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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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HLA Evolutionary Divergence and Paediatric Disease Risk: Unveiling Genetic Associations.

Donato Madalese1,2, Laura Auriemma1, Martina Esposito1

  • 1UOSD Ba.S.C.O., Manipolazione Cellulare ed Immunogenetica - Department of Oncology Haematology and Cell Therapies, AORN Santobono-Pausilipon, Naples, Italy.

HLA
|April 24, 2026
PubMed
Summary

Specific Human Leukocyte Antigen (HLA) evolutionary divergence (HED) profiles are linked to childhood leukaemia risk. The LHH HED profile significantly increases the risk of Acute Lymphoblastic Leukaemia (ALL), impacting disease onset and potentially serving as an immunogenetic biomarker.

Keywords:
ALLAMLHEDHLAPaediatric haematological diseaseevolutionary divergenceimmunogenetics

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Area of Science:

  • Immunogenetics
  • Oncology
  • Evolutionary Biology

Background:

  • The Human Leukocyte Antigen (HLA) system is vital for immune recognition and disease susceptibility.
  • Genetic variability within the HLA system influences an individual's risk for various diseases, including cancers.
  • Understanding HLA evolutionary divergence (HED) may offer insights into disease pathogenesis.

Purpose of the Study:

  • To investigate the association between HLA evolutionary divergence (HED) scores and paediatric haematological malignancies.
  • To determine if locus-specific HED profiles correlate with the risk of developing leukaemia in children.
  • To explore the potential of HED as an immunogenetic biomarker in paediatric oncology.

Main Methods:

  • High-resolution HLA typing (A, B, C loci) was performed on 89 paediatric patients (age ≤ 20).
  • HED scores were calculated and categorised into eight distinct profiles (High/Low divergence).
  • Statistical analyses, including Fisher's exact test and binary logistic regression, were used to assess associations, adjusting for age and sex.

Main Results:

  • The LHH HED profile (Low divergence at HLA-A, High at HLA-B and C) was a significant risk factor for Acute Lymphoblastic Leukaemia (ALL), increasing risk threefold (OR=3.24, p=0.0481).
  • A trend towards increased ALL susceptibility was observed with high divergence at the HLA-B locus alone (OR=2.17, p=0.056).
  • HED profiles independently influenced the age of diagnosis, with specific configurations modulating disease latency, suggesting altered immune evasion kinetics.

Conclusions:

  • HLA evolutionary divergence (HED) is a critical determinant of leukaemia susceptibility in children, independent of age and sex.
  • The HLA-A locus's 'bottleneck' (LHH profile) may indicate impaired antigen presentation and reduced anti-tumour surveillance.
  • HED profiles show potential as robust immunogenetic biomarkers for risk stratification and personalised monitoring in paediatric leukaemia.