Genetic effects on gene expression across human tissues
Name
nature24277.pdf
Description
Published version
Size
6.16 MB
Format
Adobe PDF
Checksum (MD5)
cb2a9c309efac2d754dc23ec3f064a0a
Author(s)
GTex Consortium
Date Issued
October 2017
Journal
Nature
Publisher
Springer Science and Business Media
Citation
Aguet, François et al. "Genetic effects on gene expression across human tissues." Nature 550, 7675 (October 2017): 204–213 © 2017 Macmillan Publishers Limited, part of Springer Nature
Version
Final published version
Abstract
Characterization of the molecular function of the human genome and its variation across individuals is essential for identifying the cellular mechanisms that underlie human genetic traits and diseases. The Genotype-Tissue Expression (GTEx) project aims to characterize variation in gene expression levels across individuals and diverse tissues of the human body, many of which are not easily accessible. Here we describe genetic effects on gene expression levels across 44 human tissues. We find that local genetic variation affects gene expression levels for the majority of genes, and we further identify inter-chromosomal genetic effects for 93 genes and 112 loci. On the basis of the identified genetic effects, we characterize patterns of tissue specificity, compare local and distal effects, and evaluate the functional properties of the genetic effects. We also demonstrate that multi-tissue, multi-individual data can be used to identify genes and pathways affected by human disease-associated variation, enabling a mechanistic interpretation of gene regulation and the genetic basis of disease.
MIT Department
Massachusetts Institute of Technology. Computer Science and Artificial Intelligence Laboratory
Terms of Use
Creative Commons Attribution 4.0 International license
Persistent DSpace Link
DOI of Published Version
https://doi.org/10.1038/nature24277
