广西扶绥肝细胞癌家系XRCC1基因Arg194Trp多态性与肝细胞癌遗传易患性关系的病例对照研究  

Correlations between XRCC1 Arg194Trp Genetic Polymorphism and Genetic Susceptibility to Hepatocellular Carcinoma in Liver Cancer Family Clusters in Fusui County,Guangxi: A Case Control Study

作　　者：丁飞[1] 谢裕安[2] 

机构地区：[1]杭州师范大学附属医院肿瘤科,浙江省杭州市310015 [2]广西医科大学附属肿瘤医院

出　　处：《中国全科医学》2014年第33期3944-3947,3952,共5页Chinese General Practice

基　　金：国家自然科学基金资助项目(30660204)

摘　　要：目的探讨我国肝细胞癌(HCC)高发地区之一的广西扶绥县HCC家系人群DNA修复基因XRCC1Arg194Trp多态性与HCC遗传易患性的相关性。方法采用病例对照研究方法,选取2003年1月—2011年5月在广西医科大学附属肿瘤医院进行外科手术的扶绥县HCC患者21例(A组)及与其有血缘关系但无HCC的直系亲属55例(B组),选取2011年1—5月与HCC家系无血缘关系的但家庭结构、成员数与HCC家系相似的体检正常者76例(C组)。运用限制性片段长度多态性聚合酶链式反应(PCR-RFLP)的方法分析3组受检者XRCC1基因Arg194Trp多态性,并应用非条件Logistic回归模型分析该位点多态性与HCC遗传易患性的关系。结果通过XRCC1 Arg194Trp基因型检测分型,3组XRCC1 Arg194Trp基因型分布符合Hardy-Weinberg遗传平衡定律(P>0.05);3组XRCC1Arg194Trp〔Arg/Arg(CC基因型)、Arg/Trp(CT基因型)、Trp/Trp(TT基因型)〕分布及等位基因(C、T)频率间有差异(P<0.05);其中A组基因型分布〔CC 14例(66.7%)、CT 4例(19.0%)、TT 3例(14.3%)〕及等位基因频率〔C 32(76.2%)、T 10(23.8%)〕与C组〔CC 16例(21.1%)、CT 46例(60.5%)、TT 14例(18.4%);C78(51.3%)、T 74(48.7%)〕比较有差异(P<0.05)。非条件Logistic回归分析显示,B组CT、TT基因型个体发生HCC的风险分别是CC基因型个体的0.473倍〔95%CI(0.117,1.914),P=0.294〕和0.426倍〔95%CI(0.064,2.858),P=0.380〕。C组CT、TT基因型个体发生HCC的风险分别是CC基因型个体的0.206倍〔95%CI(0.035,1.201),P=0.079〕和0.240倍〔95%CI(0.027,2.168),P=0.204〕。结论本研究尚未发现广西扶绥县HCC家系人群中XRCC1基因Arg194Trp多态性与HCC发病有相关性,但提示CT基因型和TT基因型个体发生HCC的风险可能较CC基因型个体减低。Objective To study the correlations between the Arg194 Trp polymorphism in the DNA repair gene XRCC1 and genetic susceptibility to hepatocellular carcinoma（ HCC） in liver cancer family groups in Fusui county,Guangxi. Methods In this case control study,21 patients with HCC who had surgery in Tumor Hospital Affiliated to Guangxi Medical University from January 2003 to May 2011（ group A）,55 their direct relatives without HCC（ group B）,76 healthy controls who received physical examination from January to May 2011,and had no blood relationship with HCC（ group C） family groups were selected as study subjects,family structure and family numbers of healthy controls were similar to those of HCC family groups. Polymerase chain reaction- restriction fragment length polymorphism（ PCR- RFLP） analysis was used to detect the Arg194 Trp site polymorphism in the gene XRCC1 of cases in three groups,and non- conditional Logistic regression analysis was carried out to analyze the relationship between the Arg194 Trp site polymorphism and susceptibility to HCC. Results According to the genotyping of XRCC1 Arg194 Trp,genotype distribution of XRCC1 Arg194 Trp were consistent with Hardy- Weinberg equilibrium（ P 〉0. 05）. There were significant differences in genotype distribution 〔Arg /Arg（ CC genotype）, Arg /Trp（ CT genotype）,Trp /Trp（ TT genotype） 〕 of XRCC1 Arg194 Trp and allele frequency（ C,T） among three groups（ P 〈0. 05）. There were significant differences in genotype distribution and allele frequency between group A 〔genotype distribution： CC 14 cases（ 66.7%）,CT 4 cases（ 19. 0%）,TT 3 cases（ 14.3%）; allele frequency： C 32（ 76.2%）,T 10（ 23.8%） 〕and group C 〔genotype distribution： CC 16 cases（ 21. 1%）,CT 46 cases（ 60. 5%）,TT 14 cases（ 18. 4%）; allele frequency： C 78（ 51.3%）,T 74（ 48.7%） 〕（ P 〈0.05）. According to non-conditional Logistic regression analysis results,the risk of HCC among cases with CT genotype was 0. 473 tim

关 键 词：肝肿瘤 DNA修复 XRCC1 194密码子 多态性 单核苷酸 疾病遗传易感性 广西[壮族自治区] 

分 类 号：R735.7[医药卫生—肿瘤]