Humans differ in their genetic sequences at millions of positions but only a subset of these differences have a functional effect. In order to detect functional genetic differences, we assessed the impact of common genetic variants on gene expression in 869 individuals and discovered that the expression of many genes is affected by common variants in cis or in trans. We show that the effect of some variants on gene expression cannot be detected in other tissues, highlighting the tissue specificity of gene regulation. In addition, we show that variants associated to common diseases are more likely to affect gene expression in cis and in trans. Finally, we show that variants affecting gene expression in cis often affect gene expression in trans, which suggests that the trans effects are due to the cis genes expression. We tested this hypothesis and discovered several cases of genes regulated in trans by a cis regulated gene in a causal manner. This shows that a population-based strategy with a large number of individuals has the potential to detect secondary effects of common variants that can be used to construct short directed regulatory networks.
Vyšlo v časopise: Cis and Trans Effects of Human Genomic Variants on Gene Expression. PLoS Genet 10(7): e32767. doi:10.1371/journal.pgen.1004461 Kategorie: Research Article prolekare.web.journal.doi_sk: https://doi.org/10.1371/journal.pgen.1004461
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