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HLA Genotyping in Children With Celiac Disease Allows to Establish the Risk of Developing Type 1 Diabetes

Enrico Schirru1, Rossano Rossino2,3, Daniela Diana4

  • 1Centro Servizi di Ateneo per gli Stabulari (CeSaSt), University of Cagliari, Monserrato, Italy.

Clinical and Translational Gastroenterology
|May 7, 2024
PubMed

Insights

Human leukocyte antigen (HLA) genotyping can predict type 1 diabetes (T1D) risk in celiac disease (CD) patients. Early HLA typing in children with CD may enable proactive T1D prevention and intervention strategies.

Area of Science:

  • Immunogenetics
  • Autoimmune Diseases
  • Pediatric Endocrinology

Background:

  • Celiac disease (CD) and type 1 diabetes (T1D) frequently co-occur, sharing genetic links within the human leukocyte antigen (HLA) class II region.
  • Understanding the interplay between these autoimmune conditions is crucial for risk stratification and management.

Purpose of the Study:

  • To assess the utility of HLA genotyping in predicting T1D development among individuals diagnosed with CD.
  • To investigate the temporal sequence of CD and T1D onset in relation to specific HLA genotypes.

Main Methods:

  • A cohort study involving 1,886 Sardinian participants (822 with CD, 1,064 with T1D, 627 controls) underwent HLA class II typing.
  • Analysis of HLA genotypes in 76 CD patients who also had T1D (CD-T1D) to identify associations with CD, T1D, and controls.

Main Results:

  • Specific high-risk HLA-DQ genotypes (e.g., HLA-DQ2.5/DQ8) were significantly associated with CD-T1D.
  • Certain HLA genotypes linked to CD appeared to offer protection against T1D development.
  • The study identified HLA genotyping as a tool to identify CD patients at risk for T1D, with a higher incidence of CD preceding T1D in younger children.

Conclusions:

  • Specific HLA genotypes are predictive of future T1D development in patients with CD.
  • Early screening for celiac autoimmunity and HLA typing in children with CD can identify high-risk individuals for T1D.
  • These findings support reconsidering HLA typing in pediatric CD cases for proactive management and potential immunotherapies to preserve beta-cell function.
Abstract

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