目的：探讨Fas 基因启动子区单核苷酸多态性与乳腺癌遗传易感性的关系。方法：采用病例对照研究，利用PCR-RFLP 和测序的方法对21 例乳腺癌患者与20 例健康人对照的Fas- 0A/G 位点进行基因分型。并对检测结果进行χ2 检验。通过实时ELISA 检测Fas 基因的表达水平。结果：Fas- 0A/G 和乳腺癌群体的基因型分布与对照组有显著差异；GG、AA、AG 基因型个体之间sFas 基因表达水平有显著差异，GG 型个体Fas 基因的表达水平显著高于AA、AG 基因型个体。结论：乳腺癌组中Fas 基因的表达显著增加，Fas- 0A/G 多态性位点通过调节Fas 基因的表达与女性患乳腺癌发病风险显著相关。且GG 基因型增强了Fas 基因的表达，增加了发病风险。

Objective To evaluate the association between polymorphisms in Fas promoter region and susceptibility to breast cancer. Methods In the case-control study, we genotyped Fas-670A/G and Fas-1377A/G by PCR-RFLP in 214 patients with breast cancer and 204 healthy controls. Results were analyzed using Chi-square test. Fas gene expression wwas detected by q-RT-PCR in breast cancer. Results The distribution of Fas-670A/G genotype and allele type was significant difference between the patients and healthy controls. Subjects with GG genotype significantly increased the risk of breast cancer compared with the individuals carrying AA and AG genotype. Fas expression level in subjects with breast cancer was significantly increased compared with the healthy control. And the Fas expression in subjects with GG genotype was significantly higher than that in subjects with AA, GG genotypes. Conclusion Fas expression significantly increased in breast cancer. Fas was regulated by Fas-670A/G and significantly associated with susceptibility to breast cancer. GG genotype enhanced Fas expression and increased the risk to breast cancer.