ArticleMitochondrion2021
Presence and transmission of mitochondrial heteroplasmic mutations in human populations of European and African ancestry.
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Article in Mitochondrion, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
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18citing papers in PubMed, 1 pooled it
1.2field-weighted citation impact, top 21% of its field
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Who cites it
18 citing papers in PubMed, 1 synthesis or guideline pooled it, 22 citations in OpenAlex.
- A systematic review on the biochemical threshold of mitochondrial genetic variants.Genome research · 2024Pooled it
- Mitochondrial genetic variation across tissues of the human body.Nucleic acids research · 2026Article
- Mitochondrial heteroplasmy is a risk factor for the development of chronic lymphocytic leukemia.Nature communications · 2026Article
- ASSOCIATION ANALYSIS OF MITOCHONDRIAL HETEROPLASMIC VARIANTS AND CARDIOMETABOLIC TRAITS.medRxiv : the preprint server for health sciences · 2026Article
- Article
- 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
- Single-Cell Mitochondrial DNA Analysis of Recombinant Chinese Hamster Ovary Cells Reveals Widespread Heteroplasmy.Biotechnology journal · 2025Article
- Mitochondrial DNA copy number associated dementia risk by somatic mutations and frailty.GeroScience · 2025Article
- Mitochondrial heteroplasmy improves risk prediction for myeloid neoplasms.Nature communications · 2024Article
- Genetic landscape of primary mitochondrial diseases in children and adults using molecular genetics and genomic investigations of mitochondrial and nuclear genome.Orphanet journal of rare diseases · 2024Article
- Association analysis of mitochondrial DNA heteroplasmic variants: Methods and application.Mitochondrion · 2024Article
- Selection promotes age-dependent degeneration of the mitochondrial genome.bioRxiv : the preprint server for biology · 2024Article
- Variability of Mitochondrial DNA Heteroplasmy: Association with Asymptomatic Carotid Atherosclerosis.Biomedicines · 2024Article
- A naturally occurring variant of SHLP2 is a protective factor in Parkinson's disease.Molecular psychiatry · 2024Article
- Association analysis of mitochondrial DNA heteroplasmic variants: methods and application.medRxiv : the preprint server for health sciences · 2024Article
- Deleterious heteroplasmic mitochondrial mutations are associated with an increased risk of overall and cancer-specific mortality.Nature communications · 2023Article
- Gaining Insight into Mitochondrial Genetic Variation and Downstream Pathophysiology: What Can i(PSCs) Do?Genes · 2021Review
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Authors and funding
20 authors at 8 institutions in 1 country.
Chunyu LiuDepartment of Biostatistics, School of Public Health, Boston University, Boston, MA 02118, USA. Electronic address: liuc@bu.edu.
Jessica L FettermanEvans Department of Medicine and Whitaker Cardiovascular Institute, School of Medicine, Boston University, Boston, MA 20118, USA.
Yong QianLongitudinal Studies Section, Translational Gerontology Branch, NIA/NIH, Baltimore, MD 21224, USA.
Xianbang SunDepartment 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.
Achilleas PitsillidesDepartment of Biostatistics, School of Public Health, Boston University, Boston, MA 02118, USA.
Brian E CadeDivision of Sleep and Circadian Disorders, Department of Medicine, Brigham and Women's Hospital, Boston, MA 02115, USA; Division of Sleep Medicine, Harvard Medical School, Boston, MA 02115, USA.
Heming WangDivision of Sleep and Circadian Disorders, Department of Medicine, Brigham and Women's Hospital, Boston, MA 02115, USA; Division of Sleep Medicine, Harvard Medical School, Boston, MA 02115, USA.
Laura M RaffieldDepartment of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27514, USA.
Leslie A LangeSchool of Medicine, University of Colorado, Anschutz Medical Campus, Aurora, CO 80045, USA.
Pramod AnuguCoordinating Center, University of Mississippi of Medical Center, Jackson, MS 39216, USA.
Goncalo AbecasisTOPMed Informatics Research Center, University of Michigan, Ann Arbor, MI 48109, USA.
L Adrienne CupplesDepartment of Biostatistics, School of Public Health, Boston University, Boston, MA 02118, USA.
Susan RedlineDivision of Sleep and Circadian Disorders, Department of Medicine, Brigham and Women's Hospital, Boston, MA 02115, USA; Division of Sleep Medicine, Harvard Medical School, Boston, MA 02115, USA.
Adolfo CorreaDepartment of Medicine, University of Mississippi Medical Center, Jackson, MS, 39216, USA.
