title: Haplotype analysis of CTLA4 gene and risk of esophageal squamous cell carcinoma in Anyang area of China.
abstract: OBJECTIVE
  To study the effect of cytotoxic T-lymphocyte antigen 4 gene haplotypes to susceptibility of esophageal squamous cell carcinoma.
  
  
  METHODS
  A gender- and age-matched case-control design was used in this study. PCR-RFLP method was used to detect the genotype of CTLA4 in 205 patients and 205 control individuals in the Anyang area. Furthermore, haplotypes were calculated by PHASE2.1 software. Finally, the conditional logistic regression analysis was carried out to analyze the relevance between the risk of ESCC and the genotypes or haplotypes of CTLA4 gene.
  
  
  RESULTS
  The CTLA4 rs231775 and rs4553808 genotypes in patients with ESCC were significantly different from controls (p=0.004, p=0.023, respectively). The AG and AA genotypes of rs231775 were highly correlated with the risk of ESCC (Adjusted OR=2.280, 95%CI=1.433-3.629, p=0.001; Adjusted OR=2.192, 95%CI=1.229-3.911, p=0.008, respectively), and AG genotype of rs4553808 also increased the susceptibility of ESCC (Adjusted OR=1.848, 95%CI=1.220-2.800, p=0.004). Further study suggested that AAG haplotype may enhance the risk of ESCC (Adjusted OR=5.035, 95%CI=1.599-15.860, p=0.005), but GAA haplotype played a protective role (Adjusted OR=0.413, 95%CI=0.251-0.680, p=0.001).
  
  
  CONCLUSIONS
  Our research confirmed that CTLA4 genetic variation was related to ESCC in the Anyang area and GAA haplotype was the protective factor of ESCC.
authors.affiliation: Department of Gastroenterology, Qianfoshan Hospital, Medical College, Shandong University, Jinan City, Shandong Province, China.
authors.forename: Xiao-Li
authors.initials: XL
authors.lastname: Cheng
authors.forename: Tao
authors.initials: T
authors.lastname: Ning
authors.forename: Chang-Qing
authors.initials: CQ
authors.lastname: Xu
authors.forename: Yong
authors.initials: Y
authors.lastname: Li
authors.forename: Bao-Song
authors.initials: BS
authors.lastname: Zhu
authors.forename: Fu-Tao
authors.initials: FT
authors.lastname: Hou
authors.forename: Shi-Yun
authors.initials: SY
authors.lastname: Zhang
authors.forename: Zi-Ping
authors.initials: ZP
authors.lastname: Chen
mesh_terms: D000328:Adult; D000368:Aged; D015703:Antigens, CD / Q000235:genetics*; D060908:CTLA-4 Antigen; D002294:Carcinoma, Squamous Cell / Q000209:etiology / Q000235:genetics*; D002681:China; D004938:Esophageal Neoplasms / Q000209:etiology / Q000235:genetics*; D005260:Female; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D012306:Risk
chemical_list: D015703:Antigens, CD; D060908:CTLA-4 Antigen; C556706:CTLA4 protein, human