Variation and Association to Diabetes in 2000 Full mtDNA Sequences Mined From an Exome Study in a Danish Population

Eur J Hum Genet. 2014 Aug;22(8):1040-5. doi: 10.1038/ejhg.2013.282. Epub 2014 Jan 22.


In this paper, we mine full mtDNA sequences from an exome capture data set of 2000 Danes, showing that it is possible to get high-quality full-genome sequences of the mitochondrion from this resource. The sample includes 1000 individuals with type 2 diabetes and 1000 controls. We characterise the variation found in the mtDNA sequence in Danes and relate the variation to diabetes risk as well as to several blood phenotypes of the controls but find no significant associations. We report 2025 polymorphisms, of which 393 have not been reported previously. These 393 mutations are both very rare and estimated to be caused by very recent mutations but individuals with type 2 diabetes do not possess more of these variants. Population genetics analysis using Bayesian skyline plot shows a recent history of rapid population growth in the Danish population in accordance with the fact that >40% of variable sites are observed as singletons.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Case-Control Studies
  • DNA, Mitochondrial*
  • Denmark
  • Diabetes Mellitus / genetics*
  • European Continental Ancestry Group / genetics
  • Exome
  • Gene Frequency
  • Genetic Association Studies*
  • Genetic Variation*
  • Genetics, Population
  • Genotype
  • Humans
  • Phylogeny
  • Polymorphism, Genetic
  • Quantitative Trait, Heritable


  • DNA, Mitochondrial