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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214例乳腺癌患者与204例健康人对照的Fas-670A/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-670A/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s Fas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-670A/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 investigate the relationship between single nucleotide polymorphisms of Fas gene promoter and genetic predisposition of breast cancer. Methods: A case-control study was conducted to genotype Fas-670A / G locus in 214 breast cancer patients and 204 healthy controls using PCR-RFLP and sequencing. And the test results χ2 test. Fas gene expression levels were detected by real-time ELISA. Results: The genotype distributions of Fas-670A / G and breast cancer groups were significantly different from that of the control group. There was significant difference in s Fas gene expression between GG, AA and AG genotypes. The expression of Fas gene in GG genotype was significant Higher than AA, AG genotype individuals. Conclusion: The expression of Fas gene in breast cancer group was significantly increased. The Fas-670A / G polymorphism site was significantly associated with the risk of breast cancer in women through regulating the expression of Fas gene. And GG genotypes enhance the expression of Fas gene and increase the risk of onset.