CYP1B1基因多态性与子宫内膜癌易感性的关系

目的研究CYP1B1基因外显子3密码子432（C-G）多态性与子宫内膜癌易感性的关系。方法应用聚合酶链反应-限制性片断长度多态性分析（PCR-RFLP）技术检测76例子宫内膜癌患者和83例对照者的CYP1B1基因密码子432（C-G）位点多态性,并分析CYP1B1基因多态性与子宫内膜癌易感性的相关性。结果CYP1B1基因密码子432中等位基因C、G在子宫内膜癌组和对照组分布的差异有统计学意义（P〈0.05）,其中等位基因G使子宫内膜癌发病风险增加2.24倍。CYP1B1基因密码子432C/G各基因型分布两组间差异有统计学意义（P〈0.05）,纯合突变（G/G）基因型、杂合突变（C/G）基因型与野生（C/C）基因型相比,患子宫内膜癌的危险度分别提高了5.62倍和2.04倍。结论CYP1B1基因Leu432Val多态性与子宫内膜癌的发生有一定的关系,突变基因型增加子宫内膜癌的发病风险。

Association between gene polymorphism of CYP1B1 and susceptibility to endometrial cancer

Objective To study the association between gene polymorphism of cytochrome P450 1B1 in exon 3 codon 432(C-G) and the susceptibility to endometrial cancer.Methods Polymerase chain reaction-restriction fragment length polymorphism was used to detect gene polymorphism in exon 3 codon 432(C-G) of CYP1B1 in 76 cases of endometrial cancer and 83 cases of normal control,and analyze the relationship between gene polymorphism of cytochrome P450 1B1 and the susceptibility to endometrial cancer.Results The frequency of allele C,G on codon 432 C/G of CYP1B1 between the endometrial cancer group and the control group showed a siginificant difference(P<0.05),with an odds of 2.24.There was a siginificant difference in the frequency of genotype C/C,C/G,G/G between the two groups(P<0.05).Compared with wild-type C/C,the susceptibility of endometrial cancer with the genotypes of homozygotic mutation G/G and heterozygote mutation C/G was increased respectively by 5.62 and 2.04.Conclusion The gene polymorphism of cytochrome P450 1B1 in exon 3 codon 432(C-G) is concern with the susceptibility to endometrial cancer.The mutation of CYP1B1 gene increases the risk of endometrial cancer.