ERCC1和ERCC2基因多态性与宫颈癌易感性的相关性研究

目的探究DNA损伤修复基因ERCC1(rs4150407)和ERCC2(rs3136038)基因多态性与宫颈癌易感性的相关性。方法选取2017年3-2018年3月内蒙古医科大学附属医院经过病理检查确诊的85例汉族宫颈癌患者作为实验组,85例同期健康体检汉族女性作为对照组。对所有受检者进行问卷调查以及血样DNA提取,使用Sequenom Mass ARRAY SNP基因检测平台、辅助激光解析电离时间飞行时间质谱仪(MALDI-TOF MS)检测ERCC1(rs4150407)和ERCC2(rs3136038)的基因多态性,Logistic回归分析ERCC1和ERCC2基因多态性与宫颈癌易感性的关系。结果在ERCC1的rs4150407位点,实验组中等位基因G的出现频率(30.00%)明显高于对照组(23.53%),差异有统计学意义(P<0.05)。在ERCC2的rs3136038位点,2组等位基因A和G分布频次比较差异均无统计学意义(P均>0.05)。ERCC1基因的rs4150407位点中AA和AG表型与宫颈癌易感性无相关性,GG表型与宫颈癌的发病具有相关性OR=1.67,95%CI(1.35,1.79),P=0.01]。ERCC2基因的rs3136038位点的TT、CT、CC基因型与宫颈癌的易感性均无明确相关性。结论内蒙古自治区汉族女性ERCC1(rs4150407)表型为GG时具有更高的宫颈癌易感性,ERCC2(rs3136038)的基因多态性与宫颈癌的发病风险无明确相关性。

Study on the correlation between ERCC1 and ERCC2 gene polymorphisms and susceptibility to cervical cancer

Objective It is to investigate the correlation between DNA damage repair genes ERCC1(rs4150407) and ERCC2(rs3136038) gene polymorphisms and cervical cancer susceptibility. Methods Eighty-five Han cervical cancer patients treated and diagnosed by pathology in Affiliated Hospital of Inner Mongolia Medical University from January 2016 to August 2016 were selected as the experimental group, and 85 Han females who had undergone healthy physical examination during the same period were selected as the control group. A questionnaire survey and blood DNA extraction were performed on all subjects. Sequenom Mass ARRAY SNP gene detection platform and Matrix-Assisted Laser Desorption/Ionization Time of Flight Mass Spectrometry(MALDI-TOF MS) were used to detect gene polymorphisms of ERCC1(rs4150407) and ERCC2(rs3136038) genes. The relationship between ERCC1 and ERCC2 gene polymorphisms and susceptibility to cervical cancer was analyzed by Logistic regression. Results At the rs4150407 site of ERCC1, the frequency of allele G in the experimental group(30.00%) was significantly higher than that in the control group(23.53%), and the difference was statistically significant(P<0.05). At the rs3136038 site of ERCC2, there was no significant difference in the distribution frequency of alleles A and G between the two groups(P>0.05). The AA and AG phenotypes in the rs4150407 locus of the ERCC1 gene were not associated with cervical cancer susceptibility, and the GG phenotype was associated with the incidence of cervical cancer OR=1.67, 95%CI(1.35, 1.79), P=0.01]. There was no clear correlation between TT, CT, CC genotypes of ERCC2 gene at rs3136038 and cervical cancer susceptibility. Conclusion ERCC1(rs4150407) of Han women in Inner Mongolia Autonomous Region has a higher susceptibility to cervical cancer when the phenotype is GG. The genetic polymorphism of ERCC2(rs3136038) has no clear correlation with the risk of cervical cancer.