IL-1RA基因+2018位点突变与矽肺的相关性研究  

Study on association of interleukin-1 receptor antagonist(RA) gene+2018 locus mutation with silicosis

作　　者：王德军[1] 杨跃林[2] 夏庆杰[3] 兰亚佳[4] 王绵珍[4] 韩吉平[5] 杨育林[1] 孔凡玲[1] 

机构地区：[1]山东省疾病预防控制中心,济南250014 [2]四川大学华西第四医院 [3]四川大学华西医院 [4]四川大学华西公共卫生学院 [5]攀枝花钢铁集团劳研所

出　　处：《卫生研究》2006年第6期693-696,共4页Journal of Hygiene Research

摘　　要：目的探讨白细胞介素-1受体拮抗剂基因(IL-1RA)+2018位点突变与中国西南地区汉族人群矽肺易感性的相关性。方法分别选择75名矽肺患者和137名矽尘接触者为研究对象,采集外周静脉血,应用实时荧光定量PCR特异性扩增检测其IL-1RA基因+2018位点突变。结果矽肺组等位基因IL-1RA+2018C的分布频率(28.0%)高于矽尘接触组(15.0%),有统计学差异(P<0.01);其中Ⅰ期矽肺患者等位基因C的分布频率(31.8%)显著高于矽尘接触组(P<0.01),而Ⅱ期和Ⅲ期矽肺患者等位基因C的分布频率(22.6%)虽高于矽尘接触组,但无统计学差异(P<0.01)。校正了混杂因素后,Logistic回归分析发现,IL-1RA+2018C的携带者发生矽肺的风险大大增高(P<0.01)。结论IL-1RA基因+2018位点T→C的突变在中国西南地区汉族矽肺发病的遗传因素中起重要作用;IL-1RA可作为研究矽肺易感性的一个侯选基因。Objective To approach whether ＋ 2018 locus （T→C ） mutation within the interleukin-1 receptor antagonist （IL-1RA） gene promoter region are associated with susceptibility to silicosis in Southwest Chinese Han population. Methods 75 cases of silicosis and 137 silica-exposed workers（being employed） were selected as subjects .5ml peripheral vein blood was drawn from each subject. By real-time quantitative polymerase chain reaction and sequencing techniques, IL-1RA gene mutation of all subjects were analyzed. Results The frequency of IL-1RA ＋ 2018C among the cases with silicosis was higher than that among the silica-exposed workers （controls） （ 28.0% versus 15.0 % , Fisher＇ s exact P 〈 0.01）. The frequency of allelic C was higher in cases with phase I silicosis than in controls（31.8% versus 15.0% , Fisher＇s exact P 〈 0.01 ） . The frequency of allelic C was higher in cases with phase Ⅱ and Ⅲ silicosis than in controls, but which statistic difference being not significant（22.6% versus 15.0%, Fisher＇ s exact P 〈 0.01）. After adjusted for confounding factors, the frequency of IL-1RA ＋ 2018C among silicoses and its subgroups was still higher than among controls, which statistic difference being significant （Fisher＇ s exact P 〈 0.01 ）. Conclusion IL-1RA gene polymorphisms played an important role in making the Han population of Southwest China susceptible to silicosis. IL-1RA might be taked as a gene to be selected for studing the susceptibility of silicosis.

关 键 词：白细胞介素-1受体拮抗剂 基因突变矽肺 

分 类 号：R135.2[医药卫生—劳动卫生] R994.6[医药卫生—公共卫生与预防医学]