ArticleNature genetics2021
An atlas of mitochondrial DNA genotype-phenotype associations in the UK Biobank.
Article in Nature genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 70 papers, 2 of them syntheses that pooled it.
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Who cites it
70 citing papers in PubMed, 2 syntheses or guidelines pooled it, 128 citations in OpenAlex.
- Comprehensive summary of mitochondrial DNA alterations in the postmortem human brain: A systematic review.EBioMedicine · 2022Pooled it
- Human studies of mitochondrial biology demonstrate an overall lack of binary sex differences: A multivariate meta-analysis.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2022Pooled it
- Energy constraint on human health.Trends in endocrinology and metabolism: TEM · 2026Review
- Multimodal deep learning enhances genomic risk prediction for cardiometabolic diseases.Briefings in bioinformatics · 2026Article
- Shifting the Balance: Mitochondrial Heteroplasmy as a Driver of Cardiac Disease.Circulation research · 2026Review
- A large-scale multi-ancestry mitochondrial variant association analysis for cardiometabolic traits.Nature communications · 2026Article
- Enrichment of Rare Mitochondrial DNA Variants Among Individuals With Kidney Disease Reveals Undiagnosed Mitochondrial Disease.Kidney international reports · 2026Article
- Mechanisms and disease relevance of mitochondrial translation in humans.Nature reviews. Molecular cell biology · 2026Review
- Nuclear genetic modulation of tissue-specific mitochondrial RNA processing contributes to common disease risk.Nature communications · 2026Article
- Mitochondrial-derived microproteins in lung disease: insights and implications.American journal of physiology. Lung cellular and molecular physiology · 2026Review
- Associations of Blood Mitochondrial DNA Quality and Quantity with Risk of Kidney Function Decline.Clinical journal of the American Society of Nephrology : CJASN · 2026Article
- Mitochondrial variation in Taiwan Biobank reveals ancestry structure and trait associations.iScience · 2025Article
- The bottleneck for maternal transmission of mtDNA is linked to purifying selection by autophagy.Science advances · 2025Article
- Testing the Mother's Curse Hypothesis in Human Mitochondrial Genome Evolution.Genome biology and evolution · 2025Article
- Mitochondrial Genome Variants and Nuclear Mitochondrial DNA Segments in 7331 Individuals from NyuWa and 1KGP.Genomics, proteomics & bioinformatics · 2025Article
- Contributions of inherited mtDNA to longevity: evidence from extended pedigrees with 176 million kinship pairs.EBioMedicine · 2025Article
- Pathogenic morphological signatures of perturbations in mitochondrial-related genes revealed by pooled imaging assay.Npj imaging · 2025Article
- LONP1 regulation of mitochondrial protein folding provides insight into beta cell failure in type 2 diabetes.Nature metabolism · 2025Article
- Extracellular Vesicle Mitochondrial DNA Levels Are Associated With Chronic Kidney Disease and Mitochondrial Haplogroup in Obese Individuals.Journal of extracellular biology · 2025Article
- Retrograde mitochondrial signaling governs the identity and maturity of metabolic tissues.Science (New York, N.Y.) · 2025Article
10 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
8 authors at 1 institution in 4 countries.
Funding
Abstract
Mitochondrial DNA (mtDNA) variation in common diseases has been underexplored, partly due to a lack of genotype calling and quality-control procedures. Developing an at-scale workflow for mtDNA variant analyses, we show correlations between nuclear and mitochondrial genomic structures within subpopulations of Great Britain and establish a UK Biobank reference atlas of mtDNA-phenotype associations. A total of 260 mtDNA-phenotype associations were new (P < 1 × 10
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Registered trials
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.