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Related Experiment Videos

Genetic predisposition and IDDM in Greece

C Karayanni1, V Anastasiadou, M Spyropoulou

  • 1Department of Pediatrics, P. and A. Kyriakou, Children's Hospital, Athens, Greece.

Genetic Counseling (Geneva, Switzerland)
|January 1, 1993
PubMed
Summary

The study investigated Human Leukocyte Antigen (HLA) -DR2 in Greek patients with Type 1 Diabetes (T1D). Contrary to expectations, HLA-DR2 did not show protective effects against T1D in this population.

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Area of Science:

  • Immunogenetics
  • Endocrinology
  • Human Genetics

Background:

  • Type 1 Diabetes (T1D), or Insulin-Dependent Diabetes Mellitus (IDDM), is an autoimmune disease with known genetic predispositions.
  • Human Leukocyte Antigen (HLA) genes, particularly HLA-DR, are strongly associated with T1D susceptibility and resistance.
  • The HLA-DR2 antigen has been considered protective against T1D in various populations.

Purpose of the Study:

  • To investigate the association of HLA-DR antigens, specifically HLA-DR2, with T1D in the Greek population.
  • To determine if the HLA-DR2 antigen confers protection against T1D in Greeks.
  • To analyze specific HLA-DQ subtypes within the DR2 haplotype in T1D patients and controls.

Main Methods:

  • Serological typing was used to determine HLA-DR antigen frequencies in 116 T1D patients and 380 healthy Greek controls.

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  • HLA-DQ genotyping was performed on a subset of 10 T1D children and 13 controls, all carrying the HLA-DR2 haplotype.
  • Analysis focused on the distribution of HLA-DR2 and specific HLA-DQ subtypes (DR2 (16) or AZH-DQA1*0102, DQB*0502).

    • Main Results:

    • A high incidence of HLA-DR3 and HLA-DR4 antigens was confirmed in T1D patients, as expected.
    • The HLA-DR2 antigen was found in 35% of both T1D patients and healthy controls, indicating no protective effect in this cohort.
    • The specific subtype DR2 (16) or AZH-DQA1*0102, DQB*0502 was prevalent in both T1D patients and controls with the DR2 haplotype.

    Conclusions:

    • The HLA-DR2 antigen does not appear to confer protection against Type 1 Diabetes in the Greek population.
    • The high prevalence of a specific HLA-DR2/DQ subtype in healthy individuals may explain the lack of protective association.
    • These findings highlight population-specific genetic influences on T1D susceptibility and resistance.