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 times the risk of HCC among cases with CC genotype in group B 〔95% CI（ 0. 117,1. 914）,P = 0. 294〕,the risk of HCC among cases with TT genotype was 0. 426 times the risk of HCC among cases with CC genotype in group B 〔95% CI（ 0. 064,2. 858）,P = 0. 380〕,the risk of HCC among cases with CT genotype was 0. 206 times the risk of HCC among cases with CC genotype in group C 〔95% CI（ 0. 035,1. 201）,P = 0. 079〕,the risk of HCC among cases with TT genotype was 0. 240 times the risk of HCC among cases with CC genotype in group C 〔95% CI（ 0. 027,2. 168）,P= 0. 204〕. Conclusion XRCC1 Arg194 Trp genetic polymorphism may not be involved in susceptibility to HCC,but the risk of HCC among cases with CT or TT genotype is lower than that with CC genotype.
出处
《中国全科医学》
CAS
CSCD
北大核心
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)
