THE DETECTION OF TRANS ACTING INFLUENCES UPON HUMAN GENE EXPRESSION

Abstract

The current research on detecting trans-eQTLs is challenging due to their small effect size and multiple testing problem. Identifying groups of co-varying genes seems to be a better alternative to study the functional outcomes of trans-acting influences. But unknown batch effects can also contribute to co-variations of these genes. In this study, we aimed to investigate the cumulative trans-acting influences upon human gene expression. We first identified groups of potential trans-regulated genes from three RNA-seq datasets of human LCLs using PCA and correlation analysis. Then we provided 7 lines of evidence to support the biological origin of co-variations of these genes. We found multiple enriched functional pathways in these trans-regulated genes, such as spliceosome and Alzheimer?s disease, suggesting that diverse phenotypic consequences could be observed in human individuals with co-variations of trans-regulated genes. Moreover, protein-protein interactions may have an important role in the phenotypic outcomes of trans influences.