Nature News | Editorial
The Genotype-Tissue Expression project
A more personal gene expression catalogue
We meet a new frontier in biomedical research with publications from the Genotype-Tissue Expression (GTEx) Consortium, that of cataloguing genetic variation and its influence on gene expression within and between all major tissues in the human body. The GTEx project was proposed in 2008 with the lofty goals of establishing a resource database and associated tissue biobank to study the relationship between genetic variation and gene expression in all major human tissues across 1000 individuals. This nearly decade long effort now brings the largest multi-tissue research study using postmortem donors, which entailed overcoming many challenges including developing protocols to obtain high quality biospecimens as well as establishing a framework for the ethical, legal and social issues surrounding postmortem donation.
In this second phase of the project, GTEx profiles genetic variation, gene expression, histological and clinical data for 449 human donors across 44 tissues. The authors use the GTEx data to analyze the influence of genetic variation on gene expression within and between tissues and individuals. These studies have helped to crack the regulatory code of our genome, demonstrating that the expression of nearly all genes are regulated by genetic variation, most of which is located close to the affected gene.