SynthesisScientific reports2017
MtDNA meta-analysis reveals both phenotype specificity and allele heterogeneity: a model for differential association.
Synthesis in Scientific reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
31 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Meta-analysis ofInternational journal of immunopathology and pharmacologyPooled it
- Trial
- The need to understand the underlying mechanisms associated with mitochondrial therapies in assisted reproduction before further clinical trials are performed.Human reproduction (Oxford, England) · 2026Review
- The nuclear and mitochondrial genomes need to tango. How is their dance synchronized during development?NAR molecular medicine · 2026Article
- Mitochondrial ecosystem restoration in Alzheimer's disease: from mechanisms to multi-target therapeutic strategies.Frontiers in cell and developmental biology · 2026Review
- The intersection of mitochondria, lipids, and ferroptosis: a new avenue for dry age-related macular degeneration.Apoptosis : an international journal on programmed cell death · 2025Review
- Review
- The role of mtDNA in oocyte quality and embryo development.Molecular reproduction and development · 2023Review
- Characterization of the Mitochondrial Genetic Landscape in Abdominal Aortic Aneurysm.Journal of the American Heart Association · 2023Article
- Article
- Human mitochondrial RNA modifications associate with tissue-specific changes in gene expression, and are affected by sunlight and UV exposure.European journal of human genetics : EJHG · 2022Article
- Altered Retrograde Signaling Patterns in Breast Cancer Cells Cybrids with H and J Mitochondrial DNA Haplogroups.International journal of molecular sciences · 2022Article
- Interactions between nuclear and mitochondrial SNPs and Parkinson's disease risk.Mitochondrion · 2022Article
- Genome-wide analysis of mitochondrial DNA copy number reveals loci implicated in nucleotide metabolism, platelet activation, and megakaryocyte proliferation.Human genetics · 2022Article
- Mitochondrial haplogroups have a better correlation to insulin requirement than nuclear genetic variants for type 2 diabetes mellitus in Taiwanese individuals.Journal of diabetes investigation · 2022Article
- The subtle long-lasting burden of mitochondrial DNA variants.Nature reviews. Nephrology · 2022Article
- Conplastic strains for identification of retrograde effects of mitochondrial dna variation on cardiometabolic traits in the spontaneously hypertensive rat.Physiological research · 2021Review
- Mitochondrial DNA variants modulate N-formylmethionine, proteostasis and risk of late-onset human diseases.Nature medicine · 2021Article
- Mitochondrial DNA variation and cancer.Nature reviews. Cancer · 2021Review
- Mitochondrial haplogroups and lifespan in a population isolate.Mitochondrion · 2020Article
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Authors and funding
3 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Human mtDNA genetic variants have traditionally been considered markers for ancient population migrations. However, during the past three decades, these variants have been associated with altered susceptibility to various phenotypes, thus supporting their importance for human health. Nevertheless, mtDNA disease association has frequently been supported only in certain populations, due either to population stratification or differential epistatic compensations among populations. To partially overcome these obstacles, we performed meta-analysis of the multiple mtDNA association studies conducted until 2016, encompassing 53,975 patients and 63,323 controls. Our findings support the association of mtDNA haplogroups and recurrent variants with specific phenotypes such as Parkinson's disease, type 2 diabetes, longevity, and breast cancer. Strikingly, our assessment of mtDNA variants' involvement with multiple phenotypes revealed significant impact for Caucasian haplogroups H, J, and K. Therefore, ancient mtDNA variants could be divided into those that affect specific phenotypes, versus others with a general impact on phenotype combinations. We suggest that the mtDNA could serve as a model for phenotype specificity versus allele heterogeneity.
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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.