NIH completes atlas of human DNA differences that influence gene expression

Researchers have completed a detailed atlas documenting the stretches of human DNA that influence gene expression – a key way in which a person’s genome gives rise to an observable trait, like hair color or disease risk. This atlas is a critical resource for the scientific community interested in how individual genomic variation leads to biological differences, like healthy and diseased states, across human tissues and cell types.

Sections of the genome, known as expression Quantitative Trait Loci (eQTL) work to control how genes are turned off and on. Image credit: Darryl Leja/NHGRI

The atlas is the culmination of work from the Genotype-Tissue Expression (GTEx) Consortium, established to catalog how genomic variation influences how genes are turned off and on.

There was previously no resource at the scale used by GTEx that enabled researchers to study how gene expression in the liver might be different than in the lung or heart, for example, and how those differences relate to the inherited genomic variation in an individual.

Researchers involved in the GTEx Consortium collected data from more than 53 different tissue types (including brain, liver and lung) from autopsy, organ donations and tissue transplant programs. These tissues came from a approximately 960 donors in total.

The project continues to house a biobank of collected tissue samples, as well as extracted DNA and RNA for future studies by independent researchers.

The summary-level data are available to the public through the GTEx Portal, and the most recent release of the raw data has been submitted to the Database of Genotypes and Phenotypes (dbGaP), an archive of results from studies that investigate the genomic contributions to phenotypes (physical characteristics or disease states). (National Institutes of Health)

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