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- Title
Mutation of the glucagon receptor gene and diabetes mellitus in the UK: association or founder effect?
- Authors
Gough, Stephen C.L.; Saker, Philip J.; Pritchard, Lynn E.; Merriman, Tony R.; Merriman, Marilyn E.; Rowe, Bethan R.; Kumar, Sudhesh; Aitman, Timothy; Barnett, Anthony H.; Turner, Robert C.; Bain, Stephen C.; Todd, John A.
- 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 GGT (Gly) to AGT (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 = 0.008). An increased frequency of the mutation of the GCG-R gene was also found in probands of type (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
Human Molecular Genetics, 1995, Vol 4, Issue 9, p1609
- ISSN
0964-6906
- Publication type
Article