Investigating the Genetic Basis of Mitochondrial Dysfunction
A GWAS Study on mtDNA Copy Number
Mitochondrial DNA copy number (mtDNA-CN) serves as a crucial biomarker in diseases linked to mitochondrial dysfunction. In our newest GWAS on mitochondrial DNA copy number with 16,130 participants, we identified significant genetic loci at HBS1L and GSDMA genes associated with qPCR-measured mtDNA-CN.
This is currently the largest GWAS on mtDNA-CN measured by a highly standardized qPCR, involving a cohort of 16,130 participants across three studies: GCKD, AuGUR and our CHRIS study.
Full article here: https://www.nature.com/articles/s41598-024-52373-0
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