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首页> 外文期刊>Chinese journal of digestive diseases >Common single nucleotide polymorphism of hypoxia-inducible factor-1alpha and its impact on the clinicopathological features of esophageal squamous cell carcinoma.
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Common single nucleotide polymorphism of hypoxia-inducible factor-1alpha and its impact on the clinicopathological features of esophageal squamous cell carcinoma.

机译：缺氧诱导因子-1α的常见单核苷酸多态性及其对食管鳞状细胞癌临床病理特征的影响。

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摘要

OBJECTIVE: Angiogenesis is one of the most important molecular events in solid tumor development and growth, in which hypoxia-inducible factor (HIF)-1alpha is a key regulator and plays an important role. Studies have shown that a single nucleotide polymorphism (C1772T) in the HIF-1alpha gene exerts a large effect on the phenotype of human head and neck squamous cell carcinoma and renal cell carcinoma. But the impact of the C1772T polymorphism on the clinicopathological features of human esophageal squamous cell carcinoma (ESCC) remains unknown, and thus it is the main focus of our study. METHODS: The C1772T genotype of 95 ESCC patients and 104 healthy controls were studied by using the polymerase chain reaction and restriction fragment length polymorphism. Mutations were confirmed by direct DNA sequencing. The impact of C1772T on tumor size, invasive depth, lymph node metastasis, distant metastasis, histological grade and TNM stage was also studied. RESULTS: The genotype frequency observed in the patients and controls was 11.58% versus 10.58%, respectively, for genotype C/T (P > 0.05). Genotype T/T was not found in our study. Larger tumors and a higher rate of lymph node metastasis was found for the C/T group. CONCLUSIONS: Although there is no significant difference of genotype distribution between ESCC patients and healthy controls, genotype C/T is associated with larger tumor and higher rate of lymph node metastasis.
机译：目的：血管生成是实体瘤发展和生长中最重要的分子事件之一，其中缺氧诱导因子（HIF）-1α是关键调控因子，并起着重要作用。研究表明，HIF-1alpha基因中的单核苷酸多态性（C1772T）对人头颈部鳞状细胞癌和肾细胞癌的表型有很大影响。但是，C1772T基因多态性对人类食管鳞状细胞癌（ESCC）临床病理特征的影响仍然未知，因此，这是我们研究的重点。方法：采用聚合酶链反应和限制性片段长度多态性研究了95例ESCC患者和104例健康对照者的C1772T基因型。通过直接DNA测序确认突变。还研究了C1772T对肿瘤大小，浸润深度，淋巴结转移，远处转移，组织学分级和TNM分期的影响。结果：在患者和对照组中，基因型C / T的基因型频率分别为11.58％和10.58％（P> 0.05）。在我们的研究中未发现基因型T / T。 C / T组发现肿瘤更大，淋巴结转移率更高。结论：尽管ESCC患者和健康对照者之间的基因型分布没有显着差异，但基因型C / T与更大的肿瘤和更高的淋巴结转移率有关。

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