Genetic association of HLA DQB1 with CD4+CD25+(high) T-cell apoptosis in type 1 diabetes

Genes Immun. 2009 Jun;10(4):334-40. doi: 10.1038/gene.2009.14. Epub 2009 Mar 19.

Abstract

Type 1 diabetes (T1D) has a strong genetic component and the major locus lies in the HLA DQB1 region. We found earlier an increased apoptosis with decreased viability and function of the CD4+CD25+(high) T-cell subset (Treg) in human subjects with recent-onset T1D and in multiple autoantibody-positive, high at-risk individuals. Tregs normally inhibit or delay onset of T1D in animal models and increased Treg apoptosis could bring on or accelerate disease from effector T-cell-mediated destruction of insulin-producing beta cells. In this study, we test the hypothesis that HLA DQB1 genotypes are associated with increased CD4+CD25+(high) T-cell apoptosis. HLA DQ-based genetic risk status was significantly associated with CD4+CD25+(high) T-cell apoptosis, after adjustment for age, gender and phenotypic status (n=83, F=4.04 (d.f.=3), P=0.01). Unaffected, autoantibody-negative high risk HLA DQB1 control subjects showed increased CD4+CD25+(high) apoptosis levels compared with low risk HLA DQB1 control subjects (n=26, P=0.002), confirming that the association precedes disease. The association of specific HLA DQB1 genotypes with Treg apoptosis was also tested, showing significance for HLA DQB1*0302, DQB1*0201 and HLA DQB1*0602 alleles. Our study shows an association of HLA DQB1 genotypes with CD4+CD25+(high) T-cell apoptosis, which implicates CD4+CD25+(high) T-cell apoptosis as a new intermediate trait for T1D.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Alleles
  • Apoptosis / genetics*
  • Apoptosis / immunology
  • CD4 Antigens / immunology
  • Child
  • Diabetes Mellitus, Type 1 / genetics*
  • Diabetes Mellitus, Type 1 / immunology
  • Female
  • Genetic Predisposition to Disease
  • Genotype
  • HLA-DQ Antigens / genetics*
  • HLA-DQ Antigens / immunology
  • HLA-DQ beta-Chains
  • Humans
  • Interleukin-2 Receptor alpha Subunit / genetics
  • Male
  • Membrane Glycoproteins / genetics*
  • Membrane Glycoproteins / immunology
  • T-Lymphocyte Subsets / immunology
  • T-Lymphocytes, Regulatory / immunology
  • Young Adult

Substances

  • CD4 Antigens
  • HLA-DQ Antigens
  • HLA-DQ beta-Chains
  • HLA-DQB1 antigen
  • Interleukin-2 Receptor alpha Subunit
  • Membrane Glycoproteins