Exploring the diabetogenicity of the HLA-B18-DR3 CEH: independent association with T1D genetic risk close to HLA-DOA

Genes Immun. 2009 Sep;10(6):596-600. doi: 10.1038/gene.2009.41. Epub 2009 May 21.

Abstract

The objective of this study was to identify additional diabetes susceptibility markers in the MHC that could be responsible for the differential diabetogenicity of different HLA-DR3 CEHs. High-resolution SNP genotyping of the MHC was carried out in 15 type 1 diabetes (T1D) patients and 39 non-diabetic controls, homozygous for DR3-DQ2 and with one copy of the A(*)30-B(*)18-MICA(*)4-F1C30-DRB1(*)0301-DQB1(*)0201-DPB1(*)0202 HLA haplotype. Significantly associated SNPs were replicated in an independent sample of 554 T1D patients and 841 controls without HLA matching. Electrophoretic mobility shift assay was used to show a functional effect of an associated SNP. Seven SNPs showed evidence of association in the initial discovery experiment. Upon replication, only rs419434 (upstream HLA-DOA gene) remained significant. A functional variant (rs432375) in complete LD with rs419434 was shown to affect USF-1 binding and could be responsible for the association signal in the region. We have identified a new susceptibility locus within the MHC with a modest contribution to T1D (OR=1.93; CI: 1.52-2.44; P=10(-8)) that is independent of HLA-DRB1 locus.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Case-Control Studies
  • Diabetes Mellitus, Type 1 / epidemiology
  • Diabetes Mellitus, Type 1 / genetics*
  • Diabetes Mellitus, Type 1 / immunology
  • Electrophoretic Mobility Shift Assay
  • Genotype
  • HLA-B Antigens / genetics*
  • HLA-B18 Antigen
  • HLA-D Antigens / genetics*
  • HLA-DR3 Antigen / genetics*
  • Haplotypes / genetics*
  • Humans
  • Microsatellite Repeats / genetics
  • Polymorphism, Single Nucleotide / genetics*
  • Prognosis
  • Spain / epidemiology

Substances

  • HLA-B Antigens
  • HLA-B18 Antigen
  • HLA-D Antigens
  • HLA-DO antigens
  • HLA-DR3 Antigen