GWAS and ExWAS of blood Mitochondrial DNA copy number identifies 71 loci and highlights a potential causal role in dementia.
Chong M, Mohammadi-Shemirani P, Perrot N et al.
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Abstract
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Mitochondrial DNA copy number (mtDNA-CN) is an accessible blood-based measurement believed to capture underlying mitochondrial (MT) function. The specific biological processes underpinning its regulation, and whether those processes are causative for disease, is an area of active investigation.
395,718 British, Irish, Other White, South Asian, African ancestry individuals
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