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Åke Lernmark

Principal investigator

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The beta cell glucokinase promoter variant is an unlikely risk factor for diabetes mellitus

Author

  • K. Lotfi
  • G. Sund
  • R. Lowe
  • J. Graham
  • M. Landin-Olsson
  • I. Kockum
  • S. Deeb
  • Å Lernmark

Summary, in English

Glucokinase plays an important role in the regulation of insulin secretion and is therefore an attractive candidate gene for both insulin dependent (IDDM) and non-insulin-dependent (NIDDM) diabetes mellitus. A single G-A nucleotide polymorphism at the -30 position of the beta-cell specific promoter region of the glucokinase gene was previously associated with reduced beta-cell function. In the present study we analysed 268 consecutive newly diagnosed Swedish patients classified with either IDDM (n = 205), NIDDM (n = 31) or unclassifiable (n = 32) diabetes between the ages of 15 and 35 years along with a group of 158 age- and sex-matched control subjects. The beta-cell promoter region was amplified by the polymerase chain reaction and the G-A variant identified by single strand conformational polymorphism. There was no significant difference in allele frequencies of G and A between any of the subject groups and likewise, no significant difference in the frequencies of the G/G, G/A, or A/A genotypes. Eight subjects were homozygous for the less common A allele, five had IDDM and three were control subjects. Our results suggest that the -30 beta-cell glucokinase promoter variant is not associated with IDDM.

Publishing year

1997-08-11

Language

English

Pages

959-962

Publication/Series

Diabetologia

Volume

40

Issue

8

Document type

Journal article

Publisher

Springer

Keywords

  • GAD65 antibodies
  • Glucokinase gene
  • IDDM
  • Islet cell antibodies
  • NIDDM
  • Polymerase chain reaction
  • Single strand conformational polymorphism

Status

Published

ISBN/ISSN/Other

  • ISSN: 0012-186X