To interrogate mtDNA-CN as a potential
determinant of human diseases, we performed extensive genetic investigations in up to 395,781 participants from the UKBiobank study.
We first developed and validated a novel method for biobank-scale mtDNA-CN investigations that leverages SNP array intensities, called “AutoMitoC”.
Various analyses were then conducted to build on previous publications regarding the specific genes and pathways underlying mtDNA-CN regulation. Finally, we applied Mendelian randomization analyses to assess potential causal relationships between mtDNA-CN and disease susceptibility.