title: Programmed death-1 (PD-1) polymorphisms in Chinese patients with esophageal cancer.
abstract: OBJECTIVE
  Esophageal cancer is an extremely aggressive gastrointestinal malignancy, which appears to result from a complex interplay between genetic and environmental agents. The genetic loci conferring susceptibility have yet to be fully defined. Considering the role of programmed death-1 (PD-1) in immune regulation and tumor pathogenesis, we genotyped three functional single nucleotide polymorphisms (SNPs) in PD-1 in a Chinese population to explore whether these three SNPs confer susceptibility to esophageal cancer.
  
  
  METHODS
  A total of 629 new diagnosed esophageal squamous cell carcinoma (ESCC) cases and 686 controls were recruited for this hospital-based case-control study. Genotyping was performed by the polymerase chain reaction-ligase detection reaction (PCR-LDR) method in all the subjects.
  
  
  RESULTS
  In the recessive model, when the PD-1 rs10204525 AA/AG genotypes were used as the reference group, the GG homozygote genotype was associated with a borderline statistically decreased risk of ESCC [adjusted odds ratio (OR)=0.68, 95% confidence interval (CI)=0.45-1.03, P=0.067]. However, there were no significant associations between the other two SNPs and ESCC risk. Stratified analyses showed that a significantly decreased risk of ESCC associated with PD-1 rs10204525 A>G polymorphism was overt among male and younger patients.
  
  
  CONCLUSIONS
  Our results demonstrate for the first time that the PD-1 rs10204525 polymorphism might contribute to susceptibility of ESCC and may therefore support the hypothesis that genetic variants, influencing T cell activity-associated gene regulation, may modify cancer risk.
authors.affiliation: Department of Microbiology and Immunology, Medical School of Southeast University, Nanjing 210008, China.
authors.forename: Hao
authors.initials: H
authors.lastname: Qiu
authors.affiliation: Department of Cardiothoracic Surgery, The First People's Hospital of Changzhou and The Third Affiliated Hospital of Soochow University, Changzhou 213003, China.
authors.forename: Liang
authors.initials: L
authors.lastname: Zheng
authors.affiliation: Department of Cardiothoracic Surgery, Affiliated People's Hospital of Jiangsu University, Zhenjiang 212009, China.
authors.forename: Weifeng
authors.initials: W
authors.lastname: Tang
authors.affiliation: Department of Microbiology and Immunology, Medical School of Southeast University, Nanjing 210008, China.
authors.forename: Pengfei
authors.initials: P
authors.lastname: Yin
authors.affiliation: Department of Microbiology and Immunology, Medical School of Southeast University, Nanjing 210008, China.
authors.forename: Feng
authors.initials: F
authors.lastname: Cheng
authors.affiliation: Department of Microbiology and Immunology, Medical School of Southeast University, Nanjing 210008, China. Electronic address: lxwang@seu.edu.cn.
authors.forename: Lixin
authors.initials: L
authors.lastname: Wang
mesh_terms: D000368:Aged; D044466:Asian People; D002294:Carcinoma, Squamous Cell / Q000453:epidemiology / Q000235:genetics*; D016022:Case-Control Studies; D004938:Esophageal Neoplasms / Q000453:epidemiology / Q000235:genetics*; D000077277:Esophageal Squamous Cell Carcinoma; D005260:Female; D005770:Gastrointestinal Neoplasms / Q000453:epidemiology / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics
keywords: Esophageal cancer; Molecular epidemiology; PD-1; Polymorphisms; Susceptibility