Article
GWAS and ExWAS of blood mitochondrial DNA copy number identifies 71 loci and highlights a potential causal role in dementia.
eLife - 13 Jan 2022
Chong Michael, Mohammadi-Shemirani Pedrum, Perrot Nicolas, Nelson Walter, Morton Robert, Narula Sukrit, Lali Ricky, Khan Irfan, Khan Mohammad, Judge Conor, Machipisa Tafadzwa, Cawte Nathan, O'Donnell Martin, Pigeyre Marie, Akhabir Loubna, Paré Guillaume
Abstract excerpt
Background: 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. Methods: We developed a novel method for array-based mtDNA-CN estimation suitable for biobank-scale studies,...
Topics
- Adult
- Aged
- Biomarkers
- DNA Copy Number Variations
- DNA, Mitochondrial
- Dementia
- Female
- Gene Dosage
- Genome-Wide Association Study
- Humans