ArticleNature communications2026
A large-scale multi-ancestry mitochondrial variant association analysis for cardiometabolic traits.
Article in Nature communications, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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.
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Who cites it
1 citing paper in PubMed.
- A large-scale multi-ancestry mitochondrial variant association analysis for cardiometabolic traits.Nature communications · 2026Article
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Authors and funding
19 authors.
Funding
Abstract
Studies linking mitochondrial DNA (mtDNA) with complex traits are often limited by small sample sizes or focused on specific phenotypes in clinically selected cohorts. Here, we use data from >600,000 participants in the Million Veteran Program (MVP) to perform a multi-ancestry analysis of mitochondrial DNA (mtDNA) variation and cardiometabolic phenotypes across European (EUR), African (AFR), Admixed American (AMR), and East Asian (EAS) populations. After validating 248 mtDNA loci, we identify 10 ancestry-stratified single-variant associations (8 EUR, 2 AFR) and 23 additional signals in sex- and type 2 diabetes (T2D)-stratified analyses. Four variants tagging haplogroup J, D-loop MT228G > A, MT-ND3 MT10398A > G (p.Thr114Ala), MT-ND5 MT13708G > A (p.Ala458Thr), and MT-CYB MT14798T > C (p.Phe18Leu), are associated with hypothyroidism in EUR and replicated in UK Biobank (UKBB) with concordant effects. In EUR females, MT-RNR1 MT1555A > G increases the risk of carditis and heart failure phenotypes, supporting prior reports of maternally inherited cardiomyopathy. Gene-based rare-variant tests (minor allele frequency ≤2%) yield 26 associations (12 EUR, 10 AFR, 2 AMR, 2 EAS), including mitochondrial tRNA burdens linked to primary cardiomyopathy (females) and exophthalmos (males). Twenty-three of the 33 single-variant signals map to the endocrine/metabolic category, indicating significant enrichment (Fisher's exact P = 0.003). These results define ancestry- and context-specific contributions of mtDNA to cardiometabolic disease, with a notable concentration in endocrine traits, and provide a framework for mtDNA analysis across diverse biobank cohorts.
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