GTEx: Project Background

National Human Genome Research Institute

National Institutes of Health
U.S. Department of Health and Human Services


The Genotype-Tissue Expression Project (GTEx)

Background

The Human Genome Project, completed in 2003, revealed the full "blueprint" for building human cells from our genes. Genes, the packets of information in the cells of our bodies that parents pass along to their children, come in different forms. They determine traits such as eye color, height, and blood type. Researchers have learned that every person has differences in the way some of our genes are written or spelled, referred to as "genetic variation." Many recent research studies, known as genome-wide association studies (GWAS), have explored these variations in large numbers of people and asked how they are associated with various diseases.

In addition to differences in the way genes are spelled, the activity of any given gene may be turned up or down to differing degrees, known as "gene expression patterns." Within each person, the spelling of each gene is the same in almost every organ. A kidney cell operates differently from a brain cell, however, because a different set of genes is active in the two types of cells. Studies of tissues that examine the level of gene activity, or gene expression patterns, are called "gene expression studies."

Gene expression studies can give useful insights into how different genes can affect disease. However, presently we know very little about how genetic variation and gene expression are linked, and how these changes contribute to disease. Expanding our understanding of how our genes affect our susceptibility to certain diseases will help researchers develop more effective prevention strategies and treatments. Ultimately, the Genotype-Tissue Expression (GTEx) Project aims to establish a resource with centralized data on genetic variation and gene expression in multiple human tissues for researchers to use in future biomedical studies.

To learn more about the science behind the GTEx project, we invite you to visit: http://commonfund.nih.gov/GTEx.

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Last Updated: August 12, 2012