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Screening for coeliac disease in 1624 mainly asymptomatic children with type 1 diabetes: is genotyping for coeliac-specific human leucocyte antigen the right approach?
  1. Elisabeth Binder1,
  2. Tilmann Rohrer2,
  3. Christian Denzer3,
  4. Wolfgang Marg4,
  5. Ute Ohlenschläger5,
  6. Heike Schenk-Huber6,
  7. Ulrike Schierloh7,
  8. Heino Skopnik8,
  9. Elke Elisabeth Fröhlich-Reiterer9,
  10. Reinhard W Holl10,11,
  11. Nicole Prinz10,11
  1. 1 Department of Pediatrics, Medical University Innsbruck, Innsbruck, Austria
  2. 2 Department of Pediatrics and Neonatology, Saarland University Hospital, Saarland, Germany
  3. 3 Department of Pediatrics and Adolescent Medicine, University Medical Centre Ulm, Ulm, Germany
  4. 4 Center for Pediatrics and Adolescent Medicine, Prof.-Hess-Kinderklinik, Bremen Mitte Hospital, Bremen, Germany
  5. 5 Department of Pediatrics, University Hospital Frankfurt, Frankfurt, Germany
  6. 6 Westpfalz Klinikum GmbH, Kaiserslautern, Germany
  7. 7 Clinque Pédiatrique, Centre Hospitalier de Luxembourg, Luxembourg, Luxembourg
  8. 8 Department of Pediatrics, Children’s Hospital Worms, Worms, Germany
  9. 9 Department of Paediatrics, Medical University of Graz, Graz, Austria
  10. 10 Institute of Epidemiology and Medical Biometry, Zentralinstitut für Biomedizinische Technik, University of Ulm, Ulm, Germany
  11. 11 German Center for Diabetes Research (DZD), Munich-Neuherberg, Germany
  1. Correspondence to Dr Elisabeth Binder, Department of Pediatrics, Medical University Innsbruck, Innsbruck 6020, Austria; elisabeth.binder{at}


Objectives To investigate the frequency of coeliac disease (CD)-specific human leucocyte antigen (HLA) genotypes in paediatric patients with type 1 diabetes (T1D), who are known to have a higher prevalence of CD than the general population, and to evaluate whether HLA genotyping is a suitable first-line screening method for CD.

Study design The study was a multicentre observational analysis of patients with T1D aged <20 years of whom a subgroup had undergone HLA genotyping. Patient data were retrieved from the Diabetes Prospective Follow-up database, a large diabetes follow-up registry. The present analysis included data from 439 centres throughout Germany, Austria, Switzerland and Luxembourg.

Results In March 2017, the database contained 75 202 patients with T1D (53% male, mean age (SD) 14.6 (4.1) years, mean age at diagnosis 8.8 (4.3) years and mean diabetes duration 5.8 (4.3) years). 1624 patients had undergone coeliac-specific HLA genotyping, of whom 1344 (82.8%) were positive for HLA-DQ2, HLA-DQ8 or both, while 17.2% had no coeliac-specific HLA-markers. 26.6% of at-risk patients had a clinical suspected diagnosis of CD, and 3.6% had biopsy-proven CD.

Conclusions Genotyping for HLA-DQ2, HLA-DQ8 or both is positive in the vast majority (>80%) of patients with T1D. Therefore, screening for coeliac-specific HLA genotypes as a first-line test is not a suitable method to exclude CD in T1D. Regular screening for coeliac-specific antibodies in T1D is still recommended.

  • diabetes
  • gastroenterology
  • immunology
  • screening
  • paediatric practice

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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, NP and RWH collected and researched the data, wrote and edited the manuscript. TR, CD, WM, UO, HS-H, US, HS and EEF-R contributed to data collection and interpretation and edited the manuscript. NP and RWH performed statistical analyses.

  • Funding The DPV initiative is funded by the German Ministry of Education and Research (BMBF) as part of the German Center for Diabetes Research (DZD, grant number: 82DZD0017G). Additional funding was provided by the German Diabetes Association (DDG) and the European Foundation for the Study of Diabetes (EFSD). Furthermore, funding was available from the Innovative Medicines Initiative 2 Joint Undertaking under grant agreement number: 115797 (INNODIA) supported by the European Union’s Horizon 2020 research and innovation programme and ‘EFPIA’, ‘JDRF’ and ‘The Leona M. and Harry B. Helmsley Charitable Trust’.

  • Competing interests None declared.

  • Patient consent Not required.

  • Ethics approval Approved by the local ethics committee of University Ulm, Germany.

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

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