Ramachandran S VasanFramingham Heart Study, Framingham, MA 01702, USA; Sections of Preventive Medicine and Epidemiology, and Cardiovascular Medicine, Boston University School of Medicine, Boston, MA 02118, USA.
James G WilsonDepartment of Physiology and Biophysics, University of Mississippi Medical Center, Jackson, MS 39216, USA.
Jun DingLongitudinal Studies Section, Translational Gerontology Branch, NIA/NIH, Baltimore, MD 21224, USA.
Daniel LevyFramingham Heart Study, Framingham, MA 01702, USA; Population Sciences Branch, NHLBI/NIH, Bethesda, MD 20892, USA.
NHLBI Trans-Omics for Precision Medicine TOPMed Consortium
Boston University · USBrigham and Women's Hospital · USJackson Memorial Hospital · USUniversity of Michigan · USNational Institutes of Health · USUniversity of Colorado Anschutz Medical Campus · USUniversity of Mississippi Medical Center · USUniversity of North Carolina at Chapel Hill · US
Funding
Framingham Project/LevyZIAHL006001 · NHLBI · NATIONAL HEART, LUNG, AND BLOOD INSTITUTE · PI LEVY, DANIEL · 2009 to 2025
$51.1MStatistical genetics of aging-related genomic and phenotypic changeZIAAG000693 · NIA · NATIONAL INSTITUTE ON AGING · PI DING, JUN · 2011 to 2025
$12.5MStudies of Rare Genetic Variation in the Isolated Population of SardiniaR01HL117626 · NHLBI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI ABECASIS, GONCALO · 2013 to 2016
$10.5MRare variants and NHLBI traits in deeply phenotyped cohortsR01HL120393 · NHLBI · UNIVERSITY OF WASHINGTON · PI PSATY, BRUCE M, RICE, KENNETH M. · 2014 to 2016
$8.9MRare variants and NHLBI traits in deeply phenotyped cohortsU01HL120393 · NHLBI · UNIVERSITY OF WASHINGTON · PI PSATY, BRUCE M, RICE, KENNETH M. · 2017 to 2018
$5.6MMitochondrial 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
$2.4MDissecting heterogeneity of excessive daytime sleepiness and impact on cardiovascular diseasesR01HL153814 · NHLBI · BRIGHAM AND WOMEN'S HOSPITAL · PI WANG, HEMING · 2021 to 2025
$2.0MRelations of Mitochondrial Genetic Variation and Function with Atrial FibrillationK01HL143142 · NHLBI · BOSTON UNIVERSITY MEDICAL CAMPUS · PI FETTERMAN, JESSICA L · 2019 to 2023
$757kWhole Genomic Characterization of Sleep Apnea Traits and Comorbid DisordersK01HL135405 · NHLBI · BRIGHAM AND WOMEN'S HOSPITAL · PI CADE, BRIAN EDMAND · 2017 to 2020
$695kAnalysis of Heteroplasmic mtDNA Mutations in Whole Genome Sequencing: Methods and Application to Cardiometabolic Disease TraitsR21HL144877 · NHLBI · BOSTON UNIVERSITY MEDICAL CAMPUS · PI LIU, CHUNYU · 2019 to 2020
$246kIdentifying Contributions of Pulmonary Inflammation to Sleep-Disordered BreathingR03HL154284 · NHLBI · BRIGHAM AND WOMEN'S HOSPITAL · PI CADE, BRIAN EDMAND · 2020 to 2021
$179kNHLBI NIH HHS HHSN268201800001CNHLBI NIH HHS K01 HL135405NHLBI NIH HHS K01 HL143142NHLBI NIH HHS R01 HL117626NHLBI NIH HHS R01 HL120393NHLBI NIH HHS R01 HL153814NHLBI NIH HHS R01 HL155569NHLBI NIH HHS R03 HL154284NHLBI NIH HHS R21 HL144877NHLBI NIH HHS U01 HL120393NIA NIH HHS R01 AG059727
Abstract
We investigated the concordance of mitochondrial DNA heteroplasmic mutations (heteroplasmies) in 6745 maternal pairs of European (EA, n = 4718 pairs) and African (AA, n = 2027 pairs) Americans in whole blood. Mother-offspring pairs displayed the highest concordance rate, followed by sibling-sibling and more distantly-related maternal pairs. The allele fractions of concordant heteroplasmies exhibited high correlation (R
Indexed as
HeteroplasmyBlack PeopleDNA, MitochondrialGenome-Wide Association StudyHumansMitochondriaMutationWhite PeopleWhole Genome SequencingDNA, MitochondrialHeteroplasmyInheritanceMitochondrial DNASomatic mutationTransmission
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