title: PD-1 polymorphisms are associated with sporadic breast cancer in Chinese Han population of Northeast China.
abstract: The programmed death-1 (PD-1) is a potent immunoregulatory molecule which is responsible for the negative regulation of T-cell activation and peripheral tolerance. In order to investigate the association between polymorphisms of PD-1 and breast cancer, a case-control study was conducted in Chinese female population consisting of 490 cases with breast cancer and 512 age-matched healthy individuals from Heilongjiang Province of China. Four polymorphisms of the PD-1 gene, including rs36084323 (PD-1.1), rs7421861, rs2227982 (PD-1.9), and rs2227981 (PD-1.5), were selected and genotypes were determined by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). The frequencies of PD-1.1 GG genotype and PD-1.5 CT genotype were significantly lower in cases compared with controls (P = 0.020 and 0.004, respectively), and PD-1.5 CC genotype and C allele had higher frequencies in cases (P = 0.003 and 0.010). In haplotype analysis, we observed that the frequencies of ATTC and GTCT haplotypes were lower in cases than those of in controls (P = 0.0055 and 0.0012, respectively), whereas the GTCC and ATCC haplotypes had higher frequencies in cases (P = 0.0040 and 0.00008037, respectively). Additionally, strong association was showed between PD-1.1 and P53, and haplotype CCTA was associated with ER status. These results primarily suggest that PD-1 gene polymorphisms may affect the breast cancer risk and prognosis in Chinese Han females of Heilongjiang Province in Northeast China.
authors.affiliation: Department of Immunology, Harbin Medical University, Harbin, China. zhanghua@ems.hrbmu.edu.cn
authors.forename: Zhang
authors.initials: Z
authors.lastname: Hua
authors.forename: Dalin
authors.initials: D
authors.lastname: Li
authors.forename: Gao
authors.initials: G
authors.lastname: Xiang
authors.forename: Fengyan
authors.initials: F
authors.lastname: Xu
authors.forename: Guan
authors.initials: G
authors.lastname: Jie
authors.forename: Zhenkun
authors.initials: Z
authors.lastname: Fu
authors.forename: Zhang
authors.initials: Z
authors.lastname: Jie
authors.forename: Pang
authors.initials: P
authors.lastname: Da
authors.forename: Dianjun
authors.initials: D
authors.lastname: Li
mesh_terms: D000328:Adult; D000483:Alleles; D044466:Asian People / Q000235:genetics*; D001943:Breast Neoplasms / Q000208:ethnology / Q000235:genetics* / Q000473:pathology; D016022:Case-Control Studies; D002681:China / Q000208:ethnology; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D061026:Programmed Cell Death 1 Receptor / Q000235:genetics*; D012306:Risk
chemical_list: C105992:PDCD1 protein, human; D061026:Programmed Cell Death 1 Receptor