title: Association of polymorphisms of programmed cell death-1 gene with chronic hepatitis B virus infection.
abstract: Programmed cell death-1 (PD-1) plays a critical role in regulating T-cell function during hepatitis B virus (HBV) infection. The present study investigated the relationships between the polymorphisms of the PD-1 gene and the susceptibility to chronic HBV infection. Single nucleotide polymorphisms (SNPs) in PD-1 gene at positions -606G/A (PD-1.1) and +8669 G/A (PD-1.6) were analyzed by bidirectional PCR amplification of specific alleles (Bi-PASA) in 198 chronic HBV patients and 280 controls. Although the genotype and allele frequencies of PD-1.1 were not different between chronic HBV patients and controls, the genotype and allele frequencies of PD-1.6 were significantly different. PD-1.6 GG genotype and the combination of genotypes with G allele were less frequent in HBV patients than in controls (p = 0.007 and p = 0.031, respectively). The allele G was also less frequent in patients than in controls (p = 0.006). Haplotype PD-1.1G/PD-1.6G was less frequent in patients than in controls (p = 0.001). Cirrhosis patients had a lower frequency of PD-1.6 G allele compared with controls (p = 0.007). Our findings, firstly reporting the association between PD-1 polymorphism and HBV infection, suggest that PD-1 gene may be one of the genes predisposing to chronic HBV infection and disease progression.
authors.affiliation: Department of Infectious Diseases, First Affiliated Hospital, School of Medicine, Xi'an Jiaotong University, Xi'an, Shaanxi Province, People's Republic of China.
authors.forename: Guoyu
authors.initials: G
authors.lastname: Zhang
authors.forename: Zhengwen
authors.initials: Z
authors.lastname: Liu
authors.forename: Shaoqiong
authors.initials: S
authors.lastname: Duan
authors.forename: Qunying
authors.initials: Q
authors.lastname: Han
authors.forename: Zhu
authors.initials: Z
authors.lastname: Li
authors.forename: Yi
authors.initials: Y
authors.lastname: Lv
authors.forename: Jinghong
authors.initials: J
authors.lastname: Chen
authors.forename: Sai
authors.initials: S
authors.lastname: Lou
authors.forename: Na
authors.initials: N
authors.lastname: Li
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000483:Alleles; D015703:Antigens, CD / Q000235:genetics*; D051017:Apoptosis Regulatory Proteins / Q000235:genetics*; D044466:Asian People / Q000235:genetics; D002681:China; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006239:Haplotypes; D006515:Hepatitis B virus / Q000472:pathogenicity; D019694:Hepatitis B, Chronic / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D061026:Programmed Cell Death 1 Receptor; D055815:Young Adult
chemical_list: D015703:Antigens, CD; D051017:Apoptosis Regulatory Proteins; C105992:PDCD1 protein, human; D061026:Programmed Cell Death 1 Receptor