title: The functional SNP rs3746804 in C20orf54 modifies susceptibility to esophageal squamous cell carcinoma.
abstract: OBJECTIVE
  The aim of the present study was to explore the association of the functional single-nucleotide polymorphism (SNP) rs3746804 in C20orf54 with the susceptibility to esophageal squamous cell carcinoma (ESCC).
  
  
  METHODS
  SNP rs3746804 in C20orf54 was detected by direct sequencing in 434 ESCC patients and 554 healthy controls from Shanxi and Henan Provinces in China, geographically a high incidence area for ESCC. The frequencies and distribution of TT, CT, and CC genotypes of SNP rs3746804 between those 2 cohorts were compared and its association with ESCC was assessed.
  
  
  RESULTS
  For SNP rs3746804 the genotype distribution of CT and CC in ESCC patients both significantly differed from those in healthy controls (p=0.002, 0.001, respectively), while the distribution of TT did not differ significantly between the groups (p=0.757). The ratio of T:C was high in healthy individuals and low in ESCC patients. Compared to genotype CC, both genotypes CT (odds ratio (OR)=0.63, 95% confidence interval (CI) 0.48l-0.826), and CT+TT (OR=0.654, 95% CI 0.507-0.844) were associated with significantly decreased risk for ESCC.
  
  
  CONCLUSIONS
  A close association exists between functional SNP rs3746804 in C20orf54 and susceptibility to ESCC.
authors.affiliation: Central Laboratory, Heping Hospital Affiliated to Changzhi Medical University, Changzhi, China.
authors.forename: Aifang
authors.initials: A
authors.lastname: Ji
authors.forename: Liang
authors.initials: L
authors.lastname: Ma
authors.forename: Jianzhou
authors.initials: J
authors.lastname: Yang
authors.forename: Yanjun
authors.initials: Y
authors.lastname: Xu
authors.forename: Jinsheng
authors.initials: J
authors.lastname: Wang
authors.forename: Changhong
authors.initials: C
authors.lastname: Lian
authors.forename: Yeyu
authors.initials: Y
authors.lastname: Wang
authors.forename: Dan
authors.initials: D
authors.lastname: Li
authors.forename: Wang L
authors.initials: WL
authors.lastname: Dong
authors.forename: Wei
authors.initials: W
authors.lastname: Wu
mesh_terms: D002294:Carcinoma, Squamous Cell / Q000235:genetics*; D002681:China / Q000453:epidemiology; D004247:DNA / Q000302:isolation & purification; D004938:Esophageal Neoplasms / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D055106:Genome-Wide Association Study / Q000379:methods; D060005:Genotyping Techniques / Q000379:methods; D006801:Humans; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*
chemical_list: D026901:Membrane Transport Proteins; C548553:SLC52A3 protein, human; D004247:DNA