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Objectives <p>To determine the human leukocyte antigen (HLA)-DQ genotype pattern in children with celiac disease (CD).</p> Methods <p>We retrospectively reviewed 490 patients aged 2–18&#xa0;years who presented to our clinic between 2014 and 2024 with suspected CD and underwent HLA-DQ tissue typing.</p> Results <p>Out of 490 patients, 220 were diagnosed as CD and 270 as controls. Analysis of CD samples for HLA types revealed that 140 (63.6%) were only HLA-DQ2 positive, 25 (11.3%) were only HLA-DQ8 positive, and 35 (15.9%) were both HLA-DQ2 and HLA-DQ8 positive. However, 20 (9%) of our patients were neither HLA-DQ2 nor HLA-DQ8 positive. In the control group, 102 patients were HLA-DQ2 positive and 66 were HLA-DQ8 positive Being homozygous for HLA-DQ2 increased the risk for CD by 16.49 times, and being homozygous for HLA-DQ8 increased the risk for CD by 4.39 times.</p> Conclusions <p>HLA-DQ2/8 genotypes are strongly associated with pediatric patients with CD in Turkey. These genotypes and their combinations do not alter clinical presentation. HLA-DQ2/8 strongly contributes to the development of CD.</p> Graphical Abstract <p></p>

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Evaluation of HLA-DQ Genetic Risk Classes in Pediatric Cases for Celiac Disease: Role of HLA-DQ2 and DQ8 Haplotypes

  • 期刊论文

  • 发表日期：

    2026年3月11日

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  • Hatice Yilmaz Dagli,
  • Reha Artan,
  • Aygen Yılmaz

摘要

Objectives

To determine the human leukocyte antigen (HLA)-DQ genotype pattern in children with celiac disease (CD).

Methods

We retrospectively reviewed 490 patients aged 2–18 years who presented to our clinic between 2014 and 2024 with suspected CD and underwent HLA-DQ tissue typing.

Results

Out of 490 patients, 220 were diagnosed as CD and 270 as controls. Analysis of CD samples for HLA types revealed that 140 (63.6%) were only HLA-DQ2 positive, 25 (11.3%) were only HLA-DQ8 positive, and 35 (15.9%) were both HLA-DQ2 and HLA-DQ8 positive. However, 20 (9%) of our patients were neither HLA-DQ2 nor HLA-DQ8 positive. In the control group, 102 patients were HLA-DQ2 positive and 66 were HLA-DQ8 positive Being homozygous for HLA-DQ2 increased the risk for CD by 16.49 times, and being homozygous for HLA-DQ8 increased the risk for CD by 4.39 times.

Conclusions

HLA-DQ2/8 genotypes are strongly associated with pediatric patients with CD in Turkey. These genotypes and their combinations do not alter clinical presentation. HLA-DQ2/8 strongly contributes to the development of CD.

Graphical Abstract