ArticleHuman genomics2019
A genome-wide association study of mitochondrial DNA copy number in two population-based cohorts.
Article in Human genomics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 44 citations in OpenAlex.
- Mitochondrial dysfunction, a new marker warning of neuropsychiatric disorder risk: evidence from genetics and epidemiology.Annals of general psychiatry · 2025Article
- The Ubiquitin-Proteasome System in Asthma: Mechanisms and Therapeutic Possibilities.Clinical reviews in allergy & immunology · 2025Review
- Detecting mtDNA Effects with an Extended Pedigree Model: An Analysis of Statistical Power and Estimation Bias.Behavior genetics · 2025Article
- Analysis of Mutational Burden of Mitochondrial Genome in Cells of Different Human Organs and Tissues.Current medicinal chemistry · 2025Review
- Blood-derived mitochondrial DNA copy number is associated with Alzheimer disease, Alzheimer-related biomarkers and serum metabolites.Alzheimer's research & therapy · 2024Article
- Review
- Nuclear and mitochondrial genetic variants associated with mitochondrial DNA copy number.Scientific reports · 2024Article
- White Matter Imaging Phenotypes Mediate the Negative Causality of Mitochondrial DNA Copy Number on Sleep Apnea: A Bidirectional Mendelian Randomization Study and Mediation Analysis.Nature and science of sleep · 2024Article
- Review
- ANKLE1 cleaves mitochondrial DNA and contributes to cancer risk by promoting apoptosis resistance and metabolic dysregulation.Communications biology · 2023Article
- Mitochondrial DNA copy number in autism spectrum disorder and attention deficit hyperactivity disorder: a systematic review and meta-analysis.Frontiers in psychiatry · 2023Review
- Influence of environmental factors and genetic variation on mitochondrial DNA copy number.Journal of animal science · 2022Article
- Examining the Association between Mitochondrial Genome Variation and Coronary Artery Disease.Genes · 2022Article
- Article
- Reduced leukocyte mitochondrial copy number in metabolic syndrome and metabolically healthy obesity.Frontiers in endocrinology · 2022Article
- Genome-wide analysis of mitochondrial DNA copy number reveals loci implicated in nucleotide metabolism, platelet activation, and megakaryocyte proliferation.Human genetics · 2022Article
- Mitochondrial genome copy number measured by DNA sequencing in human blood is strongly associated with metabolic traits via cell-type composition differences.Human genomics · 2021Article
- Nuclear genome-wide associations with mitochondrial heteroplasmy.Science advances · 2021Article
- Extreme heterogeneity of human mitochondrial DNA from organelles to populations.Nature reviews. Genetics · 2021Review
- Single-Cell Approaches for Studying the Role of Mitochondrial DNA in Neurodegenerative Disease.Methods in molecular biology (Clifton, N.J.) · 2021Article
Corrections and comments
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Authors and funding
13 authors at 5 institutions in 1 country.
Funding
Abstract
backgroundMitochondrial DNA copy number (mtDNA CN) exhibits interindividual and intercellular variation, but few genome-wide association studies (GWAS) of directly assayed mtDNA CN exist. We undertook a GWAS of qPCR-assayed mtDNA CN in the Avon Longitudinal Study of Parents and Children (ALSPAC) and the UK Blood Service (UKBS) cohort. After validating and harmonising data, 5461 ALSPAC mothers (16-43 years at mtDNA CN assay) and 1338 UKBS females (17-69 years) were included in a meta-analysis. Sensitivity analyses restricted to females with white cell-extracted DNA and adjusted for estimated or assayed cell proportions. Associations were also explored in ALSPAC children and UKBS males.
resultsA neutrophil-associated locus approached genome-wide significance (rs709591 [MED24], β (change in SD units of mtDNA CN per allele) [SE] - 0.084 [0.016], p = 1.54e-07) in the main meta-analysis of adult females. This association was concordant in magnitude and direction in UKBS males and ALSPAC neonates. SNPs in and around ABHD8 were associated with mtDNA CN in ALSPAC neonates (rs10424198, β [SE] 0.262 [0.034], p = 1.40e-14), but not other study groups. In a meta-analysis of unrelated individuals (N = 11,253), we replicated a published association in TFAM (β [SE] 0.046 [0.017], p = 0.006), with an effect size much smaller than that observed in the replication analysis of a previous in silico GWAS.
conclusionsIn a hypothesis-generating GWAS, we confirm an association between TFAM and mtDNA CN and present putative loci requiring replication in much larger samples. We discuss the limitations of our work, in terms of measurement error and cellular heterogeneity, and highlight the need for larger studies to better understand nuclear genomic control of mtDNA copy number.
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