ERCC1基因多态性与煤工尘肺发病风险相关性研究  

Study on the relationship between ERCC1 gene polymorphism and the risk of coal worker’s pneumoconiosis

作　　者：王福凯 邓豪 杨力 陈洪云 李军[1] 张涛[1,2] WANG Fu-kai;DENG Hao;YANG li;CHEN Hong-yun;LI Jun;ZHANG Tao(School of Public Health,Guizhou Medical University,Guiyang,Guizhou 550025,China;不详)

机构地区：[1]贵州医科大学公共卫生与健康学院,环境污染与疾病监控教育部重点实验室,贵州贵阳550025 [2]贵阳市公共卫生救治中心职业病科,贵州贵阳550004

出　　处：《现代预防医学》2023年第23期4278-4282,4290,共6页Modern Preventive Medicine

基　　金：贵州省科技计划项目(黔科合支撑[2020]4Y152号)。

摘　　要：目的探讨切除修复交叉互补基因1(ERCC1)rs11615、rs2013521和rs3212930位点基因多态性与煤工尘肺(CWP)发病风险的相关性。方法选取2020年1—2021年10月在贵阳市公共卫生救治中心进行职业健康体检和确诊CWP的人群为研究对象,共522例,将其分为健康对照组(120例)、接尘对照组(131例)、CWP壹期组(137例)和CWP贰期组(134例)。分析各组人群肺功能和血常规的变化情况,采用质谱仪对ERCC1 rs11615、rs2013521和rs3212930进行基因分型,比较ERCC1基因各位点基因型与肺功能的关系,应用非条件logistic回归模型对ERCC1基因多态性与CWP发病风险的相关性进行分析。结果各组研究对象的FVC(χ^(2)=34.092,P=0.005)、FEV1(χ^(2)=36.642,P<0.001)、FEV1/FVC(χ^(2)=41.145,P<0.001)、红细胞(H=47.820,P<0.001)、血红蛋白(H=27.934,P<0.001)、血小板计数(H=11.684,P=0.009)、红细胞压积(H=29.965,P<0.001)和血小板压积(H=14.058,P=0.003)差异有统计学意义。与rs11615 GG和GA基因型相比,携带AA基因型的CWP患者FVC(χ^(2)=7.810,P=0.020)和FEV1/FVC(χ^(2)=9.256,P=0.010)更易出现异常;与rs2013521 TT和AA基因型相比,携带TA基因型的CWP患者FEV1/FVC(χ^(2)=6.313,P=0.043)更易出现异常。遗传模型结果显示,ERCC1基因rs3212930位点显性模型中,(AG+GG)基因型(OR=0.56,95%CI:0.37~0.83)携带者患CWP的风险显著低于AA基因型携带者;rs3212930位点隐性模型中,GG基因型(OR=0.15,95%CI:0.03~0.74)携带者患CWP的风险显著低于(AA+AG)基因型携带者。结论CWP可能与机体肺功能异常和血常规水平改变有关;ERCC1基因rs11615和rs2013521多态性可能与CWP肺功能异常有关,rs3212930多态性可能会降低CWP的发病风险。Objective To investigate the relationship between rs11615,rs2013521,and rs3212930 gene polymorphisms of excision repair cross complementary gene 1(ERCC1)and the risk of coal worker’s pneumoconiosis(CWP).Methods A total of 522 people who underwent occupational health examination or were diagnosed with CWP in Guiyang Public Health treatment Center from January 2020 to October 2021 were divided into healthy control group(n=120),dust exposure control group(n=131 cases),CWP phase Ⅰ group(n=137 cases),and CWP phase Ⅱ group(n=134 cases).The changes of pulmonary function and blood routine in each group were analyzed.ERCC1 rs11615,rs2013521,and rs3212930 were genotyped by mass spectrometer.The relationship between ERCC1 gene genotype and pulmonary function was compared.Unconditional logistic regression model was used to analyze the correlation between ERCC1 gene polymorphism and risk of CWP.Results There were significant differences in FVC(χ^(2)=34.092,P=0.005),FEV1(χ^(2)=36.642,P<0.001),FEV1/FVC(χ^(2)=41.145,P<0.001),erythrocyte(H=47.820,P<0.001),hemoglobin(H=27.934,P<0.001),platelet count(H=11.684,P=0.009),hematocrit(H=29.965,P<0.001),and platelet hematocrit(H=14.058,P=0.003)among the three groups,respectively.Compared with rs11615 GG and GA genotypes,CWP patients with AA genotype were more likely to have abnormalities in FVC(χ^(2)=7.810,P=0.020)and FEV1/FVC(χ^(2)=9.526,P=0.010),and CWP patients with TA genotype were more likely to have abnormalities in FEV1/FVC(χ^(2)=6.313,P=0.043)than those with rs2013521 TT and AA genotypes.The results of genetic model showed that in the dominant model of rs3212930 locus of ERCC1 gene,the risk of CWP in(AG+GG)genotype carriers(OR=0.56,95%CI:0.37-0.83)was significantly lower than that in AA genotype carriers,while in the recessive model of rs3212930 locus,the risk of CWP in GG genotype carriers(OR=0.15,95%CI:0.03-0.74)was significantly lower than that in(AA+AG)genotypes.Conclusion CWP may be related to abnormal pulmonary function and changes of blood routine level,rs11615

关 键 词：煤工尘肺 ERCC1基因 肺功能 基因多态性 

分 类 号：R135.2[医药卫生—劳动卫生]