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Diabetologia

, Volume 42, Issue 5, pp 617–620 | Cite as

Variants in the sulphonylurea receptor gene: association of the exon 16–3t variant with Type II diabetes mellitus in Dutch Caucasians

  • L. M. ’t Hart
  • P. de Knijff
  • J. M. Dekker
  • R. P. Stolk
  • G. Nijpels
  • F. E. E. van der Does
  • J. B. Ruige
  • D. E. Grobbee
  • R. J. Heine
  • J. A. Maassen
Short communication 4

Abstract

Aims/hypothesis. We have analysed to what extent two previously reported single nucleotide polymorphisms in the sulphonylurea receptor gene (SUR1) are associated with Type II (non-insulin-dependent) diabetes mellitus in The Netherlands. Furthermore, we estimated haplotype frequencies in control and diabetic populations, including data extracted from three other studies. Methods. Subjects with Type II diabetes (n = 388) and normoglycaemic subjects (n = 336) were randomly selected from two population-based studies, the Hoorn and Rotterdam studies. DNA was typed for variants in exon 16 (-3ct variant in the splice acceptor site) and exon 18 (Thr759Thr, ACC→ACT). Results. The genotype frequencies in both populations were similar. We observed an association of the exon 16–3t variant with Type II diabetes (allele frequencies 0.41 % vs 0.48 % in NGT and Type II diabetes, respectively, p = 0.01). There was no association between Type II diabetes and the variant in exon 18 or the combination of both variants (p > 0.5). A strong linkage disequilibrium between the exon 16 and exon 18 variants was observed in the diabetic groups but not, or less pronounced, in the control groups from the different studies. Haplotype estimation shows that several different risk haplotypes exist in different Caucasian populations. Conclusion/interpretation. The exon 16–3t allele of the SUR1 gene is associated with Type II diabetes in the Netherlands. Based on estimated haplotype frequencies in different Caucasian populations we conclude that multiple haplotypes on the SUR1 gene seem to confer a risk for developing Type II diabetes in Caucasians. [Diabetologia (1999) 42: 617–620]

Keywords Type II diabetes diabetes genetics sulphonylurea receptor prevalence. 

Copyright information

© Springer-Verlag Berlin Heidelberg 1999

Authors and Affiliations

  • L. M. ’t Hart
    • 1
  • P. de Knijff
    • 2
  • J. M. Dekker
    • 3
  • R. P. Stolk
    • 4
  • G. Nijpels
    • 3
  • F. E. E. van der Does
    • 3
  • J. B. Ruige
    • 3
  • D. E. Grobbee
    • 5
  • R. J. Heine
    • 3
  • J. A. Maassen
    • 1
  1. 1.MGC-Department of Molecular Cell Biology, Leiden University Medical Centre, Leiden, The NetherlandsNL
  2. 2.MGC-Department of Human Genetics, Leiden University Medical Centre, Leiden, The NetherlandsNL
  3. 3.Institute for Research in Extramural Medicine, Vrije Universiteit Amsterdam, Amsterdam, The NetherlandsNL
  4. 4.Julius Centre for Patient Orientated Research, Utrecht University, Utrecht, The NetherlandsNL
  5. 5.Department of Epidemiology and Biostatistics, Erasmus University Medical School, Rotterdam, The NetherlandsNL

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