摘要
目的研究细胞色素P4501B1基因外显子2密码子119(G-T)、外显子3密码子432(C-G)多态性与子宫内膜癌遗传易感性的关系。方法采用等位基因特异性聚合酶链反应(AS-PCR)法对72例子宫内膜癌患者和80例对照者进行CYP1B1基因密码子119(G-T)、密码子432(C-G)突变分析,用SP免疫组化法进一步研究雌激素受体(ER)、孕激素受体(PR)的表达是否受CYP1B1基因多态性的影响。结果CYP1B1基因密码子119、432中等位基因G、T和C、G在子宫内膜癌组和对照组分布的差异有显著性(χ2=16.817,P=0.000;χ2=9.133,P=0.003),其中等位基因T、G使患子宫内膜癌危险性分别增加了3.052和2.213倍。CYP1B1基因密码子119G/T各基因型分布两组间有显著性差异(χ2=18.267,P<0.01),纯合突变T/T、G/G基因型、杂合突变G/T、C/G基因型与野生G/G、C/C基因型相比,患子宫内膜癌的危险度分别提高了4.258、3.871倍和3.235、2.214倍。此外,119T/T、G/T基因型、432G/G、C/G基因型者ER阳性表达率高于119G/G、432C/C野生基因型,有显著性差异(χ2=6.750,P=0.034;χ2=6.977,P=0.031)。结论CYP1B1基因密码子119、432突变等位基因与子宫内膜癌的发生有一定关联,突变基因型增加了子宫内膜癌的发病风险,且与ER的表达相关。
Objective To study the association between gene polymorphism of cytochrome P450 1B1（CYP1B1） in exon 2 codon 119 （C-T） , exon 3 codon 432 （C-C） and the susceptibility to endometrial cancer. Methods Using allele-specific polymerase chain reaction method to analyze gene polymorphism in exon 2 codon i 19 （G-T） , exon 3 codon 432 （C-G） of CYP1B1 in 72 cases of endometrial cancer and 80 cases control. Using immumohistochemical way SP to investigated whether the expression of estrogen receptors （ER）, progesterone receptor are influenced by the CYP1B1 genotypes in endometrial cancer. Results The frequency of allel C, T on codon 119C/T ,allel C,C on codon 432C/C of CYP1B1 gene showed significant difference between the endometrial cancer group and control group （χ^2=16.817, P=-0.000;χ^2=9.133, P=-0.003）, with an odds rate of 3.052 and 2.213. Statistically significant difference in the frequency of genotype C/C, G/T, T/T and C/C, C/G, G/G was observed between the two groups （χ^2=16.115, P=0.000 ;χ^2=7.644, P=0.022）. Compared with wild-type G/C, C/C, the susceptibility of endometrial cancer with the genotypes of homozygotic mutation T/T, G/G and heterozygotic mutation G/T, C/G was increased by 4.258, 3.871 and 3.235, 2.214 respectively. Moreover, the positive expression of ER in genotype T/T, C/T and G/C, C/G was higher than wild genotype G/C, C/C, there was a significant difference （χ^2=6.750, P=0.034;χ^2=6.977, P=0.031 ）. Conclusion The gene polymorphism of CYP1B1 in exon 2 codon 119 and exon 3 condon 432 might be genetic susceptible factor of endometrial cancer, the allelic polymorphism of CYP1B1 gene increase the risk of endometrial cancer, and has positive correlation with ER expression.
出处
《中国现代医药杂志》
2008年第7期1-5,共5页
Modern Medicine Journal of China
