ArticleBioData mining2014
Investigating the relationship between mitochondrial genetic variation and cardiovascular-related traits to develop a framework for mitochondrial phenome-wide association studies.
Article in BioData mining, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 22 citations in OpenAlex.
- Evolution, genetic diversity, and health.Nature medicine · 2025Review
- Review
- Conplastic strains for identification of retrograde effects of mitochondrial dna variation on cardiometabolic traits in the spontaneously hypertensive rat.Physiological research · 2021Review
- An atlas of mitochondrial DNA genotype-phenotype associations in the UK Biobank.Nature genetics · 2021Article
- Unbiased Phenome-Wide Association Studies of Red Cell Distribution Width Identifies Key Associations with Pulmonary Hypertension.Annals of the American Thoracic Society · 2019Article
- PheProb: probabilistic phenotyping using diagnosis codes to improve power for genetic association studies.Journal of the American Medical Informatics Association : JAMIA · 2018Article
- Humanin Prevents Age-Related Cognitive Decline in Mice and is Associated with Improved Cognitive Age in Humans.Scientific reports · 2018Article
- Article
- Current Scope and Challenges in Phenome-Wide Association Studies.Current epidemiology reports · 2017Article
- Phenome-Wide Association Studies as a Tool to Advance Precision Medicine.Annual review of genomics and human genetics · 2016Review
- Evidence for extensive pleiotropy among pharmacogenes.Pharmacogenomics · 2016Article
- Unravelling the human genome-phenome relationship using phenome-wide association studies.Nature reviews. Genetics · 2016Review
- Phenome-Wide Association Studies: Leveraging Comprehensive Phenotypic and Genotypic Data for Discovery.Current genetic medicine reports · 2015Article
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
Abstract
backgroundMitochondria play a critical role in the cell and have DNA independent of the nuclear genome. There is much evidence that mitochondrial DNA (mtDNA) variation plays a role in human health and disease, however, this area of investigation has lagged behind research into the role of nuclear genetic variation on complex traits and phenotypic outcomes. Phenome-wide association studies (PheWAS) investigate the association between a wide range of traits and genetic variation. To date, this approach has not been used to investigate the relationship between mtDNA variants and phenotypic variation. Herein, we describe the development of a PheWAS framework for mtDNA variants (mt-PheWAS). Using the Metabochip custom genotyping array, nuclear and mitochondrial DNA variants were genotyped in 11,519 African Americans from the Vanderbilt University biorepository, BioVU. We employed both polygenic modeling and association testing with mitochondrial single nucleotide polymorphisms (mtSNPs) to explore the relationship between mtDNA variants and a group of eight cardiovascular-related traits obtained from de-identified electronic medical records within BioVU.
resultsUsing polygenic modeling we found evidence for an effect of mtDNA variation on total cholesterol and type 2 diabetes (T2D). After performing comprehensive mitochondrial single SNP associations, we identified an increased number of single mtSNP associations with total cholesterol and T2D compared to the other phenotypes examined, which did not have more significantly associated SNPs than would be expected by chance. Among the mtSNPs significantly associated with T2D we identified variant mt16189, an association previously reported only in Asian and European-descent populations.
conclusionsOur replication of previous findings and identification of novel associations from this initial study suggest that our mt-PheWAS approach is robust for investigating the relationship between mitochondrial genetic variation and a range of phenotypes, providing a framework for future mt-PheWAS.
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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.