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Genotyping of coeliac-specific human leucocyte antigen in children with type 1 diabetes: does this screening method make sense?
  1. Elisabeth Binder1,
  2. Martina Loinger1,
  3. Annelies Mühlbacher2,
  4. Michael Edlinger3,
  5. Elisabeth Steichen1,
  6. Dagmar Meraner1,
  7. Lorin Loacker4,
  8. Guenter Weigel4,
  9. Thomas Müller1,
  10. Elke Fröhlich-Reiterer5,
  11. Sabine E Hofer1
  1. 1 Department of Paediatrics, Medical University Innsbruck, Innsbruck, Austria
  2. 2 Center of Blood Transfusion and Immunology, Innsbruck, Austria
  3. 3 Department of Medical Statistics, Informatics, and Health Economics, Medical University Innsbruck, Innsbruck, Austria
  4. 4 Institute of Medical and Chemical Laboratory Diagnostics, Medical University Innsbruck, Innsbruck, Austria
  5. 5 Department of Paediatrics, Medical University Graz, Innsbruck, Austria
  1. Correspondence to Dr Elisabeth Binder, Department of Pediatrics, Medical University of Innsbruck, Anichstrasse 35, Innsbruck 6020, Austria; Elisabeth.Binder{at}


Objectives Due to a high linkage disequilibrium of diabetes and coeliac-specific human leucocyte antigen (HLA) genotypes, the prevalence of coeliac disease (CD) in children and adolescents with diabetes mellitus type 1 (T1D) is much higher than in the general population. Recently, the European Society for Paediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN) revised new screening guidelines in which genotyping for coeliac-specific HLA alleles is recommended for high-risk patients as patients with T1D. The aim of our study was to investigate the frequency and distribution of coeliac-specific HLA genotypes in paediatric patients with T1D.

Study design HLA genotyping was performed on paediatric patients with T1D, recruited at the Medical University Hospital of Innsbruck and Graz. The test was done by PCR. Statistical analysis was performed with IBM-SPSS V.20.

Results In 121 paediatric patients with T1D (52% male), mean age 13.3 (SD 3.9) years, mean age at diabetes diagnosis 7.4 (SD 3.8) and mean diabetes duration of 5.9 (SD 3.3) years, HLA genotyping was conducted. Ninety-two per cent showed positive HLA DQ2 and/or HLA DQ8 genotypes. Thirty-four per cent carried HLA DQ2, 33% were HLA DQ2+DQ8 positive and 25% of the patients showed positive results for HLA DQ8 alone. Only 8% had no coeliac-specific HLA markers. Four (3%) patients were diagnosed with CD.

Conclusions The majority of paediatric patients with T1D has positive coeliac-specific HLA genotypes DQ2 and/or DQ8. Therefore, genotyping for coeliac-specific HLA alleles as a first-line test in patients with T1D as recommended in the ESPGHAN guidelines does not seem reasonable. Screening for coeliac-specific antibodies needs to be performed on a regular basis for patients with T1D.

  • celiac disease
  • Screening
  • Adolescent Health
  • Diabetes
  • Epidemiology

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  • Contributors We confirm that all authors have participated in the concept and design, analysis and interpretation of the data and have approved this submitted version of the manuscript and take full responsibility for the manuscript. EB, SEH, EF-R and ML collected and researched the data, wrote and edited the manuscript, AM, ES, LL, GW, DM and TM contributed to data interpretation and edited the manuscript, ME performed statistical analyses.

  • Competing interests None.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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