Adriana Koller, Michele Filosi, Hansi Weissensteiner, Federica Fazzini, Mathias Gorski, Cristian Pattaro, Sebastian Schönherr, Lukas Forer, Janina M Herold, Klaus J Stark, Patricia Döttelmayer, Andrew A Hicks, Peter P Pramstaller, Reinhard Würzner, Kai-Uwe Eckardt, Iris M Heid, Christian Fuchsberger, Claudia Lamina, Florian Kronenberg
Mitochondrial DNA copy number (mtDNA-CN) is a biomarker for mitochondrial dysfunction associated with several diseases. Previous genome-wide association studies (GWAS) have been performed to unravel underlying mechanisms of mtDNA-CN regulation. However, the identified gene regions explain only a small fraction of mtDNA-CN variability. Most of this data has been estimated from microarrays based on various pipelines. In the present study we aimed to (1) identify genetic loci for qPCR-measured mtDNA-CN from three studies (16,130 participants) using GWAS, (2) identify potential systematic differences between our qPCR derived mtDNA-CN measurements compared to the published microarray intensity-based estimates, and (3) disentangle the nuclear from mitochondrial regulation of the mtDNA-CN phenotype...
January 24, 2024: Scientific Reports