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  1. Ethical Science News

  2. May 8, 2020

Analyzing the Regulatory Mechanisms of Gene Expression Across Human Tissue Types

Study in a Sentence: To systematically explore the molecular mechanisms of disease, researchers at University of Bristol evaluated the genetic regulation of gene expression and complex traits across 48 different human tissue types.

Healthy for Humans: This analysis yielded tissue-dependent associations between genetic variation, gene expression, and complex traits, including many disease-related traits. These associations can provide insight about functional variants implicated in genetic studies and may even help predict therapeutic safety and efficacy.

Redefining Research: Applying an approach called Mendelian randomization, researchers integrated the genomic dataset from the Genotype-Tissue Expression (GTEx) project, which contains transcription information for over 32,000 genes based on a range of 80 to 491 samples from 48 different human tissues, with the results from 395 genome-wide association studies. This integration constructed a genome-wide atlas of tissue-dependent regulatory mechanisms, providing increased understanding of the determinants of complex diseases.


Richardson, TG, Hemani, G, Gaunt, TR, et al. A transcriptome-wide Mendelian randomization study to uncover tissue-dependent regulatory mechanisms across the human phenome. Nature Communications. 2020;11:185.

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