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

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CYP17 A2/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.

Single nucleotide polymorphism of estrogen metabolizing genes CYP17、CYP19 and breast cancer susceptibility

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.Resuits 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)10allele 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.