雌激素代谢酶CYP17、CYP19单核苷多态性与乳腺癌易感性的相关性分析

Single nucleofide polymorphism of estrogen metabolizing genes CYP17, CYP19 and breast cancer susceptibility

目的初步探讨雌激素代谢酶CYP17和CYP19单核苷多态性与乳腺癌易感性的相关性。方法采用聚合酶链反应-限制性片段长度多态性及短串联重复多态性方法，检测213例乳腺癌患者和430例正常对照CYP17、CYP19单核苷多态性分布。结果乳腺癌患者雌激素代谢酶CYP17A2／A2基因型频率为6．7％，高于对照组的2．4％（P〈0．05），CYP17变异等位基因A2病例组的频率为16．2％，亦明显高于对照组的10．6％（P〈0．05）；乳腺癌患者雌激素代谢酶CYP19（TTTA）10等位基因病例组的频率为12．4％，对照组为8．2％，差异有统计学意义（P〈0．05）。结论CYP17单核苷多态性与乳腺癌易感性相关，A2／A2基因型增加乳腺癌风险；CYP19单核苷多态性与乳腺癌易感性亦相关，CYP19（TTTA）10等位基因变异升高与乳腺癌易感性高度相关。

Objective To investigate the relationship between single nucleotide polymorphism in estrogen metabolizing genes CYP17, CYP19 and breast cancer susceptibility. Methods A case-control study was performed. PCR- base restriction fragment length polymorphism （PCR-RFLP） and short tandem repeat polymorphism （STRP） assay were used to detect the single nucleotide polymorphism of CYP17, CYP19 in 213 breast cancer cases and 430 matched controls. Results CYP17 A2/A2 genotype was found in 6. 7% of breast cancer cases, which was significantly higher （P 〈0. 05） than that in controls （2. 4% ） ; the frequency of A2 allele of CYP17 was 16. 2% in breast cancer cases, which was significantly higher （ P 〈 0. 05 ） than that in controls （ 10. 6% ）. There was also significant difference in the frequency of （TTTA） 10 allele of CYP19 which was 12. 4% in breast cancer cases and 8.2% in controls （P = 0. 02） . Conclusions The allele of CYP17 A2 and CYP19（TTTA） 10 and CYP17 A2/A2 genotype were positively associated with the susceptibility of breast cancer.