title: Functional SNPs in human C20orf54 gene influence susceptibility to esophageal squamous cell carcinoma.
abstract: OBJECTIVE
  C20orf54, also known as a human riboflavin transporter 2 (RFT2), encodes an open reading frame protein RFT2 newly identified to play an important role in esophageal carcinogenesis by modulating riboflavin uptake. Missense cSNPs on exon 3,1172 C>A (T391M) and 1246A>G (I416V) have been suggested to modulate protein expression. The aim of present study was to explore the association of C20orf54 functional SNPs with susceptibility to esophageal squamous cell carcinoma (ESCC) in a northern Chinese population.
  
  
  METHODS
  240 patients with ESCC and 198 healthy individuals without overt cancer were chosen as our experimental subjects. Information about family address, sex, age, BMI, smoking and drinking habits and family history of cancer were collected. Blood samples were taken from all subjects and tumor tissues were freshly sampled from resected specimens. After DNA was extracted and amplified, the C20orf54 SNPs were sequenced by ABI 3730XL in BGI China. Frequencies were then calculated and associated with the collected suspicous risk factors.
  
  
  RESULTS
  Drinking status, a family history of ESCC, blood type and BMI were found to have great influence on the risk of developing ESCC. Overall genotype frequencies of the RFT2 SNP 1172 C>A (rs3746803) and 1246A>G (rs3746802) in ESCC patients are significantly different from that in healthy controls (x2=13.10, P=0.001 and x2=7.97, P=0.019, respectively). For RFT2 rs3746803, C/T+T/T genotype did not show a relationship with the risk of ESCC (the age and gender adjusted OR=0.66, 95% CI=0.41-1.05) when using C/C genotype as the reference. For RFT2 rs3746802, the A/G +G/G genotype demonstrated a significantly decreased risk to the development of ESCC (the age and sex adjusted OR=0.53, 95% CI=0.34-0.84) with A/A as the reference.
  
  
  CONCLUSIONS
  The present study suggests that the C20orf54 functional SNPs might be associated with a risk of ESCC development.
authors.affiliation: Changzhi Medical University, Changzhi, China. jiaifang2003099@163.com
authors.forename: Aifang
authors.initials: A
authors.lastname: Ji
authors.forename: Jinsheng
authors.initials: J
authors.lastname: Wang
authors.forename: Jianzhou
authors.initials: J
authors.lastname: Yang
authors.forename: Zibai
authors.initials: Z
authors.lastname: Wei
authors.forename: Changhong
authors.initials: C
authors.lastname: Lian
authors.forename: Liang
authors.initials: L
authors.lastname: Ma
authors.forename: Li
authors.initials: L
authors.lastname: Ma
authors.forename: Jinjing
authors.initials: J
authors.lastname: Chen
authors.forename: Xiaoqi
authors.initials: X
authors.lastname: Qin
authors.forename: Li dong
authors.initials: Ld
authors.lastname: Wang
authors.forename: Wu
authors.initials: W
authors.lastname: Wei
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001483:Base Sequence; D002294:Carcinoma, Squamous Cell / Q000235:genetics*; D016022:Case-Control Studies; D004247:DNA / Q000235:genetics; D004938:Esophageal Neoplasms / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D008875:Middle Aged; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011379:Prognosis; D012307:Risk Factors
chemical_list: D026901:Membrane Transport Proteins; C548553:SLC52A3 protein, human; D004247:DNA