Association of C>U RNA Editing with Human Disease Variants

RNA-editing is an important post-transcriptional RNA sequence modification performed by two catalytic enzymes, "ADAR"(A>I) and "APOBEC"(C>U). Although APOBEC-mediated C>U editing has been associated with a number of human cancers, the extent of C>U editing in human disease remains unclear. Here, we performed an association study and found that at least 1293 human disease variants occur at sites predicted by sequence motif analysis (RNASee protocol) to undergo APOBEC3A/G C>U editing. These variants were associated with a wide array of human disease conditions ranging from cancer, metabolic disorders, retinopathies, cardiomyopathies, neurodegenerative disorders and immunodeficiencies. These results indicate that APOBEC mediated C>U RNA editing may have widespread and previously unreported contributions to human disease conditions.