used to analyze the interaction of gene environment. Results There was no significant difference in allele and genotype frequency between case group and control group. Gene-environment interaction analysis found that rs1049150 locus genotypes and living noise environmental factors exist interaction (P = 0.021). Conclusion The single nucleotide polymorphism at rs1049150 of KIR3DL1 gene is not associated with susceptibility to AS, but plays an effect modification effect in the presence of environmental factors of living noise and increases the risk of disease.