ArticleCommunications biology2020
Genetic and phenotypic landscape of the mitochondrial genome in the Japanese population.
Article in Communications biology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 46 citations in OpenAlex.
- A large-scale multi-ancestry mitochondrial variant association analysis for cardiometabolic traits.Nature communications · 2026Article
- Mitochondrial variation in Taiwan Biobank reveals ancestry structure and trait associations.iScience · 2025Article
- Mitochondrial Genome Variants and Nuclear Mitochondrial DNA Segments in 7331 Individuals from NyuWa and 1KGP.Genomics, proteomics & bioinformatics · 2025Article
- Preventing excessive autophagy protects from the pathology of mtDNA mutations in Drosophila melanogaster.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
- Article
- mtDNA "nomenclutter" and its consequences on the interpretation of genetic data.BMC ecology and evolution · 2024Article
- High prevalence of m.1555A > G in patients with hearing loss in the Baikal Lake region of Russia as a result of founder effect.Scientific reports · 2024Article
- Review
- Mitochondrial genetic variation and risk of chronic kidney disease and acute kidney injury in UK Biobank participants.Human genetics · 2024Article
- Association of mitochondrial DNA variation with high myopia in a Han Chinese population.Molecular genetics and genomics : MGG · 2023Article
- Precision mitochondrial medicine.Cambridge prisms. Precision medicine · 2023Review
- Article
- Interactions between nuclear and mitochondrial SNPs and Parkinson's disease risk.Mitochondrion · 2022Article
- The frequency of the known mitochondrial variants associated with drug-induced toxicity in a Korean population.BMC medical genomics · 2022Article
- Human genetic analyses of organelles highlight the nucleus in age-related trait heritability.eLife · 2021Article
- Population inference based on mitochondrial DNA control region data by the nearest neighbors algorithm.International journal of legal medicine · 2021Article
- An atlas of mitochondrial DNA genotype-phenotype associations in the UK Biobank.Nature genetics · 2021Article
- Advances in Genomic Discovery and Implications for Personalized Prevention and Medicine: Estonia as Example.Journal of personalized medicine · 2021Review
- Extreme heterogeneity of human mitochondrial DNA from organelles to populations.Nature reviews. Genetics · 2021Review
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The genetic landscape of mitochondrial DNA (mtDNA) has been elusive. By analyzing mtDNA using the whole genome sequence (WGS) of Japanese individuals (n = 1928), we identified 2023 mtDNA variants and high-resolution haplogroups. Frequency spectra of the haplogroups were population-specific and were heterogeneous among geographic regions within Japan. Application of machine learning methods could finely classify the subjects corresponding to the high-digit mtDNA sub-haplogroups. mtDNA had distinct genetic structures from that of nuclear DNA (nDNA), characterized by no distance-dependent linkage disequilibrium decay, sparse tagging of common variants, and the existence of common haplotypes spanning the entire mtDNA. We did not detect any evidence of mtDNA-nDNA (or mtDNA copy number-nDNA) genotype associations. Together with WGS-based mtDNA variant imputation, we conducted a phenome-wide association study of 147,437 Japanese individuals with 99 clinical phenotypes. We observed pleiotropy of mtDNA genetic risk on the five late-onset human complex traits including creatine kinase (P = 1.7 × 10
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