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Åke Lernmark

Principal investigator

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HLA-DQB1*0201/0302 is associated with severe retinopathy in patients with IDDM

Author

  • Daniel Agardh
  • L K Gaur
  • Elisabet Agardh
  • Mona Landin-Olsson
  • Carl-David Agardh
  • Åke Lernmark

Summary, in English

Some insulin-dependent diabetic (IDDM) patients develop severe forms of retinopathy. Putative risk factors such as hypertension, poor metabolic control, nephropathy and growth hormone levels do not fully explain the progress of retinopathy in these patients. It has been discussed whether there is a genetic marker, since some diabetic patients without any known predisposing risk factors develop severe retinopathy and others do not. In the present study, HLA-DR and DQ were compared in two patient groups with IDDM. One group consisted of patients with early-onset diabetes, with severe non-proliferative or proliferative retinopathy; the other group had no or only mild signs of retinopathy. High resolution HLA typing was carried out by polymerase chain reaction (PCR) and hybridization with allele specific probes. Alleles on the DR3-DQ2 haplotype, DRB1*0301, DQA1*0501 and DQB1*0201, were more frequent in patients with severe retinopathy. A difference was seen when combining certain alleles in the genotypes of DQA1*03/0501 (p > 0.05) and DQB1*0201/0302 (p < 0.01). The findings of the present study suggest that DQB1*0201/0302 is the strongest genetic marker for severe retinopathy and DRB1*0301/0401 only has a secondary influence when combined with this genotype. It seems as if IDDM patients who are positive for the genotype DR3-DQ2/DR4-DQ8 (DRB1*0301-DQA1*0501-DQB1*0201/DRB1*0401 -DQA1*03-DQB1*0302) are at greater risk of developing severe retinopathy.

Department/s

  • Paediatric Endocrinology
  • Diabetes and Celiac Unit
  • Department of Clinical Sciences, Malmö
  • Medicine, Lund

Publishing year

1996

Language

English

Pages

1313-1317

Publication/Series

Diabetologia

Volume

39

Issue

11

Document type

Journal article

Publisher

Springer

Topic

  • Endocrinology and Diabetes

Keywords

  • Severe retinopathy
  • insulin-dependent diabetes mellitus
  • HLA-DR
  • HLA-DQ
  • allele
  • haplotype
  • genotype

Status

Published

Research group

  • Paediatric Endocrinology
  • Diabetes and Celiac Unit

ISBN/ISSN/Other

  • ISSN: 1432-0428