Mitochondrial genome copy number measured by DNA sequencing in human blood is strongly associated with metabolic traits via cell-type composition differences
Ganel L, Chen L, Christ R, Vangipurapu J, Young E, Das I, Kanchi K, Larson D, Regier A, Abel H, Kang CJ, Scott A, Havulinna A, Chiang CWK, Service S, Freimer N, Palotie A, Ripatti S, Kuusisto J, Boehnke M, Laakso M, Locke A, Stitziel NO, Hall IM. Mitochondrial genome copy number measured by DNA sequencing in human blood is strongly associated with metabolic traits via cell-type composition differences. Human Genomics 2021, 15: 34. PMID: 34099068, PMCID: PMC8185936, DOI: 10.1186/s40246-021-00335-2.Peer-Reviewed Original ResearchConceptsCell type compositionGenome copy numberBlood-derived DNAMitochondrial genome copy numberCombination of genomesCopy numberBulk DNA sequencingDNA sequencingPolygenic risk scoresNumber of mitochondriaExome sequencing dataRelated traitsSequencing dataMetabolic traitsTraitsCommon variantsLociRare variantsSequencingDNAFinnish individualsMendelian randomization frameworkUK BiobankMetS traitsGenome