A library of human tissues enhances genetic research

A man and woman look at 3-D images of human tissues and organs on a computer screen.

An open-access library of thousands of genetic variations within 49 tissue types from 838 donors is now available at the Genotype-Tissue Expression (GTEx) project. GTEx started 10 years ago as an NIH-funded initiative to catalogue gene expression and regulation in tissues to enhance basic and translational research. The final results, referenced as version (v8) data, appear in Science, which published five studies and links to corresponding v8 research in Science Advances, Cell, Genome Biology, and Genome Medicine

The studies explore how genetic variants in human tissues influence common or rare traits. The research includes assessing telomere length, the end of chromosomes, in blood, which scientists study to understand aging and telomere biology disorders, such as pulmonary fibrosis.

The project also cites correlations. Coincidently, an expression of a gene in the tissue of the left ventricle of the heart correlates with height. Gene expressions in the liver impact carbohydrate metabolism and birth weight, which can influence breast cancer risk. Genetic variations in skeletal tissue of men correlate with cancer risk. Brandon Pierce, the lead author of the telomere study, refers to the tissue bank as a “treasure trove of data.” Future studies may explore sex-related differences in immune function, or lead to tissue-targeted therapies.

For example, University of California, San Diego researchers used GTEx with genetic studies and CRISPR, a gene-editing tool, to discover that transcription factor NKX2-5, part of genetic coding, influences
heart rhythm and helps explain irregularities. Researchers in China analyzed heart tissue data to assess cardiovascular disease risk factors for cancer patients considering chemotherapy. University of Chicago researchers illustrate how the tissue bank and research tools can support the development of new treatments, including drugs to inhibit a cholesterol pathway, while assessing safety, such as diabetes risk.