J Med Genet 44:e80 doi:10.1136/jmg.2007.048876
  • Online mutation report

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

  1. P F Chinnery1,
  2. C Mowbray1,
  3. S K Patel2,
  4. J L Elson1,
  5. M Sampson3,
  6. G A Hitman4,
  7. M I McCarthy5,
  8. A T Hattersley6,
  9. M Walker2
  1. 1Mitochondrial Research Group, Newcastle University, Newcastle upon Tyne, UK
  2. 2Diabetes Research Group, Newcastle University, Newcastle upon Tyne, UK
  3. 3Department of Diabetes and Endocrinology, Norfolk and Norwich University Hospital NHS Trust, Norwich, UK
  4. 4Centre for Diabetes and Metabolic Medicine, Bart’s and The London Queen Mary’s School of Medicine and Dentistry, London, UK
  5. 5Oxford Centre for Diabetes, Endocrinology and Metabolism, Oxford, UK
  6. 6Centre for Molecular Genetics, Peninsula Medical School, Exeter, UK
  1. Correspondence to:
 Professor P F Chinnery
 Mitochondrial Research Group, The Medical School, Framlington Place, Newcastle upon Tyne NE2 4HH, UK; p.f.chinnery{at}
  • Received 2 January 2007
  • Accepted 5 February 2007
  • Revised 26 January 2007


Mitochondria play a central role in the secretion of insulin by pancreatic β-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.


  • Competing interests: None declared.