title: HLA genotyping as first-line screening tool for coeliac disease in children with juvenile idiopathic arthritis.
abstract: Coeliac disease (CD) and juvenile idiopathic arthritis (JIA) often coexist. This association warrants assessment for CD in patients with JIA. We evaluated the clinical relevance and cost-effectiveness of human leucocyte antigen (HLA) genotyping in first-line screening for development of CD in children with JIA.
  
  
  
  95 patients with JIA were screened for CD using CD-specific antibodies. In case of positivity, a small intestinal biopsy was performed to confirm diagnosis. In addition, HLA genotyping was performed. 110 age-matched and sex-matched Caucasian children from the same geographical area served as controls.
  
  
  
  CD was diagnosed in 4 of 95 patients with JIA (4.2%), a rate significantly higher compared with controls (p<0.02) and 14 times higher than in the general population. Twenty-six patients (27.4%) had one of the variants of the risk genotypes. All four patients diagnosed with CD had a HLA-DQ2.5 genotype: one was homozygote, the remainder heterozygote. Twenty-two patients are, judging by their HLA genotypes, at risk of developing CD and require repeated serological screening. None of the 69 patients without HLA-DQ2/DQ8 genotypes had CD-specific antibodies. Screening with HLA genotyping becomes cheaper than screening without after the second determination.
  
  
  
  In our cohort of patients with JIA, lack of HLA-DQ2/DQ8 genotypes identified a majority not at risk of CD in whom repeated serological testing is unnecessary. Genotyping is nowadays the most efficient and cost-effective way to screen for CD risk in JIA.
authors.affiliation: Department of Pediatrics and Adolescent Medicine, Medical University Graz, Graz, Austria.
authors.forename: Andrea
authors.initials: A
authors.lastname: Skrabl-Baumgartner
authors.affiliation: Department of Pediatrics and Adolescent Medicine, Medical University Graz, Graz, Austria.
authors.forename: Almuthe
authors.initials: A
authors.lastname: Christine Hauer
authors.affiliation: Institute of Medical and Chemical Laboratory Diagnostics, Medical University Graz, Graz, Austria.
authors.forename: Wolfgang
authors.initials: W
authors.lastname: Erwa
authors.affiliation: Department of Pediatrics and Adolescent Medicine, Medical University Graz, Graz, Austria.
authors.forename: Jörg
authors.initials: J
authors.lastname: Jahnel
mesh_terms: D000293:Adolescent; D017668:Age of Onset; D001171:Arthritis, Juvenile / Q000191:economics / Q000235:genetics* / Q000276:immunology; D001323:Autoantibodies / Q000378:metabolism; D002446:Celiac Disease / Q000175:diagnosis / Q000191:economics / Q000235:genetics* / Q000276:immunology; D002648:Child; D002675:Child, Preschool; D003362:Cost-Benefit Analysis; D042241:Early Diagnosis; D005260:Female; D005838:Genotype; D060005:Genotyping Techniques / Q000191:economics / Q000379:methods; D006683:HLA-DQ Antigens / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D011446:Prospective Studies
chemical_list: D001323:Autoantibodies; D006683:HLA-DQ Antigens; C053186:HLA-DQ2 antigen; C109756:HLA-DQ8 antigen
keywords: Coeliac disease; HLA genotyping; Screening; children; juvenile idiopathic arthritis