title: Investigation of type 1 diabetes and coeliac disease susceptibility loci for association with juvenile idiopathic arthritis.
abstract: BACKGROUND
  There is strong evidence suggesting that juvenile idiopathic arthritis (JIA) shares many susceptibility loci with other autoimmune diseases.
  
  
  OBJECTIVE
  To investigate variants robustly associated with type 1 diabetes (T1D) or coeliac disease (CD) for association with JIA.
  
  
  METHODS
  Sixteen single-nucleotide polymorphisms (SNPs) already identified as susceptibility loci for T1D/CD were selected for genotyping in patients with JIA (n=1054) and healthy controls (n=3129). Genotype and allele frequencies were compared using the Cochrane-Armitage trend test implemented in PLINK.
  
  
  RESULTS
  One SNP in the LPP gene, rs1464510, showed significant association with JIA (p(trend)=0.002, OR=1.18, 95% CI 1.06 to 1.30). A second SNP, rs653178 in ATXN2, also showed nominal evidence for association with JIA (p(trend)=0.02, OR=1.13, 95% CI 1.02 to 1.25). The SNP, rs17810546, in IL12A showed subtype-specific association with enthesitis-related arthritis (ERA) subtype (p(trend)=0.005, OR=1.88, 95% CI 1.2 to 2.94).
  
  
  CONCLUSIONS
  Evidence for a novel JIA susceptibility locus, LPP, is presented. Association at the SH2B3/ATXN2 locus, previously reported to be associated with JIA in a US series, also supports this region as contributing to JIA susceptibility. In addition, a subtype-specific association of IL12A with ERA is identified. All findings will require validation in independent JIA cohorts.
authors.affiliation: Arthritis Research UK Epidemiology Unit, Manchester Academic Health Science Centre, Stopford Building, The University of Manchester, Manchester, UK. anne.hinks@manchester.ac.uk
authors.forename: Anne
authors.initials: A
authors.lastname: Hinks
authors.forename: Paul
authors.initials: P
authors.lastname: Martin
authors.forename: Edward
authors.initials: E
authors.lastname: Flynn
authors.forename: Steve
authors.initials: S
authors.lastname: Eyre
authors.forename: Jon
authors.initials: J
authors.lastname: Packham
authors.forename: Anne
authors.initials: A
authors.lastname: Barton
authors.forename: Jane
authors.initials: J
authors.lastname: Worthington
authors.forename: Wendy
authors.initials: W
authors.lastname: Thomson
mesh_terms: D001171:Arthritis, Juvenile / Q000235:genetics*; D001327:Autoimmune Diseases / Q000235:genetics*; D016022:Case-Control Studies; D002446:Celiac Disease / Q000235:genetics*; D003922:Diabetes Mellitus, Type 1 / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D020641:Polymorphism, Single Nucleotide