HLA-DQ screening for risk assessment of insulin dependent diabetes in northern Italy

V. Lampasona, M. Ferrari, E. Bonifacio, M. R. Pastore, P. Carrera, A. Sergi, S. Genovese, M. Trucco, J. Dorman, E. Bosi

Research output: Contribution to journalArticle

Abstract

Genetic markers may be used to improve the prediction of insulin-dependent diabetes mellitus (type 1) in individuals with islet autoantibodies. In order to develop a risk assessment strategy for the Lombardy region of northern Italy based on genetic and immunological markers, we analyzed HLA DQA1 and DQB1 alleles in 60 type 1 probands and their first-degree relatives and 65 unrelated control subjects from the same area using polymerase chain reaction (PCR) and oligonucleotide probes. The major risk haplotypes were DQA1 *0501-DQB1 *0201 (39.1% of diabetic vs 8.9% of non-diabetic haplotypes) and DQA1 *0301-DQB1 *0302 (20% of diabetic vs 7.1% of non-diabetic haplotypes). Stratified analysis showed DQA1 *0102-DQB1 *0502 also to be associated with type 1 susceptibility when found together with DQA1 *0501-DQB1 *0201 or DQA1 *0301-DQB1 *0302. One type 1 patient had the type 1-protective DQA1 *0102-DQB1 *0602 haplotype. Overall, 88% of patients and 20% of unrelated control subjects had either DQA1 *0501-DQB1 *0201 or DQA1 *0301-DQB1 *0302 in the absence of DQA1 *0102-DQB1 *0602. These data suggest that typing for markers identifying these three haplotypes in the Lombardy population will achieve a sensitivity of almost 90% and exclude 80% of children from subsequent islet autoantibody testing.

Original languageEnglish
Pages (from-to)137-142
Number of pages6
JournalActa Diabetologica
Volume32
Issue number3
DOIs
Publication statusPublished - Sep 1995

Keywords

  • Genetic markers
  • HLA
  • Insulin-dependent diabetes mellitus
  • Risk assessment

ASJC Scopus subject areas

  • Internal Medicine
  • Endocrinology, Diabetes and Metabolism
  • Endocrinology

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