CYP2D6遗传多态性与肺癌易感性关系的研究

Genetic polymorphism of CYP2D6 and its relation to lung cancer susceptibility

目的 探讨CYP2D6Ch基因多态性的频率分布 ,以及与肺癌的遗传易感性关系。方法 应用病例 对照研究及PCR RFLP等技术 ,检测肺癌及正常对照各 5 0例的CYP2D6Ch基因型 ,并应用Logistic回归分析基因多态性与肺癌易感性的关系。结果 (1)CYP2D6ChT/T型 (突变型 )频率在病例组中为 36 .0 % ,在对照组中为 5 0 .0 % ;非T/T型 (即C/C合并C/T基因型 )与肺癌风险临界升高相关 (OR =3.0 6 ;95 %CI=0 .94～ 9.92 )。 (2 )对病例组进行相关变量的分层分析后发现 ,在肺鳞癌 ,或轻度吸烟组中 ,CYP2D6Ch非T/T型与肺癌风险升高显著相关 (分别为 :OR =3.2 0 ,CI =1.0 4～ 9.85 ;OR =7.0 7,CI =1.16～ 4 2 .85 )。结论 本文提示CYP2D6Ch基因型分布规律与欧美人群差异较大 ,且T/T型在肺鳞癌或轻度吸烟者中可作为保护因素而降低肺癌的易感性。

Objective To investigate the cytochrome P450 2D6 (CYP2D6) gene polymorphism distribution and to evaluate its relation to lung cancer susceptibility in Chinese. Methods The case-control study was conducted among 50 lung cancer cases and 50 healthy controls. PCR-RFLP was used to identify CYP2D6 genotypes and logistic regression was used to analyze the relationship between genetic polymorphism and lung cancer susceptibility.Results (1) The frequency of CYP2D6ChT/T were 36.0% in lung cancer cases and 50.0% in control group;Non-T/T genotype (C/C and C/T combined) was associated with borderline increased risk to lung cancer (OR=3.06;95% CI=0.94-9.92). (2)Stratification analysis revealed that non-T/T genotype was associated with significant increased risk in squamous cell carcinomas subgroup or in light smokers group with OR=3.20,CI= 1.04 -9.85 and OR=7.07,CI=1.16-42.85,respectively. Conclusion The frequency distribution of CYP2D6Ch in Chinese was different from those of Caucassians. CYP2D6Ch T/T may act as a protective factor in lung squamous cell carcinoma or light-smoker subgroups.