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首页> 外文期刊>Cancer epidemiology, biomarkers and prevention: A publication of the American Association for Cancer Research >Aberrant DNA methylation of P16, MGMT, and hMLH1 genes in combination with MTHFR C677T genetic polymorphism in esophageal squamous cell carcinoma.
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Aberrant DNA methylation of P16, MGMT, and hMLH1 genes in combination with MTHFR C677T genetic polymorphism in esophageal squamous cell carcinoma.

机译：食管鳞状细胞癌中P16，MGMT和hMLH1基因的异常DNA甲基化与MTHFR C677T遗传多态性相结合。

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摘要

To explore the role of aberrant hypermethylation of cancer-related genes, such as P16, MGMT, and hMLH1, in the esophageal squamous cell carcinoma (ESCC) as well as its relation to dietary folate intake and MTHFR C677T polymorphism, we conducted a molecular epidemiologic study in China. One hundred and twenty-five histologically confirmed ESCC patients having undergone surgery in the Yangzhong People's Hospital between January 2005 and March 2006 were recruited. The aberrant CpG island hypermethylation of P16, MGMT, and hMLH1 genes could be found in cancer tissues with frequency of about 88.0%, 27.2%, and 3.2%, respectively, and in remote normal-appearing esophageal tissues with frequency of about 36.8%, 11.2%, and 0.0%, respectively. No hypermethylation was found in the normal esophageal tissues from healthy controls. Compared with those patients without lymph node metastasis, MGMT gene showed a higher proportion of hypermethylation in cancer tissues, whereas P16 gene showed a higher proportion of hypermethylation in remote normal-appearing esophageal tissues in patients with lymph node metastasis. A significant association was found between MTHFR C677T genetic polymorphism and CpG island methylation status of MGMT gene. After adjustment for potential confounders, individuals carrying CT or TT genotype have higher frequency of hypermethylation in MGMT gene in cancer tissues, with odds ratio of 3.34 (95% confidence interval, 1.07-10.39) and 3.83 (95% confidence interval, 1.13-12.94), respectively. This study indicated that the aberrant CpG island hypermethylation of cancer-related genes was associated with ESCC and might be a promising biomarker in diagnosis and prognosis.
机译：为了研究癌症相关基因（例如P16，MGMT和hMLH1）的异常甲基化在食管鳞状细胞癌（ESCC）中的作用，以及与饮食中叶酸摄入和MTHFR C677T多态性的关系，我们进行了分子流行病学研究在中国学习。招募了2005年1月至2006年3月在扬中市人民医院接受手术治疗的经组织学证实的ESC患者125例。 P16，MGMT和hMLH1基因异常的CpG岛超甲基化可能在癌组织中发现，频率分别为88.0％，27.2％和3.2％，在偏远正常出现的食管组织中发现的频率为36.8％，分别为11.2％和0.0％。在健康人的正常食管组织中未发现高甲基化。与没有淋巴结转移的患者相比，MGMT基因在癌组织中的高甲基化比例更高，而P16基因在有淋巴结转移的偏远正常食管组织中的甲基化比例更高。发现MTHFR C677T基因多态性与MGMT基因的CpG岛甲基化状态之间存在显着关联。调整潜在混杂因素后，携带CT或TT基因型的个体在癌组织中MGMT基因的高甲基化频率更高，优势比分别为3.34（95％置信区间1.07-10.39）和3.83（95％置信区间1.13-12.94） ）， 分别。这项研究表明，与癌症相关的基因异常的CpG岛甲基化异常与ESCC有关，可能是诊断和预后的有前途的生物标志物。

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