Network analysis of mitonuclear GWAS reveals functional networks and tissue expression profiles of disease-associated genes.

ABSTRACT: While mitochondria have been linked to many human diseases through genetic association and functional studies, the precise role of mitochondria in specific pathologies, such as cardiovascular, neurodegenerative, and metabolic diseases, is often unclear. Here, we take advantage of the catalog of human genome-wide associations, whole-genome tissue expression and expression quantitative trait loci datasets, and annotated mitochondrial proteome databases to examine the role of common genetic variation in mitonuclear genes in human disease. Through pathway-based analysis we identified distinct functional pathways and tissue expression profiles associated with each of the major human diseases. Among our most striking findings, we observe that mitonuclear genes associated with cancer are broadly

SUBMITTER: Johnson SC 

PROVIDER: S-EPMC5214989 | biostudies-literature | 2017 Jan

REPOSITORIES: biostudies-literature