The Common Fund's Genotype-Tissue Expression (GTEx) Program established a data resource and tissue bank to study the relationship between genetic variants (inherited changes in DNA sequence) and gene expression (how genes are turned on and off) in multiple human tissues and across individuals. GTEx is also examining how gene expression varies between male and female.
Previously, large genetic studies identified variants that are associated with human diseases. However, it is less clear how these variants affect gene expression and thereby contribute to human diseases. To provide insight into how genes are expressed differently across the body and how they are regulated, the Common Fund started the GTEx program in 2010. The GTEx portal that provides access to GTEx resources was launched in 2013. The GTEx data resource includes whole-genome sequence and RNA-sequence from ~960 deceased adult donors, with multiple tissue samples collected per donor (e.g. lung, brain, pancreas, skin, etc.). It also features an image library of the tissue samples, and a form to request tissue samples.
The GTEx data is widely used as a reference dataset to design new methods and tools, such as a statistical method called PrediXcan. This novel method is used to predict the expression of a gene using DNA sequence data. PrediXcan also predicts visible traits of diseases. GTEx researchers used this method to identify specific genes associated with five diseases: bipolar disorder, coronary artery disease, Crohn's disease, rheumatoid arthritis and type 1 diabetes. GTEx resources are valuable tools for exploring the genetic basis of complex human diseases.
Watch a video on the GTEx project for more details.
GTEx collected multiple human tissues (i.e. brain, heart, lung, breast, skin and whole blood etc.) from ~960 donors and over 30,000 samples.These tissues and samples are stored through the National Cancer Institute's Cancer Human Biobank initiative on behalf of GTEx. The GTEx database is available to researchers through the GTEx Portal. GTEx is helping researchers understand the inherited susceptibility to common diseases such as cancer, heart disease, Parkinson’s and diabetes.
GTEx also included a study to understand the ethical, legal and social issues (ELSI) related to donor recruitment and consent to tissue donation for biobanking purposes. In 2017, the GTEx ELSI researchers published a paper in Genetic Testing and Molecular Biomarkers. The findings indicated that a clear discussion about risks and benefits associated with participation in biobanking research is needed during the consent process.
The GTEx Program supported the following initiatives:
• Online data resource (GTEx Portal) for storing, cataloging, searching, and sharing aggregated level data
• Novel Statistical Methods for Human Gene Expression Quantitative Trait Loci (eQTL) Analysis
• Laboratory, Data Analysis, and Coordinating Center (LDACC) for acquiring and analyzing DNA and RNA from multiple human tissues
• Enhanced GTEx projects: including additional dimensions beyond gene expression to the GTEx data
This page last reviewed on June 11, 2021