ArticleHuman genetics2022
Genome-wide analysis of mitochondrial DNA copy number reveals loci implicated in nucleotide metabolism, platelet activation, and megakaryocyte proliferation.
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In one paragraph
Article in Human genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers, 4 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
43citing papers in PubMed, 4 pooled it
4.0field-weighted citation impact, top 5% of its field
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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Who cites it
43 citing papers in PubMed, 4 syntheses or guidelines pooled it, 70 citations in OpenAlex.
- Genetic association between mitochondrial DNA copy number and glioma risk: insights from causality.BMC cancer · 2024Pooled it
- Mitochondrial DNA copy number is associated with Crohn's disease: a comprehensive Mendelian randomization analysis.Scientific reports · 2023Pooled 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
- Powering the mind: deciphering the shared genetic architecture between mitochondrial DNA copy number and major psychiatric disorders.Molecular psychiatry · 2026Article
- Evaluating the causal effect of mitochondrial dysfunction on Alzheimer's disease and Parkinson's disease using polygenic risk scores and Mendelian randomization.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2026Article
- Association of leukocyte mitochondrial DNA copy number and inflammation with mortality among older adults.Communications medicine · 2026Article
- Genetic insights into biological aging and myasthenia gravis: a Mendelian randomization study of telomere length, epigenetic clocks, and mitochondrial DNA copy number.Clinical epigenetics · 2026Article
- Integration of latent factor analysis into multivariable Mendelian randomization.European journal of epidemiology · 2026Article
- Article
- Mitochondrial DNA copy number as a genetic determinant of renal function: insights from bidirectional Mendelian randomization.Renal failure · 2025Article
- Evaluating the causal effect of mitochondrial dysfunction on Alzheimer's and Parkinson's disease using Polygenic Risk Scores and Mendelian Randomization.medRxiv : the preprint server for health sciences · 2025Article
- MR analysis reveals no causal association between mitochondrial DNA copy number and osteoporosis.Scientific reports · 2025Article
- Comprehensive analysis of molecular, physiological, and functional biomarkers of aging with neurological diseases using Mendelian randomization.GeroScience · 2025Article
- Investigating the genetic association of mitochondrial DNA copy number with neurodegenerative diseases.BMC neurology · 2025Article
- Mitochondrial DNA copy number variation in asthma risk, severity, and exacerbations.The Journal of allergy and clinical immunology · 2025Article
- Circulating cell-free mitochondrial DNA for diagnosing hepatocellular carcinoma and assessing prognosis: Editorial on "Aberrant fragmentomic features of circulating cell-free mitochondrial DNA enable early detection and prognosis prediction of hepatocellular carcinoma".Clinical and molecular hepatology · 2025Article
- The mitochondrial DNA copy number and ovary-related reproductive disorders: A bidirectional two-sample Mendelian randomization study.International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics · 2025Article
- Tapping natures rhythm: the role of season in mitochondrial function and genetics in the UK biobank.Human genomics · 2025Article
- The Role of Mitochondrial DNA Copy Number in Neurodevelopmental Disorders: A Bidirectional Two-Sample Mendelian Randomization Study.Psychology research and behavior management · 2025Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
52 authors at 20 institutions in 6 countries.
R J Longchamps *Department of Genetic Medicine, McKusick-Nathans Institute, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
S Y Yang *Department of Genetic Medicine, McKusick-Nathans Institute, Johns Hopkins University School of Medicine, Baltimore, MD, USA.ORCID http://orcid.org/0000-0002-6327-0847
C A CastellaniDepartment of Genetic Medicine, McKusick-Nathans Institute, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
W ShiDepartment of Genetic Medicine, McKusick-Nathans Institute, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
J LaneDepartment of Laboratory Medicine and Pathology, University of Minnesota Medical School, Minneapolis, MN, USA.
M L GroveDepartment of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, Human Genetics Center, The University of Texas Health Science Center at Houston, Houston, TX, USA.
T M BartzCardiovascular Health Research Unit, Departments of Medicine and Biostatistics, University of Washington, Seattle, WA, USA.
C SarnowskiDepartment of Biostatistics, Boston University School of Public Health, Boston, MA, USA.
C LiuDepartment of Biostatistics, Boston University School of Public Health, Boston, MA, USA.
K BurrowsMRC Integrative Epidemiology Unit at the University of Bristol, University of Bristol, Oakfield House, Oakfield Grove, Bristol, UK.
A L GuyattDepartment of Health Sciences, University of Leicester, University Road, Leicester, UK.
T R GauntMRC Integrative Epidemiology Unit at the University of Bristol, University of Bristol, Oakfield House, Oakfield Grove, Bristol, UK.
T KacprowskiDepartment of Functional Genomics, Interfaculty Institute for Genetics and Functional Genomics, University of Greifswald, Greifswald, Germany.
J YangRush Alzheimer's Disease Center and Department of Neurological Sciences, Rush University Medical Center, Chicago, IL, USA.
P L De JagerCenter for Translational and Systems Neuroimmunology, Department of Neurology, Columbia University Medical Center, New York, NY, USA.
L YuRush Alzheimer's Disease Center and Department of Neurological Sciences, Rush University Medical Center, Chicago, IL, USA.
A BergmanDepartment of Systems and Computational Biology, Albert Einstein College of Medicine, Bronx, NY, USA.
R XiaInstitute of Molecular Medicine, The University of Texas Health Science Center at Houston, Houston, TX, USA.
M FornageInstitute of Molecular Medicine, The University of Texas Health Science Center at Houston, Houston, TX, USA.
