The DOI matches its Crossref record; 68 of the 68 references it cites were found in a registry or an index.
Recent Mitochondrial DNA Mutations Increase the Risk of Developing Common Late-Onset Human Diseases
Open accessAbstract
Mitochondrial DNA (mtDNA) is highly polymorphic at the population level, and specific mtDNA variants affect mitochondrial function. With emerging evidence that mitochondrial mechanisms are central to common human diseases, it is plausible that mtDNA variants contribute to the "missing heritability" of several complex traits. Given the central role of mtDNA genes in oxidative phosphorylation, the same genetic variants would be expected to alter the risk of developing several different disorders, but this has not been shown to date. Here we studied 38,638 individuals with 11 major diseases, and 17,483 healthy controls. Imputing missing variants from 7,729 complete mitochondrial genomes, we captured 40.41% of European mtDNA variation. We show that mtDNA variants modifying the risk of developing one disease also modify the risk of developing other diseases, thus providing independent replication of a disease association in different case and control cohorts. High-risk alleles were more common than protective alleles, indicating that mtDNA is not at equilibrium in the human population, and that recent mutations interact with nuclear loci to modify the risk of developing multiple common diseases.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Figures
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
In the citing paper
“Aberrant mitochondrial functioning has been implicated in the pathogenesis of idiopathic PD with genetic analysis focusing on age-related mtDNA mutations (Bender et al., 2006; Coxhead et al., 2015; Hudson et al., 2014; Keogh and Chinnery, 2015; Kraytsberg et al., 2006).”
From Role of the mitochondrial DNA replication machinery in mitochondrial DNA mutagenesis, aging and age-related diseases (2017) · cites this paper as Hudson et al., 2014
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
R: A Language and Environment for Statistical Computing
R Core Team (2000) · doi:10.32614/r.manuals · Cited by 355,893
PLINK: a tool set for whole-genome association and population-based linkage analyses.
Purcell, S., Neale, B., Todd-Brown, K., Thomas, L., Ferreira, M. A. R., Bender, D., Maller, J., Sklar, P., de Bakker, P. I. W., Daly, M. J., et al. (2007) · The American Journal of Human Genetics · doi:10.1086/519795 · Cited by 34,089
2013 ESH/ESC Guidelines for the management of arterial hypertension
Authors Task Force Members, Mancia, G., Fagard, R., Narkiewicz, K., Redon, J., Zanchetti, A., Böhm, M., Christiaens, T., Cífková, R., Backer, G. D., et al. (2013) · European Heart Journal · doi:10.1093/eurheartj/eht151 · Cited by 13,739
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls
The Wellcome Trust Case Control Consortium, Management Committee, Burton, P. R., Clayton, D. G., Cardon, L. R., Craddock, N., Deloukas, P., Duncanson, A., Kwiatkowski, D. P., McCarthy, M. I., et al. (2007) · Nature · doi:10.1038/nature05911 · Cited by 9,442
MUSCLE: a multiple sequence alignment method with reduced time and space complexity
Edgar, R. C. (2004) · BMC Bioinformatics · doi:10.1186/1471-2105-5-113 · Cited by 9,119
Epidemiology of Parkinson's disease
de Lau, L. M., & Breteler, M. M. (2006) · The Lancet Neurology · doi:10.1016/s1474-4422(06)70471-9 · Cited by 4,110
Podolsky, D. K. (2002) · New England Journal of Medicine · doi:10.1056/nejmra020831 · Cited by 3,183
The Wellcome Trust Case Control Consortium, U.K.
Mossman, K. (2008) · Scientific American · doi:10.1038/scientificamerican0108-42a · Cited by 2,714
Purcell, S., Cherny, S. S., & Sham, P. C. (2003) · Bioinformatics · doi:10.1093/bioinformatics/19.1.149 · Cited by 2,057
Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation
van Oven, M., & Kayser, M. (2009) · Human Mutation · doi:10.1002/humu.20921 · Cited by 1,810
Cited by
Sorted by citations
The dynamics of mitochondrial DNA heteroplasmy: implications for human health and disease
Stewart, J. B., & Chinnery, P. F. (2015) · Nature Reviews Genetics · doi:10.1038/nrg3966 · Cited by 1,041
The rise of mitochondria in medicine
Picard, M. A., Wallace, D. C., & Burelle, Y. (2016) · Mitochondrion · doi:10.1016/j.mito.2016.07.003 · Cited by 475
Mitochondrial dysfunction in schizophrenia: Pathways, mechanisms and implications
Rajasekaran, A., Venkatasubramanian, G., Berk, M., & Debnath, M. (2014) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2014.11.005 · Cited by 286
Reduced mitochondrial DNA copy number is a biomarker of Parkinson's disease
Pyle, A., Anugrha, H., Kurzawa‐Akanbi, M., Yarnall, A. J., Burn, D. J., & Hudson, G. (2015) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2015.10.033 · Cited by 258
Extreme heterogeneity of human mitochondrial DNA from organelles to populations
Stewart, J. B., & Chinnery, P. F. (2020) · Nature Reviews Genetics · doi:10.1038/s41576-020-00284-x · Cited by 260
Metadata
- Authors
- Hudson, G., Gomez-Duran, A., Wilson, I. J., & Chinnery, P. F.
- Affiliations
- Wellcome Centre for Mitochondrial Research (GB)
- Corresponding author
- Chinnery, Patrick F.
- Venue
- PLoS Genetics
- Publisher
- Public Library of Science (PLoS)
- Published
- 2014-05-22
- Volume
- 10
- Issue
- 5
- Pages
- e1004369
- ISSN
- 1553-7390 (ISSN-L)
- 1553-7404
- PMC
- PMC4031051
- OpenAlex
- W1987954830
- Cited by
- 148
- References
- 68
- Citations by year
- 2026: 2 · 2025: 4 · 2024: 8 · 2023: 11 · 2022: 8 · 2021: 16 · 2020: 20 · 2019: 11 · 2018: 22 · 2017: 15 · 2016: 12 · 2015: 15 · 2014: 4
- FWCI
- 9.95
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Locations
- PLoS Genetics (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Figshare (submittedVersion, cc-by)
- Newcastle University ePrints (Newcastle Univesity) (cc-by)
- Funders
- Wellcome Trust (EU-FP7-, 096919, 096919/Z/11/Z, 101876/B/13/Z, G0000934, 10187 6/Z/13/Z, 101876, 068545, G0601943)
- National Institute for Health and Care Research (G0000934, 101876/Z/13/Z, G0601943)
- Parkinson's UK (F-1202)
- Newcastle University
- Henry Smith Charity
- Newcastle upon Tyne Hospitals NHS Foundation Trust
- Medical Research Council (MR/K000608/1, G0601943, G0000934, EU FP7)
- NIHR Newcastle Biomedical Research Centre
- Wellcome Trust Centre for Mitochondrial Research (096919Z/11/Z)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Mitochondrial Function and Pathology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Forensic and Genetic Research
- Keywords
- mitochondrial DNA variants, late-onset disease, missing heritability, disease risk, mitochondrial genome, oxidative phosphorylation, nuclear-mitochondrial interactions
- MeSH terms
- Brain Ischemia, Colitis, Ulcerative, DNA, Mitochondrial, Humans, Liver Cirrhosis, Biliary, Multiple Sclerosis, Mutation, Oxidative Phosphorylation, Parkinson Disease, Phylogeny, Schizophrenia, Spondylitis, Ankylosing
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
