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Journal of Medical Genetics 2007;44:e80; doi:10.1136/jmg.2007.048876
Copyright © 2007 by the BMJ Publishing Group Ltd.

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*Diabetes

ONLINE MUTATION REPORT

Mitochondrial DNA haplogroups and type 2 diabetes: a study of 897 cases and 1010 controls

P F Chinnery1, C Mowbray1, S K Patel2, J L Elson1, M Sampson3, G A Hitman4, M I McCarthy5, A T Hattersley6, M Walker2

1 Mitochondrial Research Group, Newcastle University, Newcastle upon Tyne, UK
2 Diabetes Research Group, Newcastle University, Newcastle upon Tyne, UK
3 Department of Diabetes and Endocrinology, Norfolk and Norwich University Hospital NHS Trust, Norwich, UK
4 Centre for Diabetes and Metabolic Medicine, Bart’s and The London Queen Mary’s School of Medicine and Dentistry, London, UK
5 Oxford Centre for Diabetes, Endocrinology and Metabolism, Oxford, UK
6 Centre for Molecular Genetics, Peninsula Medical School, Exeter, UK

Correspondence to:
Professor P F Chinnery
Mitochondrial Research Group, The Medical School, Framlington Place, Newcastle upon Tyne NE2 4HH, UK; p.f.chinnery{at}ncl.ac.uk] Mitochondria play a central role in the secretion of insulin by pancreatic ß-cells, and pathogenic mutations of mitochondrial DNA (mtDNA) can cause diabetes. The aetiology of type 2 diabetes has a strong genetic component, raising the possibility that genetic variants of mtDNA alter the risk of developing the disorder. Recent studies have produced conflicting results. By studying 897 UK cases of type 2 diabetes and 1010 population-matched controls, it is shown that European mtDNA haplogroups are unlikely to play a major role in the risk of developing the disorder.


Abbreviations: OXPHOS, oxidative phosphorylation; mtDNA, mitochondrial DNA







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