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

Hum Mol Genet. 1995 Sep;4(9):1609-12. doi: 10.1093/hmg/4.9.1609.

Abstract

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Diabetes Mellitus, Type 1 / genetics*
  • Diabetes Mellitus, Type 2 / genetics*
  • Diabetes, Gestational / genetics*
  • Fasting
  • Female
  • Founder Effect*
  • Genetic Linkage*
  • Heterozygote
  • Humans
  • Hyperglycemia / genetics
  • Male
  • Mutation
  • Pregnancy
  • Receptors, Glucagon / genetics*
  • United Kingdom

Substances

  • Receptors, Glucagon