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


YILMAZ DAĞLI H., ARTAN R., YILMAZ A.

Indian Pediatrics, 2026 (SCI-Expanded, Scopus) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Basım Tarihi: 2026
  • Doi Numarası: 10.1007/s13312-026-00302-x
  • Dergi Adı: Indian Pediatrics
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, EMBASE
  • Anahtar Kelimeler: Celiac disease, HLA-DQ2, HLA-DQ8, Human leukocyte antigen
  • Akdeniz Üniversitesi Adresli: Evet

Özet

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.