Capturing the geographic and genetic components controlling individual genetic regulation of cardio-metabolic quantitative traits. Y. Idaghdour1,2, JP. Goulet1,2, JC. Grenier1, E. Gbeha1, A. Hodgkinson1, V. Bruat1, T. de Malliard1,2, J. Hussin1,2, E. Hip-Ki1, P. Awadalla1,2 1) Pediatrics, Sainte-Justine Research Center, Montreal, QC, Canada; 2) CARTaGENE, Sainte-Justine Research Center, Montreal, QC, Canada.
Study of how environment and genome interact to shape gene expression variation is relevant to understanding the genetic architecture of complex phenotypes. To quantify the relative magnitudes of environmental and genetic effects on human transcriptome and determine how do gene expression profiles correlate with cardiometabolic phenotypes, we generated whole-genome genotypic data and whole-blood RNASeq gene expression profiles from 1000 deeply endophenotyped individuals with high and low cardiovascular disease risk scores. These individuals were sampled in three geographic locations from an aging cohort of 20,000 participants in Quebec, Canada. We documented strong effects of the environment on the transcriptome implicating modulation of core circulating cell functions. We detected transcriptional signatures that best correlate with cardiometabolic phenotypes and show how genotypic regulatory variation is a major determinant of these effects. Furthermore, we tested the hypothesis that gene expression traits associated with cardiometabolic phenotypes can be dependent on individual's regulatory genotypes and show examples of gene-environment interactions at the transcriptional level.
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