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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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

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.[1]

References

  1. Mutation of the glucagon receptor gene and diabetes mellitus in the UK: association or founder effect? Gough, S.C., Saker, P.J., Pritchard, L.E., Merriman, T.R., Merriman, M.E., Rowe, B.R., Kumar, S., Aitman, T., Barnett, A.H., Turner, R.C. Hum. Mol. Genet. (1995) [Pubmed]
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