title: Case-control Association Study of Autoimmunity Associated Variants in PDCD1 and Juvenile Idiopathic Arthritis.
abstract: OBJECTIVE
  Variants in the gene encoding Programmed Cell Death-1 (PDCD1) have been associated with susceptibility to Systemic Lupus Erythematosus and other autoimmune diseases. Given that clinically distinct autoimmune phenotypes share common genetic susceptibility factors, variants in PDCD-1 were tested for a possible association with Juvenile Idiopathic Arthritis (JIA).
  
  
  METHODS
  Four Single Nucleotide Polymorphisms (SNPS) in the PDCD1 gene were genotyped and analyzed: rs7421861, rs11568821, rs10204525, and rs7568402 in 834 cases and 855 controls of Northern European ancestry. Each variant was examined for possible associations with JIA and then analyzed for association with JIA categories.
  
  
  RESULTS
  PDCD1 variants showed no association with JIA in the cohort overall (rs7421861 p=0.63, rs11568821 p=0.13, rs10204525 p=0.31, and rs7568402 p=0.45). Stratification by JIA categories indicated a significant association between systemic JIA and PDCD1 rs7568402 (OR=0.53, p=0.0027), which remained significant after 10,000 permutations, but was not replicated in an independent multi-ethnic systemic JIA cohort. A nominal association between enthesitis-related arthritis and rs115668821 was also observed (OR=0.22, p=0.012).
  
  
  CONCLUSIONS
  Unlike other multiple autoimmune disease associated genetic variants, there was no association between PDCD1 variants and JIA or JIA categories.
authors.affiliation: Department of Pediatrics Emory University School of Medicine, Atlanta. United States.
authors.forename: Christina
authors.initials: C
authors.lastname: Tejeda
authors.affiliation: Department of Human Genetics, Emory University School of Medicine, Atlanta. United States.
authors.forename: Alaine K
authors.initials: AK
authors.lastname: Broadaway
authors.affiliation: Translational Genetics and Genomics Unit, National Institute of Arthritis and Musculoskeletal and Skin Diseases. United States.
authors.forename: Michael J
authors.initials: MJ
authors.lastname: Ombrello
authors.affiliation: Department of Pediatrics Emory University School of Medicine, Atlanta. United States.
authors.forename: Milton R
authors.initials: MR
authors.lastname: Brown
authors.affiliation: Children's Health Care of Atlanta, Atlanta, GA. United States.
authors.forename: Lori A
authors.initials: LA
authors.lastname: Ponder
authors.affiliation: Department of Pediatrics Emory University School of Medicine, Atlanta. United States.
authors.forename: Mina Rohani
authors.initials: MR
authors.lastname: Pichavant
authors.affiliation: Department of Pediatrics Emory University School of Medicine, Atlanta. United States.
authors.forename: Gabriel
authors.initials: G
authors.lastname: Wang
authors.affiliation: Children's Health Care of Atlanta, Atlanta, GA. United States.
authors.forename: Sheila
authors.initials: S
authors.lastname: Angeles-Han
authors.affiliation: Division of Pediatric Immunology and Rheumatology, University of Utah, Salt Lake City. United States.
authors.forename: Aimee
authors.initials: A
authors.lastname: Hersh
authors.affiliation: Division of Pediatric Immunology and Rheumatology, University of Utah, Salt Lake City. United States.
authors.forename: John
authors.initials: J
authors.lastname: Bohnsack
authors.affiliation: Department of Human Genetics, Emory University School of Medicine, Atlanta. United States.
authors.forename: Karen N
authors.initials: KN
authors.lastname: Conneely
authors.affiliation: Department of Human Genetics, Emory University School of Medicine, Atlanta. United States.
authors.forename: Michael
authors.initials: M
authors.lastname: Epstein
authors.affiliation: Department of Human Genetics, Emory University School of Medicine, Atlanta. United States.
authors.forename: Sampath
authors.initials: S
authors.lastname: Prahalad
mesh_terms: D001171:Arthritis, Juvenile / Q000235:genetics*; D001327:Autoimmune Diseases / Q000235:genetics; D015551:Autoimmunity / Q000235:genetics; D016022:Case-Control Studies; D002648:Child; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D008297:Male; D020641:Polymorphism, Single Nucleotide; D061026:Programmed Cell Death 1 Receptor / Q000235:genetics*
chemical_list: C105992:PDCD1 protein, human; D061026:Programmed Cell Death 1 Receptor
keywords: Juvenile arthritis; PDCD1; association; genetics; juvenile idiopathic arthritis; single nucleotide polymorphisms