Article
The genetic and phenotypic correlates of mtDNA copy number in a multi-ancestry cohort.
HGG advances - 13 Jul 2023
Zaidi Arslan A, Verma Anurag, Morse Colleen, Ritchie Marylyn D, Mathieson Iain
Abstract excerpt
Mitochondrial DNA copy number (mtCN) is often treated as a proxy for mitochondrial (dys-) function and disease risk. Pathological changes in mtCN are common symptoms of rare mitochondrial disorders, but reported associations between mtCN and common diseases vary across studies. To understand the biology of mtCN, we carried out genome- and phenome-wide association studies of mtCN in 30,666 individuals from the...
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