Mutation of the glucagon receptor gene and diabetes mellitus in the UK: Association or founder effect?

Academic Article


  • Recent evidence suggests that a mutation of the glucagon receptor (GCG-R) gene is involved in the development of type 2 diabetes in French patients. We have examined patients from three geographically distinct regions in the UK and found the GGT40 (Gly) to AGT40 (Ser) mutation to be present in 15/691 (2.2%) of patients with type 2 (non-insulin dependent) diabetes and 1/425 (0.2% ) of geographically matched controls and have therefore replicated association of the GCG-R mutation with classical type 2 diabetes (Fisher's exact test p = 0.008). An increased frequency of the mutation of the GCG-R gene was also found in probands of type 1 (insulin dependent) diabetic multiplex (affected sib pair) families, (10/404, 2.5%). However, a lack of preferential transmission from parents heterozygous for the mutation, to affected type 1 diabetic sibs may suggest population stratification. This in turn cannot be excluded as an alternative explanation for the difference in frequency of the GCG-R gene mutation between subjects with type 2 diabetes and normal controls. © 1995 Oxford University Press.
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    Author List

  • Gough SCL; Saker PJ; Pritchard LE; Merriman TR; Merriman ME; Rowe BR; Kumar S; Aitman T; Barnett AH; Turner RC
  • Start Page

  • 1609
  • End Page

  • 1612
  • Volume

  • 4
  • Issue

  • 9