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Association of mitochondrial DNA copy number with cardiometabolic diseases.

Cell genomics | 2021

Mitochondrial DNA (mtDNA) is present in multiple copies in human cells. We evaluated cross-sectional associations of whole blood mtDNA copy number (CN) with several cardiometabolic disease traits in 408,361 participants of multiple ancestries in TOPMed and UK Biobank. Age showed a threshold association with mtDNA CN: among younger participants (<65 years of age), each additional 10 years of age was associated with 0.03 standard deviation (s.d.) higher level of mtDNA CN (P = 0.0014) versus a 0.14 s.d. lower level of mtDNA CN (P = 1.82 × 10-13) among older participants (≥65 years). At lower mtDNA CN levels, we found age-independent associations with increased odds of obesity (P = 5.6 × 10-238), hypertension (P = 2.8 × 10-50), diabetes (P = 3.6 × 10-7), and hyperlipidemia (P = 6.3 × 10-5). The observed decline in mtDNA CN after 65 years of age may be a key to understanding age-related diseases.

Pubmed ID: 35036986 RIS Download

Research resources used in this publication

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Associated grants

  • Agency: Medical Research Council, United Kingdom
    Id: MC_PC_17228
  • Agency: NHLBI NIH HHS, United States
    Id: R01 HL120393
  • Agency: NHLBI NIH HHS, United States
    Id: R01 HL105756
  • Agency: NHLBI NIH HHS, United States
    Id: HHSN268201800001C
  • Agency: NIA NIH HHS, United States
    Id: R01 AG059727
  • Agency: British Heart Foundation, United Kingdom
    Id: CH/1996001/9454
  • Agency: NHLBI NIH HHS, United States
    Id: R01 HL144569
  • Agency: NHLBI NIH HHS, United States
    Id: R01 HL131573
  • Agency: NHLBI NIH HHS, United States
    Id: R01 HL117626
  • Agency: Medical Research Council, United Kingdom
    Id: MC_QA137853
  • Agency: NHLBI NIH HHS, United States
    Id: R01 HL155569

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SAMTOOLS (tool)

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