Jahan Parveen, Ramachander V R Vinish, Maruthi G, Nalini S, Latha K Prasanna, Murthy T S R
Department of Genetics, Osmania University, Hyderabad, 500 007, AP, India,
Tumour Biol. 2014 Apr;35(4):3785-91. doi: 10.1007/s13277-013-1501-9. Epub 2013 Dec 13.
Breast cancer is the most common female neoplasm that drives the transformation of normal mammary epithelial cells into highly malignant derivatives. Forkhead Box Protein3 (Foxp3), a tumor suppressor/immunomodulatory gene, which controls the function of Treg cells and oncogenes is down regulated in breast cancer. The main aim of the present study is to evaluate the potential influence of Foxp3-3279 C>A polymorphism (rs3761548) and -2383 C>T polymorphism (rs3761549) in 202 breast cancer patients and 130 normal healthy women of Indian origin. The genotypes were determined using ARMS-PCR for rs3761548 and PCR-RFLP method for rs3761549 using specific primers. The results revealed lack of association of these two polymorphisms with breast cancer susceptibility. However, with respect to AA genotype of rs3761548, we found highly significant association with the advanced stage (T3-4) of the tumor (OR = 3.90; 95% confidence interval (CI) = 1.56-9.70; p = 0.03). Stratified data also revealed an association of homozygous mutant genotype with advanced stage of tumor in premenopausal women (OR = 4.56; 95% CI = 1.07-19.38; p = 0.04) with disease duration of <6 months (OR = .10; 95% CI = 1.80-20.50; p = 0.002) suggestive of modulating effect of rs3761548 in tumor progression. We conclude that Foxp3 rs37161548 has a potential to be a polymorphic marker for tumor progression in premenopausal breast cancer patients in Indian women.
乳腺癌是最常见的女性肿瘤，它促使正常乳腺上皮细胞转变为高度恶性的衍生物。叉头框蛋白3（Foxp3）是一种肿瘤抑制/免疫调节基因，可控制调节性T细胞的功能，在乳腺癌中该基因表达下调。本研究的主要目的是评估Foxp3 - 3279 C>A多态性（rs3761548）和 - 2383 C>T多态性（rs3761549）对202例印度裔乳腺癌患者和130名正常健康女性的潜在影响。使用针对rs3761548的扩增阻滞突变系统聚合酶链反应（ARMS-PCR）和针对rs3761549的聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法，通过特异性引物确定基因型。结果显示这两种多态性与乳腺癌易感性无关。然而，对于rs3761548的AA基因型，我们发现其与肿瘤晚期（T3 - 4）高度相关（比值比（OR）= 3.90；95%置信区间（CI）= 1.56 - 9.70；p = 0.03）。分层数据还显示，绝经前女性中纯合突变基因型与肿瘤晚期相关（OR = 4.56；95% CI = 1.07 - 19.38；p = 0.04），疾病持续时间<6个月（OR = 8.10；95% CI = 1.80 - 20.50；p = 0.002），提示rs3761548对肿瘤进展有调节作用。我们得出结论，Foxp3 rs37161548有可能成为印度女性绝经前乳腺癌患者肿瘤进展的多态性标志物。
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