title: Association of programmed death-1 polymorphisms with the risk and prognosis of esophageal squamous cell carcinoma.
abstract: Programmed death-1 (PD-1) is an immunoinhibitory receptor belonging to the CD28 family. This study was designed to investigate the association of PD-1 rs36084323:A>G, rs2227981:C>T, rs2227982:C>T and rs10204525:A>G single nucleotide polymorphisms (SNPs) with the risk and prognosis of esophageal squamous cell carcinoma (ESCC) in a high-incidence population from Northern China. These four SNPs were genotyped by polymerase chain reaction ligase detection reaction (PCR-LDR) method in 584 ESCC patients and 585 healthy controls. The rs2227981:C>T SNP C/T genotype increased the risk of ESCC for the smokers (OR = 1.483, 95% CI = 1.018-2.160) and rs2227982:C>T SNP C/T genotype enhanced susceptibility to ESCC for the females (OR = 1.708, 95% CI = 1.056-2.762). For rs10204525:A>G SNP, A/A genotype was related to increased risk of ESCC (OR = 1.735, 95% CI = 1.086-2.771) overall. Among the 584 ESCC patients, the survival information of 204 ESCC patients was collected. The rs36084323:A>G SNP A/G genotype was associated with lower risk of death in ESCC patients with upper gastrointestinal cancer (UGIC) family history (HR = 0.339, 95%CI = 0.115-0.996). The rs2227982:C>T SNP C/T genotype was associated with lower risk of death in smoker ESCC patients and ESCC patients with UGIC family history (HR = 0.409 and 0.292, 95%CI = 0.194-0.863 and 0.101-0.847). PD-1 rs2227981:C>T, rs2227982:C>T and rs10204525:A>G SNPs might be used as predictive markers of the susceptibility to ESCC for the Han nationality in a high-incidence population from Northern China. PD-1 rs36084323:A>G and rs2227982:C>T SNPs were associated with the prognosis of the Han ESCC patients in this high-incidence region.
authors.affiliation: Hebei Provincial Cancer Institute, The Fourth Hospital of Hebei Medical University, Shijiazhuang, Hebei Province, China.
authors.forename: Rong-Miao
authors.initials: RM
authors.lastname: Zhou
authors.affiliation: Hebei Provincial Cancer Institute, The Fourth Hospital of Hebei Medical University, Shijiazhuang, Hebei Province, China.
authors.forename: Yan
authors.initials: Y
authors.lastname: Li
authors.affiliation: Hebei Provincial Cancer Institute, The Fourth Hospital of Hebei Medical University, Shijiazhuang, Hebei Province, China.
authors.forename: Na
authors.initials: N
authors.lastname: Wang
authors.affiliation: Hebei Provincial Cancer Institute, The Fourth Hospital of Hebei Medical University, Shijiazhuang, Hebei Province, China.
authors.forename: Xi
authors.initials: X
authors.lastname: Huang
authors.affiliation: Hebei Provincial Cancer Institute, The Fourth Hospital of Hebei Medical University, Shijiazhuang, Hebei Province, China.
authors.forename: Shi-Ru
authors.initials: SR
authors.lastname: Cao
authors.affiliation: Hebei Provincial Cancer Institute, The Fourth Hospital of Hebei Medical University, Shijiazhuang, Hebei Province, China. Electronic address: baoenshan@hbydsy.com.
authors.forename: Bao-En
authors.initials: BE
authors.lastname: Shan
mesh_terms: D002294:Carcinoma, Squamous Cell / Q000235:genetics* / Q000473:pathology; D004938:Esophageal Neoplasms / Q000235:genetics* / Q000473:pathology; D006801:Humans; D020641:Polymorphism, Single Nucleotide; D011379:Prognosis; D061026:Programmed Cell Death 1 Receptor / Q000235:genetics*; D012307:Risk Factors
chemical_list: C105992:PDCD1 protein, human; D061026:Programmed Cell Death 1 Receptor
keywords: Programmed death-1; esophageal squamous cell carcinoma; polymorphism; prognosis; risk