ArticleHuman genetics2021
Deciphering the genetic and epidemiological landscape of mitochondrial DNA abundance.
Article in Human genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 56 papers, 1 of them a synthesis that pooled it.
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Who cites it
56 citing papers in PubMed, 1 synthesis or guideline pooled it, 89 citations in OpenAlex.
- Mitochondrial DNA copy number is associated with Crohn's disease: a comprehensive Mendelian randomization analysis.Scientific reports · 2023Pooled it
- Relative Leukocyte Telomere Length Is Associated with Multimorbidity Burden in Older Adults: Evidence for Sex-Specific Associations.International journal of molecular sciences · 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
- Advances in Elucidating the Mitochondrial DNA Mechanisms Underlying Ozone-Induced Inflammation.Toxics · 2026Review
- Article
- Mitochondrial dysfunction, a new marker warning of neuropsychiatric disorder risk: evidence from genetics and epidemiology.Annals of general psychiatry · 2025Article
- Cross-ancestral GWAS identifies 29 variants across head and neck cancer subsites.Nature communications · 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
- Leveraging multiomic approaches to elucidate mechanisms of heterogeneity in Alzheimer's disease: Neuropsychiatric symptoms, co-pathologies, and sex differences.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025Review
- Addressing Sex as a Biological Variable in Preclinical Models of Lung Disease: An Official American Thoracic Society Research Statement.American journal of respiratory and critical care medicine · 2025Article
- Differential ER stress responses during lactation and postpartum outcomes in mice depending on their mitochondrial genotype.Nature communications · 2025Article
- MR analysis reveals no causal association between mitochondrial DNA copy number and osteoporosis.Scientific reports · 2025Article
- Dynamics of mitochondrial DNA copy number regulation in relation to gastric cancer survival.Discover oncology · 2025Article
- Metabolomics biomarkers of frailty: a longitudinal study of aging female and male mice.npj aging · 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
- Mitochondrial genetics, signalling and stress responses.Nature cell biology · 2025Review
- The Role of Mitochondrial DNA Copy Number in Neurodevelopmental Disorders: A Bidirectional Two-Sample Mendelian Randomization Study.Psychology research and behavior management · 2025Article
- Mitochondrial DNA copy number and the risk of autoimmune diseases: A Mendelian randomization study with meta-analysis.Journal of translational autoimmunity · 2024Article
- Peripheral immune cell abundance differences link blood mitochondrial DNA copy number and Parkinson's disease.NPJ Parkinson's disease · 2024Article
Corrections and comments
- Erratum issued
Authors and funding
5 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mitochondrial (MT) dysfunction is a hallmark of aging and has been associated with most aging-related diseases as well as immunological processes. However, little is known about aging, lifestyle and genetic factors influencing mitochondrial DNA (mtDNA) abundance. In this study, mtDNA abundance was estimated from the weighted intensities of probes mapping to the MT genome in 295,150 participants from the UK Biobank. We found that the abundance of mtDNA was significantly elevated in women compared to men, was negatively correlated with advanced age, higher smoking exposure, greater body-mass index, higher frailty index as well as elevated red and white blood cell count and lower mortality. In addition, several biochemistry markers in blood-related to cholesterol metabolism, ion homeostasis and kidney function were found to be significantly associated with mtDNA abundance. By performing a genome-wide association study, we identified 50 independent regions genome-wide significantly associated with mtDNA abundance which harbour multiple genes involved in the immune system, cancer as well as mitochondrial function. Using mixed effects models, we estimated the SNP-heritability of mtDNA abundance to be around 8%. To investigate the consequence of altered mtDNA abundance, we performed a phenome-wide association study and found that mtDNA abundance is involved in risk for leukaemia, hematologic diseases as well as hypertension. Thus, estimating mtDNA abundance from genotyping arrays has the potential to provide novel insights into age- and disease-relevant processes, particularly those related to immunity and established mitochondrial functions.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.