ArticleCell genomics2021
Association of mitochondrial DNA copy number with cardiometabolic diseases.
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Article in Cell genomics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers, 2 of them syntheses that pooled it.
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35citing papers in PubMed, 2 pooled it
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Who cites it
35 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Association of Mitochondrial DNA Copy Number With Brain MRI Markers and Cognitive Function: A Meta-analysis of Community-Based Cohorts.Neurology · 2023Pooled it
- Epigenome-wide association study of mitochondrial genome copy number.Human molecular genetics · 2021Pooled it
- Acute Cannabis Administration Transiently Reduces Mitochondrial DNA in Young Adults: Findings from a Secondary Analysis of a Double-Blind, Placebo-Controlled, Randomized Clinical Trial.Cannabis and cannabinoid research · 2025Trial
- Article
- A Road Map to Understanding Cardiovascular Disease in Diabetes: From the AHA Strategically Focused Research Network in Cardiometabolic Health and Type 2 Diabetes.Circulation research · 2026Review
- Mitochondrial DNA copy number reduction viaEpigenomics · 2026Article
- Epigenome-wide association study of nuclear DNA methylation in relation to mitochondrial heteroplasmy.Nature communications · 2025Article
- Association of Epigenetic Age Acceleration and Mitochondrial DNA-Based Aging Metrics Provides Insights Into Mechanisms of Aging-Related Diseases.Aging cell · 2025Article
- Gestational phthalate levels and biomarkers of aging in infants and children from New York City.Environmental research · 2025Article
- Mitochondrial dysfunction, a new marker warning of neuropsychiatric disorder risk: evidence from genetics and epidemiology.Annals of general psychiatry · 2025Article
- Mitochondrial DNA copy number variation in asthma risk, severity, and exacerbations.The Journal of allergy and clinical immunology · 2025Article
- Implications of mtDNA in human health and diseases.Biotechnologia · 2025Review
- Mitochondrial DNA in atherosclerosis research progress: a mini review.Frontiers in immunology · 2025Review
- Mitochondrial Health Markers and Obesity-Related Health in Human Population Studies: A Narrative Review of Recent Literature.Current obesity reports · 2024Review
- Association analysis of mitochondrial DNA heteroplasmic variants: Methods and application.Mitochondrion · 2024Article
- Blood-derived mitochondrial DNA copy number is associated with Alzheimer disease, Alzheimer-related biomarkers and serum metabolites.Alzheimer's research & therapy · 2024Article
- Inverse associations of cord blood mitochondrial DNA copy number with childhood adiposity.Obesity (Silver Spring, Md.) · 2024Article
- The role of mitochondrial DNA copy number in cardiometabolic disease: a bidirectional two-sample mendelian randomization study.Cardiovascular diabetology · 2024Review
- Association analysis of mitochondrial DNA heteroplasmic variants: methods and application.medRxiv : the preprint server for health sciences · 2024Article
- Low mitochondrial DNA copy number in peripheral blood mononuclear cells is associated with future mortality risk: a long-term follow-up study from Japan.The journal of nutrition, health & aging · 2024Article
Corrections and comments
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Authors and funding
39 authors.
Xue LiuDepartment of Biostatistics, School of Public Health, Boston University, Boston, MA 02118, USA.
Ryan J LongchampsMcKusick-Nathans Institute, Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, MD 21205, USA.
Kerri L WigginsCardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, WA 98101, USA.
Laura M RaffieldDepartment of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
Lawrence F BielakDepartment of Epidemiology, School of Public Health, University of Michigan, Ann Arbor, MI 48109, USA.
Wei ZhaoDepartment of Epidemiology, School of Public Health, University of Michigan, Ann Arbor, MI 48109, USA.
Achilleas PitsillidesDepartment of Biostatistics, School of Public Health, Boston University, Boston, MA 02118, USA.
Thomas W BlackwellTOPMed Informatics Research Center, University of Michigan, Ann Arbor, MI 48109, USA.
Jie YaoThe Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA 90502, USA.
Xiuqing GuoThe Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA 90502, USA.
Nuzulul KurniansyahDivision of Sleep and Circadian Disorders, Brigham and Women's Hospital, Boston, MA 02115, USA.
Bharat ThyagarajanDepartment of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, MN 55455, USA.
Nathan PankratzDepartment of Computational Pathology, University of Minnesota, Minneapolis, MN 55455, USA.
Stephen S RichDepartment of Public Health Services, Center for Public Health Genomics, University of Virginia, Charlottesville, VA 22908, USA.
Kent D TaylorThe Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA 90502, USA.
Patricia A PeyserDepartment of Epidemiology, School of Public Health, University of Michigan, Ann Arbor, MI 48109, USA.
Susan R HeckbertCardiovascular Health Research Unit and Department of Epidemiology, University of Washington, Seattle, WA 98101, USA.
