title: Association of a programmed death 1 gene polymorphism with the development of rheumatoid arthritis, but not systemic lupus erythematosus.
abstract: OBJECTIVE
  The expression of autoimmunity in mice deficient in programmed death 1 (PD-1) suggests that PD-1 is a candidate gene involved in the development of human autoimmune diseases such as systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA). We therefore tested the potential association between PD-1 and the development of SLE and RA by conducting case-control genetic-association studies.
  
  
  METHODS
  Ninety-eight SLE patients, 84 RA patients, and sex-matched control subjects for each disease group were recruited and genotyped for a single-nucleotide polymorphism, C+872T, in the human PD-1 gene. The significance of the association of the PD-1 gene with SLE or with RA was analyzed by statistical tests for the difference in genotype distribution between disease and control groups.
  
  
  RESULTS
  The human PD-1 gene was found to be significantly associated with disease development in RA patients, but not SLE patients. The risk of RA development appeared to be significantly increased by carriage of the T allele (odds ratio 3.32, P < 0.0001) or the C/T genotype (odds ratio 3.52, P < 0.00005).
  
  
  CONCLUSIONS
  The PD-1 gene is significantly associated with RA susceptibility, suggesting the possibility that PD-1 may contribute to the pathogenesis of RA.
authors.affiliation: Cathay General Hospital, Taipei, Taiwan.
authors.forename: Shih-Chang
authors.initials: SC
authors.lastname: Lin
authors.forename: Jeng-Hsien
authors.initials: JH
authors.lastname: Yen
authors.forename: Jaw-Ji
authors.initials: JJ
authors.lastname: Tsai
authors.forename: Wen-Chen
authors.initials: WC
authors.lastname: Tsai
authors.forename: Tsan-Teng
authors.initials: TT
authors.lastname: Ou
authors.forename: Hong-Wen
authors.initials: HW
authors.lastname: Liu
authors.forename: Chung-Jen
authors.initials: CJ
authors.lastname: Chen
mesh_terms: D000483:Alleles; D015703:Antigens, CD; D000954:Antigens, Surface / Q000235:genetics*; D051017:Apoptosis Regulatory Proteins; D001172:Arthritis, Rheumatoid / Q000235:genetics*; D003596:Cytosine; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005838:Genotype; D006801:Humans; D008180:Lupus Erythematosus, Systemic / Q000235:genetics*; D008297:Male; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide; D061026:Programmed Cell Death 1 Receptor; D012307:Risk Factors; D013941:Thymine
chemical_list: D015703:Antigens, CD; D000954:Antigens, Surface; D051017:Apoptosis Regulatory Proteins; C105992:PDCD1 protein, human; D061026:Programmed Cell Death 1 Receptor; D003596:Cytosine; D013941:Thymine