title: Common single nucleotide polymorphism of hypoxia-inducible factor-1alpha and its impact on the clinicopathological features of esophageal squamous cell carcinoma.
abstract: 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.
authors.affiliation: Department of Gastroenterology, First Affiliated Hospital of Nanjing Medical University, Nanjing, China.
authors.forename: Ting Sheng
authors.initials: TS
authors.lastname: Ling
authors.forename: Rui Hua
authors.initials: RH
authors.lastname: Shi
authors.forename: Guo Xin
authors.initials: GX
authors.lastname: Zhang
authors.forename: Hong
authors.initials: H
authors.lastname: Zhu
authors.forename: Lian Zhen
authors.initials: LZ
authors.lastname: Yu
authors.forename: Xia Feng
authors.initials: XF
authors.lastname: Ding
mesh_terms: D002294:Carcinoma, Squamous Cell / Q000235:genetics* / Q000473:pathology; D004252:DNA Mutational Analysis; D004938:Esophageal Neoplasms / Q000235:genetics* / Q000473:pathology; D005091:Exons; D005260:Female; D005838:Genotype; D006801:Humans; D051795:Hypoxia-Inducible Factor 1, alpha Subunit / Q000235:genetics*; D008297:Male; D020641:Polymorphism, Single Nucleotide
chemical_list: D051795:Hypoxia-Inducible Factor 1, alpha Subunit