Article
Genome-wide analysis of mitochondrial DNA copy number reveals loci implicated in nucleotide metabolism, platelet activation, and megakaryocyte proliferation.
Human genetics - 1 Jan 2022
Longchamps R J, Yang S Y, Castellani C A, Shi W, Lane J, Grove M L, Bartz T M, Sarnowski C, Liu C, Burrows K, Guyatt A L, Gaunt T R, Kacprowski T, Yang J, De Jager P L, Yu L, Bergman A, Xia R, Fornage M, Feitosa M F, Wojczynski M K, Kraja A T, Province M A, Amin N, Rivadeneira F, Tiemeier H, Uitterlinden A G, Broer L, Van Meurs J B J, Van Duijn C M, Raffield L M, Lange L, Rich S S, Lemaitre R N, Goodarzi M O, Sitlani C M, Mak A C Y, Bennett D A, Rodriguez S, Murabito J M, Lunetta K L, Sotoodehnia N, Atzmon G, Ye K, Barzilai N, Brody J A, Psaty B M, Taylor K D, Rotter J I, Boerwinkle E, Pankratz N, Arking D E
Abstract excerpt
Mitochondrial DNA copy number (mtDNA-CN) measured from blood specimens is a minimally invasive marker of mitochondrial function that exhibits both inter-individual and intercellular variation. To identify genes involved in regulating mitochondrial function, we performed a genome-wide association study (GWAS) in 465,809 White individuals from the Cohorts for Heart and Aging Research in Genomic Epidemiology...
Topics
- Aged
- Cell Proliferation
- DNA Copy Number Variations
- DNA, Mitochondrial
- Female
- Genetic Predisposition to Disease