title: Functional polymorphisms of caveolin-1 variants as potential biomarkers of esophageal squamous cell carcinoma.
abstract: OBJECTIVE
  To investigate the association of caveolin-1 (CAV1) genetic variants (C239A (rs1997623), G14713A (rs3807987), G21985A (rs12672038), T29107A (rs7804372)) with esophageal squamous cell carcinoma (ESCC) susceptibility.
  
  
  METHODS
  A total of 427 patients with ESCC and 427 healthy controls were genotyped using the polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) method.
  
  
  RESULTS
  There were significant differences between patients and controls in distributions of their genotypes and allelic frequencies in G14713A and T29107A polymorphisms. Furthermore, haplotype analysis revealed that haplotypes CAAT and CAGT were associated with high risk for ESCC, while haplotype CGGA was protective against ESCC. Stratified analysis showed the associations between the SNPs (G14713A and T29107A) and ESCC risk were noteworthy among female patients and patients who never smoke or drank alcohol.
  
  
  CONCLUSIONS
  Genetic polymorphisms of CAV1 G14713A and T29107A might affect an individual's susceptibility in developing ESCC, making them efficient potential genetic biomarkers for early detection of ESCC.
authors.affiliation: Department of Gastroenterology, Qianfoshan Hospital, Shandong University , Jinan, Shandong Province , China and.
authors.forename: Shanshan
authors.initials: S
authors.lastname: Wang
authors.forename: Chuanzhen
authors.initials: C
authors.lastname: Zhang
authors.forename: Ying
authors.initials: Y
authors.lastname: Liu
authors.forename: Changqing
authors.initials: C
authors.lastname: Xu
authors.forename: Ziping
authors.initials: Z
authors.lastname: Chen
mesh_terms: D000368:Aged; D001483:Base Sequence; D014408:Biomarkers, Tumor / Q000097:blood*; D002294:Carcinoma, Squamous Cell / Q000097:blood* / Q000235:genetics; D051242:Caveolin 1 / Q000235:genetics*; D017931:DNA Primers; D004938:Esophageal Neoplasms / Q000097:blood* / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length
chemical_list: D014408:Biomarkers, Tumor; D051242:Caveolin 1; D017931:DNA Primers
keywords: Caveolin-1; esophageal squamous cell carcinoma; polymerase chain reaction and restriction fragment length polymorphism; single nucleotide polymorphism