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目的:研究核苷酸切除修复基因XPA、XPC、XPD、XPG及Ⅱ相代谢酶基因GSTM1、GSTT1多态与上海市市区人群胆道癌风险的关系。方法:采用全人群病例-对照研究的方法,运用聚合酶链反应-限制性片段长度多态(polymerase chain reaction-restriction fragment length polymorphism,PCR-RFLP)的方法对443例胆道癌患者和845例正常对照进行基因型分析。比较各基因型在病例与对照中分布频率的差异,并探讨其与胆道癌之间的关系。结果:XPD exon10-Asp312Asn和exon23-Lys751Gln多态位点的频率分布在壶腹癌病例和对照之间的差异有统计学意义(P<0.05),调整了年龄、性别、吸烟、胆石症和高血压后,证实Asn/Asn和Gln/Gln基因型可能增加壶腹癌的危险,比值比(odds ratio,OR)分别为32.03和9.33,且趋势检验有统计学意义。未发现其他修复基因多态位点与胆道癌有关联。分层分析显示,GSTM1缺失型可增加女性胆囊癌发生的危险,OR=1.73(95%可信区间:1.06～2.82)。在胆道癌的发生中,GSTM1与部分修复基因存在联合作用。结论:XPD exon10-Asn/Asn基因型和exon23 Gln/Gln基因型可能与壶腹癌的危险性有关。GSTM1缺失型可能增加女性胆囊癌发生的危险,且GSTM1基因型与部分修复基因之间可能存在联合作用。
OBJECTIVE: To study the relationship between polymorphisms of nucleotide excision repair gene XPA, XPC, XPD, XPG and phase Ⅱ GSTM1 and GSTT1 and the risk of biliary tract cancer in urban areas of Shanghai. Methods: A total case-control study was conducted in 443 patients with biliary tract cancer and 845 normal controls using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) Controls were genotyped. The differences of distribution frequencies of each genotype in cases and controls were compared and their relationship with biliary tract cancer was also explored. Results: The frequencies of XPD exon10-Asp312Asn and exon23-Lys751Gln polymorphisms were significantly different between cases and controls (P <0.05), adjusted for age, sex, smoking, cholelithiasis and high Blood pressure confirmed that Asn / Asn and Gln / Gln genotypes may increase the risk of ampullary cancer with odds ratio (OR) of 32.03 and 9.33 respectively, and the trend test was statistically significant. No other repair gene polymorphism sites associated with biliary tract cancer. Hierarchical analysis showed that GSTM1 deletion increased the risk of gallstone cancer in women, OR = 1.73 (95% confidence interval: 1.06-2.82). In the occurrence of biliary tract cancer, GSTM1 and some repair genes play a joint role. Conclusion: The genotypes of exon10-Asn / Asn and exon23 Gln / Gln may be related to the risk of ampullary carcinoma. GSTM1 deletion may increase the risk of gallstone cancer in women, and there may be a synergistic effect between GSTM1 genotype and partial repair genes.