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HLA-DR typing in coeliac disease: evidence for genetic heterogeneity

A Ellis, C J Taylor, M Dillon-Remmy

    British Medical Journal (Clinical Research Ed.)
    |December 8, 1984
    PubMed

    Insights

    Coeliac disease shows genetic differences based on age of onset. Childhood coeliac disease is linked to HLA-DR7 and HLA-DR2 antigens, suggesting distinct genetic factors.

    Area of Science:

    • Immunogenetics
    • Gastroenterology
    • Human Genetics

    Background:

    • Coeliac disease is an autoimmune disorder triggered by gluten ingestion.
    • Human Leukocyte Antigen (HLA) genes, particularly HLA-DR, are strongly associated with coeliac disease susceptibility.

    Purpose of the Study:

    • To investigate the association of HLA-DR antigens with coeliac disease.
    • To determine if there are genetic differences between childhood and adult-onset coeliac disease.

    Main Methods:

    • Human Leukocyte Antigen (HLA)-DR typing was performed on individuals with coeliac disease and healthy controls.
    • Statistical analysis was used to compare antigen frequencies between patient groups and controls.

    Main Results:

    • A significantly higher frequency of HLA-DR3 was observed in coeliac disease patients (91%) compared to controls (26%).
    • Childhood-onset coeliac disease showed increased frequencies of HLA-DR7 (60%) and decreased frequencies of HLA-DR2 (3.5 x 10(-3)) compared to adult-onset disease.
    • Adult coeliac disease patients also showed a significant increase in HLA-DR3 (86%) compared to controls.

    Conclusions:

    • Childhood and adult-onset coeliac disease exhibit genetic heterogeneity.
    • Specific HLA-DR antigen associations suggest distinct genetic underpinnings for different age-of-onset groups in coeliac disease.

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