Cardiometabolic phenotypes and mitochondrial DNA copy number in two cohorts of UK women

Mitochondrion. 2018 Mar;39:9-19. doi: 10.1016/j.mito.2017.08.007. Epub 2017 Aug 15.


The mitochondrial genome is present at variable copy number between individuals. Mitochondria are vulnerable to oxidative stress, and their dysfunction may be associated with cardiovascular disease. The association of mitochondrial DNA copy number with cardiometabolic risk factors (lipids, glycaemic traits, inflammatory markers, anthropometry and blood pressure) was assessed in two independent cohorts of European origin women, one in whom outcomes were measured at mean (SD) age 30 (4.3) years (N=2278) and the second at 69.4 (5.5) years (N=2872). Mitochondrial DNA copy number was assayed by quantitative polymerase chain reaction. Associations were adjusted for smoking, sociodemographic status, laboratory factors and white cell traits. Out of a total of 12 outcomes assessed in both cohorts, mitochondrial DNA copy number showed little or no association with the majority (point estimates were close to zero and nearly all p-values were >0.01). The strongest evidence was for an inverse association in the older cohort with insulin (standardised beta [95%CI]: -0.06, [-0.098, -0.022], p=0.002), but this association did not replicate in the younger cohort. Our findings do not provide support for variation in mitochondrial DNA copy number having an important impact on cardio-metabolic risk factors in European origin women.

Keywords: ALSPAC; Cardiovascular disease; Complex traits; Copy number; Diabetes; Mitochondrial DNA.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Cardiovascular Diseases / epidemiology
  • Cardiovascular Diseases / genetics*
  • DNA Copy Number Variations*
  • DNA, Mitochondrial / analysis*
  • Female
  • Humans
  • Metabolic Diseases / epidemiology
  • Metabolic Diseases / genetics*
  • Middle Aged
  • United Kingdom / epidemiology


  • DNA, Mitochondrial