Sobczuk Anna, Romanowicz Hanna, Fiks Tomasz, Połać Ireneusz, Smolarz Beata
Institute of Polish Mother's Memorial Hospital, ul. Rzgowska 281/289, 93-338 Łódź.
Pol J Pathol. 2009;60(4):163-7.
The cytochrome P450 family (CYPs) enzymes play an important role in the metabolism of environmental carcinogens and of oestrogen and can affect breast cancer risk. We hypothesise that polymorphisms of CYP17 and CYP19 gene can predict higher incidence of breast cancer. In the present work the distribution of genotypes and frequency of alleles of the T/C polymorphism in promoter region of CYP17 and Trp/Arg polymorphism in codon 39 of CYP19 gene in breast cancer women were investigated. The genetic polymorphisms analysis was performed by amplifying DNA by PCR-RFLP methods in 100 sporadic breast cancer cases. The distribution of the genotypes of the T/C polymorphism of CYP17 in patients differed significantly (p < 0.05) from those predicted by the Hardy-Weinberg equilibrium. There were significant differences in the frequencies of alleles between the breast cancer subjects and controls (p < 0.05). However, the distribution of the genotypes of the Trp/Arg polymorphism of CYP19 in both control and patients did not differ significantly (p > 0.05) from those predicted by the Hardy-Weinberg distribution. The results support the hypothesis that the T/C polymorphism of CYP17 gene may be associated with the incidence of breast cancer in women from Lodz region of Poland.
细胞色素P450家族（CYPs）酶在环境致癌物和雌激素的代谢中起重要作用，并可能影响乳腺癌风险。我们假设CYP17和CYP19基因的多态性可预测更高的乳腺癌发病率。在本研究中，调查了乳腺癌女性中CYP17基因启动子区域T/C多态性的基因型分布和等位基因频率，以及CYP19基因第39密码子Trp/Arg多态性情况。采用PCR-RFLP方法扩增100例散发性乳腺癌患者的DNA进行基因多态性分析。CYP17基因T/C多态性在患者中的基因型分布与哈迪-温伯格平衡预测的分布有显著差异（p<0.05）。乳腺癌患者与对照组的等位基因频率存在显著差异（p<0.05）。然而，CYP19基因Trp/Arg多态性在对照组和患者中的基因型分布与哈迪-温伯格分布预测的分布无显著差异（p>0.05）。结果支持以下假设：CYP17基因的T/C多态性可能与波兰罗兹地区女性乳腺癌的发病率有关。