M F FeitosaDivision of Statistical Genomics, Department of Genetics, Washington University School of Medicine, St. Louis, USA.
M K WojczynskiDivision of Statistical Genomics, Department of Genetics, Washington University School of Medicine, St. Louis, USA.
A T KrajaDivision of Statistical Genomics, Department of Genetics, Washington University School of Medicine, St. Louis, USA.
M A ProvinceDivision of Statistical Genomics, Department of Genetics, Washington University School of Medicine, St. Louis, USA.
N AminDepartment of Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands.
F RivadeneiraDepartment of Internal Medicine, Erasmus Medical Center, Rotterdam, The Netherlands.
H TiemeierDepartment of Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands.
A G UitterlindenDepartment of Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands.
L BroerDepartment of Internal Medicine, Erasmus Medical Center, Rotterdam, The Netherlands.
J B J Van MeursDepartment of Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands.
C M Van DuijnDepartment of Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands.
L M RaffieldDepartment of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
L LangeDepartment of Medicine, University of Colorado Denver, Anschutz Medical Campus, Aurora, CO, USA.
S S RichCenter for Public Health Genomics, University of Virginia, Charlottesville, VA, USA.
R N LemaitreCardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, WA, USA.
M O GoodarziDivision of Endocrinology, Diabetes and Metabolism, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
C M SitlaniCardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, WA, USA.
A C Y MakCardiovascular Research Institute and Institute for Human Genetics, University of California, San Francisco, CA, USA.
D A BennettRush Alzheimer's Disease Center and Department of Neurological Sciences, Rush University Medical Center, Chicago, IL, USA.
S RodriguezMRC Integrative Epidemiology Unit at the University of Bristol, University of Bristol, Oakfield House, Oakfield Grove, Bristol, UK.
J M MurabitoBoston University School of Medicine, Boston University, Boston, MA, USA.
K L LunettaDepartment of Biostatistics, Boston University School of Public Health, Boston, MA, USA.
N SotoodehniaCardiovascular Health Research Unit, Division of Cardiology, University of Washington, Seattle, WA, USA.
G AtzmonDepartment of Natural Science, University of Haifa, Haifa, Israel.
K YeDepartment of Epidemiology and Population Health, Albert Einstein College of Medicine, Bronx, NY, 10461, USA.
N BarzilaiDepartments of Medicine and Genetics, Albert Einstein College of Medicine, Bronx, NY, 10461, USA.
J A BrodyCardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, WA, USA.
B M PsatyCardiovascular Health Research Unit, Departments of Epidemiology, Medicine and Health Services, University of Washington, Seattle, WA, USA.
K 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, USA.
J 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, USA.
E BoerwinkleDepartment of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, Human Genetics Center, The University of Texas Health Science Center at Houston, Houston, TX, USA.
N PankratzDepartment of Laboratory Medicine and Pathology, University of Minnesota Medical School, Minneapolis, MN, USA.
D E ArkingDepartment of Genetic Medicine, McKusick-Nathans Institute, Johns Hopkins University School of Medicine, Baltimore, MD, USA. arking@jhmi.edu.
Erasmus MC · NLUniversity of Washington · USBoston University · USAlbert Einstein College of Medicine · USJohns Hopkins University · USRush University Medical Center · USThe University of Texas Health Science Center at Houston · USUniversity of Bristol · GBUCLA Medical Center · USUniversity of Minnesota Medical Center · USBaylor College of Medicine · USBroad Institute · USCedars-Sinai Medical Center · USMedizinische Hochschule Hannover · DEUniversity of California, San Francisco · USUniversity of Colorado Anschutz Medical Campus · USUniversity of Leicester · GBUniversity of North Carolina at Chapel Hill · USUniversity of Virginia · USWestern University · CA
Funding
CHARGE Consortium: Omics Discovery for CVD and Aging PhenotypesR01HL105756 · NHLBI · UNIVERSITY OF WASHINGTON · PI Bruce M Psaty, NICHOLAS L SMITH · 2011 to 2026
$9.5MMitochondrial 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
$2.4MMedical Research Council G9815508Medical Research Council MC_PC_15018Medical Research Council MC_PC_17228Medical Research Council MC_PC_19009Medical Research Council MC_QA137853Medical Research Council MC_UU_00011/4Medical Research Council MR/K002767/1NHLBI NIH HHS R01 HL105756NHLBI NIH HHS R01 HL131573NHLBI NIH HHS R01HL13573NHLBI NIH HHS R01 HL144569NHLBI NIH HHS R01HL144569NHLBI NIH HHS R01 HL155569NIA NIH HHS R01 AG059727
Abstract
Mitochondrial DNA copy number (mtDNA-CN) measured from blood specimens is a minimally invasive marker of mitochondrial function that exhibits both inter-individual and intercellular variation. To identify genes involved in regulating mitochondrial function, we performed a genome-wide association study (GWAS) in 465,809 White individuals from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium and the UK Biobank (UKB). We identified 133 SNPs with statistically significant, independent effects associated with mtDNA-CN across 100 loci. A combination of fine-mapping, variant annotation, and co-localization analyses was used to prioritize genes within each of the 133 independent sites. Putative causal genes were enriched for known mitochondrial DNA depletion syndromes (p = 3.09 × 10
Indexed as
DNA Copy Number VariationsDNA, MitochondrialPlatelet ActivationPolymorphism, Single NucleotideAgedCell ProliferationFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMaleMegakaryocytesMiddle AgedMitochondriaNucleotidesPhenotypeDNA, MitochondrialNucleotides
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