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Characteristics of Type 1 Diabetes Among Patients Carrying the Protective HLA-DQB1*06:02 Allele

Antti-Mathias Taka1,2, Taina Härkönen1, Paula Vähäsalo3,4

  • 1Pediatric Research Center, New Children's Hospital, Helsinki University Hospital, Helsinki, Finland.

HLA
|November 20, 2024
PubMed

Insights

The protective HLA DQB1*06:02 allele in type 1 diabetes is linked to older diagnosis age and higher GADA levels in children. This protective effect appears dominant, especially when combined with high-risk haplotypes.

Area of Science:

  • Immunogenetics
  • Pediatric Endocrinology
  • Autoimmune Diseases

Background:

  • Human Leukocyte Antigen (HLA) class II genes, particularly DQB1*06:02, play a role in autoimmune disease susceptibility.
  • Understanding the influence of specific HLA alleles on type 1 diabetes (T1D) phenotype is crucial for risk stratification and management.
  • Previous studies suggest DQB1*06:02 is protective against T1D, but its impact on clinical presentation at diagnosis requires further investigation in diverse populations.

Purpose of the Study:

  • To investigate the clinical characteristics of pediatric type 1 diabetes at diagnosis in children carrying the protective HLA class II DQB1*06:02 allele.
  • To compare T1D phenotypes between DQB1*06:02 carriers and non-carriers, including those with high-risk genotypes.
  • To analyze the combined effect of the DQB1*06:02 allele and high-risk haplotypes on T1D presentation.

Main Methods:

  • Observational study of 5530 Finnish children (0-14 years) diagnosed with T1D between 2003 and 2018.
  • Comparison of clinical and autoantibody profiles (GADA, IA-2A) between 75 DQB1*06:02 carriers and non-carriers.
  • Analysis of phenotypic differences based on the presence of DQB1*06:02 alone, in combination with high-risk haplotypes, or other HLA genotypes.

Main Results:

  • DQB1*06:02 carriers were diagnosed at a significantly older age compared to non-carriers and those with high-risk genotypes (p < 0.001).
  • Higher levels of glutamic acid decarboxylase autoantibodies (GADA) were observed in DQB1*06:02 carriers (p = 0.033).
  • Pairing the DQB1*06:02-positive haplotype with a high-risk haplotype was associated with elevated islet antigen 2 autoantibodies (IA-2A) (p < 0.001) and shorter symptom duration (p = 0.043).

Conclusions:

  • The protective DQB1*06:02 allele is associated with a later age of T1D diagnosis and increased GADA levels in pediatric patients.
  • The phenotypic influence of the DQB1*06:02-positive haplotype appears to be dominant, particularly when co-inherited with a high-risk haplotype.
  • These findings reinforce the role of specific HLA class II alleles in modulating T1D onset and presentation.

Keywords:
HLA genotypeautoantibodieschildrengenetic risktype 1 diabetes

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