Human Molecular Genetics, 2002, Vol. 11, No. 13 1581-1583
© 2002 Oxford University Press
Type 2 diabetes is associated with a common mitochondrial variant: evidence from a population-based case–control study
1Department of Paediatrics and Statistics, University of Oxford, Oxford, UK and 2Department of Public Health and Primary Care, Institute of Public Health, Cambridge University, Cambridge, UK
Received March 22, 2002; Accepted April 23, 2002
Variants in mitochondrial DNA (mtDNA) could be associated with type 2 diabetes because ATP plays a critical role in the production and release of insulin. Diabetes can be precipitated both by mtDNA mutations and by exposure to mitochondrial poisons. The risk of inheriting diabetes from an affected mother is greater than that from an affected father, but this is not explained by maternally inherited diabetes and/or deafness (MIDD) caused by the 3243G : C mtDNA point mutation, which accounts for less than 0.5% of cases of diabetes. A common mtDNA variant (the 16189 variant) is positively correlated with blood fasting insulin, but there are no definitive studies demonstrating that it is associated with diabetes. We demonstrated a significant association between the 16189 variant and type 2 diabetes in a population-based case–control study in Cambridgeshire, UK (n=932, odds ratio=1.61 (1.0–2.7, P=0.048), which was greatly magnified in individuals with a family history of diabetes from the father's side (odds ratio=
; P<0.001).
* To whom Correspondence should be addressed at: Department of Paediatrics, John Radcliffe Hospital, Room 4406, Headington, Oxford OX3 9DU, UK. Tel.: +44 (0)1865 221067; Fax: +44 (0)1865 220479
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