HLA genotyping as first-line screening tool for coeliac disease in children with juvenile idiopathic arthritis

Arch Dis Child. 2017 Jul;102(7):607-611. doi: 10.1136/archdischild-2016-311544. Epub 2017 Feb 23.


Objectives: 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.

Patients and interventions: 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.

Results: 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.

Conclusions: 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.

Keywords: Coeliac disease; HLA genotyping; Screening; children; juvenile idiopathic arthritis.

MeSH terms

  • Adolescent
  • Age of Onset
  • Arthritis, Juvenile / economics
  • Arthritis, Juvenile / genetics*
  • Arthritis, Juvenile / immunology
  • Autoantibodies / metabolism
  • Celiac Disease / diagnosis
  • Celiac Disease / economics
  • Celiac Disease / genetics*
  • Celiac Disease / immunology
  • Child
  • Child, Preschool
  • Cost-Benefit Analysis
  • Early Diagnosis
  • Female
  • Genotype
  • Genotyping Techniques / economics
  • Genotyping Techniques / methods
  • HLA-DQ Antigens / genetics*
  • Humans
  • Infant
  • Male
  • Prospective Studies


  • Autoantibodies
  • HLA-DQ Antigens
  • HLA-DQ2 antigen
  • HLA-DQ8 antigen