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Paediatric celiac patients carrying the HLA-DR7-DQ2 and HLA-DR3-DQ2 haplotypes display small clinical differences

Juan F Delgado1, María J Amengual, Ana Veraguas

  • 1Immunology Section Laboratory, UDIAT-Centre Diagnòstic, Corporació Sanitària Parc Taulí, Sabadell, Spain; Institut Universitari Parc Taulí-UAB, Universitat Autònoma de Barcelona, Campus d'Excelència Internacional, Bellaterra, Spain.

Acta Paediatrica (Oslo, Norway : 1992)
|March 18, 2014
PubMed

Insights

Screening for HLA-DQ2 in pediatric celiac disease patients should include HLA-DR7-DQ2 typing. This haplotype is frequent in Southern Europe and shows distinct clinical presentations, aiding accurate diagnosis.

Area of Science:

  • Immunogenetics
  • Gastroenterology
  • Pediatric Medicine

Background:

  • Celiac disease (CD) diagnosis relies on identifying specific human leukocyte antigen (HLA) alleles.
  • The HLA-DQ2 haplotype is strongly associated with CD, but its cis and trans configurations can influence presentation.
  • Understanding regional HLA variations is crucial for effective screening in pediatric populations.

Purpose of the Study:

  • To evaluate the clinical relevance of HLA-DR7-DQ2 typing in a Southern European cohort of pediatric celiac disease patients.
  • To determine if HLA-DR7-DQ2 typing improves the screening accuracy for HLA-DQ2 in this population.

Main Methods:

  • A cross-sectional study involving 249 pediatric patients diagnosed with celiac disease.
  • HLA-DR3-DQ2 and HLA-DR7-DQ2 typing were performed to screen for the HLA-DQ2 haplotype.
  • Clinical, histological, and autoantibody data were collected and analyzed.

Main Results:

  • Of 91 diagnosed pediatric celiac patients, 96.7% carried HLA-DQ2 and 4.4% carried HLA-DQ8.
  • HLA-DR3-DQ2 was present in 80.2% and HLA-DR7-DQ2 in 34.1% of patients.
  • Irritability and weight loss were more frequent in HLA-DQ2trans than HLA-DQ2cis configurations; autoantibody levels were higher in HLA-DQ2cis.

Conclusions:

  • While clinical differences between HLA-DR7-DQ2 and HLA-DR3-DQ2 pediatric celiac patients are minor, HLA-DR7-DQ2 typing is recommended for accurate HLA-DQ2 screening in Southern Europe.
  • The frequency and distinct clinical associations of HLA-DR7-DQ2 support its inclusion in diagnostic protocols for pediatric celiac disease in this region.
Abstract

Keywords:
Coeliac diseaseHLA-DQ2HLA-DQ2.2HLA-DQ2transHLA-DR7-DQ2

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