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Mitochondrial DNA deletions are associated with non-B DNA conformations

Posted on April 18, 2021 by Jordan

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”.

Leveraging AutoMitoC-based mtDNA-CN estimates, we performed large-scale GWAS and ExWAS to identify common and rare genetic variants contributing to population-level variation in mtDNA-CN.

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.

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