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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 investigate the relationship between IL-1RA +2018 mutation and susceptibility to silicosis in Han population in Southwest China. Methods Seventy-five patients with silicosis and 137 individuals with silicosis were selected as the study objects. Peripheral venous blood was collected. The mutation of IL-1RA +2018 was detected by real-time PCR quantitative amplification. Results The distribution frequency (28.0%) of IL-1RA + 2018C in silicosis group was significantly higher than that in the silica-exposed group (15.0%) (P <0.01). The distribution of allele C in stage I silicosis patients Frequency (31.8%) was significantly higher than that in the group exposed to silica dust (P <0.01). The distribution frequency of allele C in stage II and III silicosis patients (22.6%) was higher than that in the silica dust exposure group, but there was no significant difference (P <0.01). Logistic regression analysis showed that carriers of IL-1RA + 2018C had a significantly higher risk of silicosis (P <0.01) after adjusting for confounding factors. Conclusions The T → C mutation of IL-1RA gene +2018 locus plays an important role in the genetic factors of silicosis in Southwest China. IL-1RA may be used as a candidate gene to study the susceptibility to silicosis.