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APEX1和OGG1基因多态性与人结直肠癌的DNA损伤反应的相关性

The Association of APEX1 and OGG1 Gene Polymorphisms with DNA Damage Response inHumanColorectal Cancer
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摘要 目的探究APEX1和OGG1基因多态性与人结直肠癌的DNA损伤反应的相关性。方法招募2020年3月至2022年12月在保定市第一中心医院胃肠外科和肿瘤科住院治疗的240例结直肠癌患者为研究对象。所有结直肠癌症患者都进行了病理确认。招募同时期在本院体检的300例健康志愿者为对照人员。每位受试者均获得知情同意。从病理档案室和问卷调查中获得病例、志愿者的临床信息。通过Hardy-Weinberg平衡定律预测对照组人群的基因型和等位基因频率。分析所有结直肠癌病例和对照组参与者的基因型分布和优势比。通过在逻辑回归模型中分析多态性与吸烟混杂因素的相互作用。通过计算特定组合的调整后的OR值,对具有一个以上变异等位基因的个体进行结直肠癌风险分析。结果病例与对照组之间在年龄、性别分布、吸烟状况和癌症家族史等一般资料方面差异无统计学意义(P>0.05)。对照组人群中的所有基因型频率与Hardy-Weinberg下预测的一致(P>0.05)。XRCC1399Gln/Gln个体和Arg/Gln基因型患结直肠癌发病风险显著高于Arg/Arg基因型野生型患者。OGG1326Cys和APE1148Glu的变异等位基因显示出有害作用,OR分别为1.23和1.66。对于APE1-141G/G变异等位基因纯合的个体,获得了略微降低的OR(OR=0.58,95%CI 1.73~2.14,P=0.08),表明该等位基因可能会降低结直肠癌的风险,差异无统计学意义(P>0.05)。此外,在病例组和对照组之间OGG1 Ser326Cys和APE1 Asp148Glu的基因型或等位基因分布差异无统计学意义(P>0.05)。对于APE1-141T/G多态性,使用纯合子TT基因型作为参考组,观察到对GG基因型的当前吸烟者有明显的保护作用(OR=0.39,95%CI 0.16~0.88;P=0.04),但在非吸烟者中没有发现这种保护作用。XRCC1399Arg/Gln表现出有害效应,OR=1.66,差异无统计学意义(P>0.05)。结论本研究探讨了DNA碱基切除修复基因(XRCC1,OGG1和APE1)多态性与结直肠癌风险之间� Objective To investigate the correlation between APEX1 and OGG1 gene polymorphisms and DNA damage response in human colorectal cancer.Methods A total of 240 patients with colorectal cancer who were hospitalized in the Department of Gastrointestinal Surgery and Oncology of Provincial People’s Hospital from March,2020 to December,2022 were recruited as study subjects.All colorectal cancer patients were pathologically confirmed.A total of 300 healthy volunteers who underwent physical examination in our hospital during the same period were recruited as controls.Each subject received informed consent.Clinical information of cases and volunteers was obtained from pathology archives and questionnaires.The genotype and allele frequencies of the control population were predicted by Hardy-Weinberg equilibrium law.The genotype distribution and odds ratio of all colorectal cancer cases and control participants were analyzed.The interaction between polymorphism and smoking confounders was analyzed with a logistic regression model.Individuals with more than one variant allele were analyzed for colorectal cancer risk by calculating adjusted OR values for specific combinations.Results There were no significant differences in age,sex distribution,smoking status and family history of cancer between the two groups(P>0.05).The frequencies of all genotypes in the control group were consistent with those predicted by Hardy-Weinberg(P>0.05).The results showed that the risk of colorectal cancer in XRCC1399Gln/Gln individuals and Arg/Gln genotypes was significantly higher than that in wild-type Arg/Arg genotypes.The mutant alleles of OGG1326Cys and APE1148Glu showed deleterious effects with OR of 1.23 and 1.66,respectively.For homozygous individuals with APE1-141G/G variant allele,a slightly reduced OR(OR=0.58,95%CI 1.73-2.14,P=0.08)was obtained,suggesting that the allele could reduce the risk of colorectal cancer,while there was no significant difference(P>0.05).In addition,there were no significant differences in the genotype or alle
作者 陈翼霖 曹辉彩 贺世畅 高艳 王敏 ZHANG Qian CHEN Yilin;CAO Huicai;HE Shichang;GAO Yan;WANG Min;ZHANG Qian(Second Department of Medical Laboratory,Baoding City First Central Hospital,Baoding 071000,China)
出处 《标记免疫分析与临床》 CAS 2024年第6期1060-1067,共8页 Labeled Immunoassays and Clinical Medicine
基金 保定市科学技术计划(编号:2241ZF244)。
关键词 APEX1 OGG1 XRCC1 基因多态性 结直肠癌 APEX1 OGG1 XRCC1 Gene polymorphism Colorectal cancer
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