Interplay between mitochondrial and nuclear DNA in gene expression regulation.
By using linear mixed models (LMMs) to conduct expression quantitative trait locus (eQTL) mapping, we explored the crosstalk between mitochondria and the cell nucleus across 48 different tissues. Through the integration of our identified eQTLs with various molecular data, we applied a series of analyses, including statistical colocalization, causal inference, graph neural networks, and over-representation analysis. These methods helped us identify disease genes, variants, and ontological pathways. Our study shows potential for unveiling new therapeutic approaches aimed at a wide range of diseases, from metabolic disorders to neurodegenerative conditions.Mito-Nuclear Interactions, Mediation, colocalization, Mendelian Randomization, Graph Neural Networks, Interpretable Machine Learning