Impacts of the mTOR gene polymorphisms rs2536 and rs2295080 on breast cancer risk in the Chinese population.
Impacts of the mTOR gene polymorphisms rs2536 and rs2295080 on breast cancer risk in the Chinese population.
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DOI：
10.18632/oncotarget.11272
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发表时间：
2016-09-06
期刊：
影响因子：
--
通讯作者：
Dai Z
中科院分区：
文献类型：
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作者：
Zhao Y;Diao Y;Wang X;Lin S;Wang M;Kang H;Yang P;Dai C;Liu X;Liu K;Li S;Zhu Y;Dai Z
哺乳动物雷帕霉素靶蛋白（mTOR）基因多态性对转录活性的调节和miRNA的结合或剪接产生主要影响，可能通过影响mTOR基因表达而与癌症风险相关。然而，以前曾报道过不一致的结果。本研究评估了mTOR rs 2536/rs 2295080多态性与乳腺癌风险的相关性。采用病例对照研究方法，对西北地区560例乳腺癌患者和583例健康对照者进行研究。通过Sequenom MassARRAY对mTOR多态性（rs 2536和rs 2295080）进行基因分型。我们用比值比（OR）和95%置信区间（95%CI）评估了相关性。本研究未发现mTOR rs 2536多态性与乳腺癌风险的相关性（P > 0.05）。mTOR rs 2295080基因多态性在等位基因、共显性和隐性模型中均与乳腺癌发生风险相关（P < 0.05）。我们检测到rs 2536多态性与乳腺癌患者的临床参数之间没有显著相关性，而rs 2295080多态性与淋巴结（LN）转移相关。Crs 2536 Grs 2295080单倍型与乳腺癌发病风险显著降低相关（P < 0.05）。综上所述，mTOR rs 2295080基因多态性对中国人群乳腺癌易感性具有保护作用，而rs 2536基因多态性与乳腺癌风险无关。
Mammalian target of rapamycin (mTOR) gene polymorphisms exert the major effects on the regulation of transcriptional activity and miRNA binding or splicing, which may be associated with cancer risk by affecting mTOR gene expression. However, inconsistent results have been previously reported. The present study evaluated the correlation between mTOR rs2536/rs2295080 polymorphisms and breast cancer risk. This case-control study was performed with 560 breast cancer patients and 583 healthy controls from the northwest of China. mTOR polymorphisms (rs2536 and rs2295080) were genotyped by Sequenom MassARRAY. We assessed the associations with odds ratios (ORs) and 95% confidence intervals (95% CIs). The association between mTOR rs2536 polymorphism and breast cancer risk was undetectable in our study (P > 0.05). In parallel, the significant effects were observed between mTOR rs2295080 polymorphism and breast cancer risk in the allele, codominant, and recessive models (P < 0.05). We detected no significant correlations between rs2536 polymorphism and the clinical parameters of breast cancer patients, while rs2295080 polymorphism was associated with lymph node (LN) metastasis. The Crs2536Grs2295080 haplotype was correlated with a significantly decreased risk of breast cancer (P < 0.05). In sum, the findings suggested that mTOR rs2295080 had a protective role on breast cancer susceptibility among Chinese population, while rs2536 polymorphism had no association with breast cancer risk.