Sudha SeshadriGlenn Biggs Institute for Alzheimer's and Neurodegenerative Diseases, University of Texas Health Science Center at San Antonio, San Antonio, TX 78229, USA.
L Adrienne CupplesDepartment of Biostatistics, School of Public Health, Boston University, Boston, MA 02118, USA.
Eric BoerwinkleHuman Genetics Center, Department of Epidemiology, Human Genetics and Environmental Sciences, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA.
Megan L GroveHuman Genetics Center, Department of Epidemiology, Human Genetics and Environmental Sciences, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA.
Nicholas B LarsonMayo Clinic College of Medicine and Science, Rochester, MN 55905, USA.
Jennifer A SmithDepartment of Epidemiology, School of Public Health, University of Michigan, Ann Arbor, MI 48109, USA.
Ramachandran S VasanFramingham Heart Study, NHLBI/NIH, Framingham, MA 01702, USA.
Tamar SoferDivision of Sleep and Circadian Disorders, Brigham and Women's Hospital, Boston, MA 02115, USA.
Annette L FitzpatrickDepartments of Family Medicine, Epidemiology, and Global Health, University of Washington, Seattle, WA 98195, USA.
Myriam FornageCenter for Human Genetics, University of Texas Health Science Center at Houston, Houston, TX 77030, USA.
Jun DingLongitudinal Studies Section, Translational Gerontology Branch, National Institute on Aging, NIH, Baltimore, MD 21224, USA.
Adolfo CorreaDepartment of Medicine, University of Mississippi Medical Center, Jackson, MS 39216, USA.
Goncalo AbecasisTOPMed Informatics Research Center, University of Michigan, Ann Arbor, MI 48109, USA.
Bruce M PsatyCardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, WA 98101, USA.
James G WilsonDepartment of Physiology and Biophysics, University of Mississippi Medical Center, Jackson, MS 39216, USA.
Daniel LevyFramingham Heart Study, NHLBI/NIH, Framingham, MA 01702, USA.
Jerome I RotterThe Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA 90502, USA.
Joshua C BisCardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, WA 98101, USA.
TOPMed mtDNA Working Group in NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium
Claudia L SatizabalGlenn Biggs Institute for Alzheimer's and Neurodegenerative Diseases, University of Texas Health Science Center at San Antonio, San Antonio, TX 78229, USA.
Dan E ArkingMcKusick-Nathans Institute, Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, MD 21205, USA.
Chunyu LiuDepartment of Biostatistics, School of Public Health, Boston University, Boston, MA 02118, USA.
Funding
Studies of Rare Genetic Variation in the Isolated Population of SardiniaR01HL117626 · NHLBI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI ABECASIS, GONCALO · 2013 to 2016
$10.5MCHARGE Consortium: Omics Discovery for CVD and Aging PhenotypesR01HL105756 · NHLBI · UNIVERSITY OF WASHINGTON · PI Bruce M Psaty, NICHOLAS L SMITH · 2011 to 2026
$9.5MRare variants and NHLBI traits in deeply phenotyped cohortsR01HL120393 · NHLBI · UNIVERSITY OF WASHINGTON · PI PSATY, BRUCE M, RICE, KENNETH M. · 2014 to 2016
$8.9MMitochondrial DNA Copy Number and Genetic Variation in Coronary Heart DiseaseR01HL131573 · NHLBI · JOHNS HOPKINS UNIVERSITY · PI ARKING, DAN E · 2016 to 2019
$3.2MMitochondrial DNA heteroplasmy and risk for atherosclerotic cardiovascular disease (ASCVD)R01HL144569 · NHLBI · JOHNS HOPKINS UNIVERSITY · PI ARKING, DAN E · 2019 to 2022
$3.1MMitochondrial DNA Copy Number and Sequence Variation in Relation to Age, Alzheimer's Disease Related Phenotypes and Age-related Metabolic TraitsR01AG059727 · NIA · BOSTON UNIVERSITY MEDICAL CAMPUS · PI LIU, CHUNYU, SATIZABAL, CLAUDIA L · 2018 to 2021
$2.6MMitochondrial DNA, Nuclear DNA Methylation, and Cardiometabolic Disease TraitsR01HL155569 · NHLBI · BOSTON UNIVERSITY MEDICAL CAMPUS · PI LIU, CHUNYU · 2021 to 2024
$2.4MBritish Heart Foundation CH/1996001/9454Medical Research Council MC_PC_17228Medical Research Council MC_QA137853NHLBI NIH HHS HHSN268201800001CNHLBI NIH HHS R01 HL105756NHLBI NIH HHS R01 HL117626NHLBI NIH HHS R01 HL120393NHLBI NIH HHS R01 HL131573NHLBI NIH HHS R01 HL144569NHLBI NIH HHS R01 HL155569NIA NIH HHS R01 AG059727
Abstract
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 (
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