ArticleHGG advances2023
The genetic and phenotypic correlates of mtDNA copy number in a multi-ancestry cohort.
Article in HGG advances, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
What it found
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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.
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Who cites it
9 citing papers in PubMed, 7 citations in OpenAlex.
- Large-scale admixture mapping in the All of Us Research Program improves the characterization of cross-population phenotypic differences.Nature communications · 2026Article
- Article
- Association of mitochondrial DNA haplogroup, oxidative DNA damage and inflammatory markers in middle-aged adults.International journal of radiation biology · 2026Article
- Article
- Hidden structure in polygenic scores and the challenge of disentangling ancestry interactions in admixed populations.Genetics · 2025Article
- Cross-ancestral GWAS identifies 29 variants across head and neck cancer subsites.Nature communications · 2025Article
- Intractable epilepsy in m.1630A>G carriers should be treated with a ketogenic diet on a trial basis.Translational pediatrics · 2025Article
- Blood-derived mitochondrial DNA copy number is associated with Alzheimer disease, Alzheimer-related biomarkers and serum metabolites.Alzheimer's research & therapy · 2024Article
- Nuclear and mitochondrial genetic variants associated with mitochondrial DNA copy number.Scientific reports · 2024Article
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
Abstract
Mitochondrial DNA copy number (mtCN) is often treated as a proxy for mitochondrial (dys-) function and disease risk. Pathological changes in mtCN are common symptoms of rare mitochondrial disorders, but reported associations between mtCN and common diseases vary across studies. To understand the biology of mtCN, we carried out genome- and phenome-wide association studies of mtCN in 30,666 individuals from the Penn Medicine BioBank (PMBB)-a diverse cohort of largely African and European ancestry. We estimated mtCN in peripheral blood using exome sequence data, taking cell composition into account. We replicated known genetic associations of mtCN in the PMBB and found that their effects are highly correlated between individuals of European and African ancestry. However, the heritability of mtCN was much higher among individuals of largely African ancestry
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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 Socratic graph.