白细胞介素-4基因多态性与矽肺易感性的病例对照研究

Case-control study of relationship between polymorphisms of interleukin-4 gene and susceptibility of silicosis

目的 探讨白细胞介素-4（IL-4）（-33、＋45、VNTR、＋429、＋448）位点基因多态性与矽肺易感性的关系.方法 采用整群病例对照研究,病例组为101名Ⅰ期矽肺患者,对照组为与病例年龄相近、同性别、同民族、同一工作地点、累积接尘工龄相近的非矽肺接尘工人121名.采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）法检测IL-4的5个基因位点的基因型并进行分析.结果 两组对象的年龄、累积接尘工龄、吸烟率比较,差异均无统计学意义（P＞0.05）.IL-4（＋429）位点仅存在GA 基因型,未发现GG和AA基因型;IL-4（＋448）位点仅存在CC基因型,未发现CG和GG基因型.病例组IL-4（＋45）位点AA、GG和AG基因型频率分别为55.4%、10.9%和33.7%,与对照组（62.0%、11.6%、26.4%）比较,差异无统计学意义（x2=1.386,P＞0.05）;病例组IL-4（VNTR）位点B1B1、B282和B182基因型频率分别为73.3%、1.0%和25.7%,与对照组（68.6%、1.7%、29.8%）比较,差异无统计学意义（x2=0.580,P＞0.05）;病例组IL-4（-33）位点TY、CC和CT基因型频率分别为55.4%、11.9%和32.7%,与对照组（69.4%、4.1%、26.4%）比较,差异有统计学意义（x2=6.751,P＜0.05）.结论 未发现IL-4（＋45、VNTR）与矽肺患病的关系,未发现IL-4（＋448、＋429）存在多态性现象.IL-4（-33）位点多态性与矽肺患病有关,携带IL-4-33等位基因C的接尘者患矽肺的危险性增加.

Objective To explore the relationship between polymorphisms of interleukin-4 （IL-4）gene （-33,＋45,VNTR,＋429,＋448） and the susceptibility of silicosis. Methods In a case-control study, the case group consisted of 101 patients with silicosis, and was matched with the control group （121 workers without silicosis）, according to the age, sex, nationality, working place, exposure to dust. The polymorphisms of IL-4（five locus） detected by the method of polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP） techniques. Results There was no difference of age, exposure and smoking between case group and control group （P〉0.05）. The two groups had good comparability. Only the GA genotype in the IL-4 （＋429）locus was found, the genotypes of AA and GG were not found. The CC genotype in the IL-4 （＋448） locus was found, the genotypes of CG and GG were not found. The frequencies of AA, GG and AG of IL-4 （＋45） locus in the case and control groups were 55.4%, 10.9%, 33.7% and 62.0%, 11.6%, 26.4%, respectively, there was no the significant difference between case and control groups （P〉0.05）. The frequencies of B1B1, B2B2 and B1B2of IL-4 （VNTR） locus in the case and control groups were 73.3%, 1.0%, 25.7% and 68.6%, 1.7%, 29.8%,respectively, there was no the significant difference between case and control groups （P〉0.05）. The frequencies of TT, CC and CT in IL-4 -33 locus in the case group were 55.4%, 11.9% and 32.7%, which were significantly higher than those （69.4%, 4.1%, 26.4%） in control group （P〈0.05）. Conclusions There was no relationship between IL-4 （＋45,VNTR） genotypes and prevalence of silicosis in this study. The polymorphisms of IL-4（＋448）site were not found which may be related to the race. The relationship between genetic polymorphism of IL-4（-33） locus and silicosis development was found, Workers with IL-4（-33） allele C are susceptible to the silica.