CRG: Gene expression is key to understanding differences between individuals and disease susceptibility

CRG: Gene expression is key to understanding differences between individuals and disease susceptibility

News from CRG

The Genotype-Tissue Expression (GTEx) project consortia, which includes scientists from the Centre for Genomic Regulation (CRG) in Barcelona, have now published their results from their first pilot study in three Science papers. These finding will contribute to a better understanding of genomic variation and give us new clues about disease susceptibility.

Although the genetic blueprint of every cell is the same, each cell has the potential to become specific for a tissue or organ by controlling its gene expression. Thus, every cell “reads” or “switches on” a particular set of genes according to whether it should become a skin, heart, or liver cell. Launched by the National Institutes of Health (NIH) in 2010, the GTEx Project aims to create a reference database and tissue bank for scientists to study how genomic variants affect gene activity and disease susceptibility.

Following their two-year pilot study, GTEx scientists—including scientists from the CRG—have now published their initial results in three articles in the May 8 issue of Science. These breakthrough studies provide new insight into how genomic variants control the how, when, and how many aspects of genes being turned on and off in different tissues, and how this can predispose people to diseases such as cancer, heart disease, and diabetes.

One of these articles investigates the variation of gene expression between individuals and, in particular, between organs and tissues. This research was led by Dr. Roderic Guigó (coordinator of the Bioinformatics and Genomics Programme at the CRG and Professor at the UPF) and involved scientists from the Broad Institute (Harvard University and MIT, Cambridge, Massachusetts) “We realized that gene activity differed much more across organs or tissues than across individuals. Variation between individuals accounted only for about 5% of the total variation in gene activity,” said Dr. Guigó.

More information:
CRG news

The GTEX Consortium. “The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans”. Science 8 May 2015 348(6235): 648-659 doi:

Melé M et al. “The human transcriptome across tissues and individuals”, Science 8 May 2015 348(6235): 660-665 doi:

Rivas MA et al. “Effect of predicted protein-truncating genetic variants on the human transcriptome” Science 8 May 215 348(6235): 665.