Journal
NATURE
Volume 550, Issue 7675, Pages 204-+Publisher
NATURE PORTFOLIO
DOI: 10.1038/nature24277
Keywords
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Categories
Funding
- Common Fund of the Office of the Director of the National Institutes of Health
- National Cancer Institute (NCI)
- National Human Genome Research Institute (NHGRI)
- National Heart, Lung, and Blood Institute (NHLBI)
- National Institute on Drug Abuse (NIDA)
- National Institute of Mental Health (NIMH)
- National Institute of Neurological Disorders and Stroke (NINDS)
- Leidos Biomedical, Inc. (Leidos) [10XS170, 10XS171]
- Leidos subcontract [10ST1035]
- University of Miami [DA006227]
- Lucille P. Markey Biomedical Research Stanford Graduate Fellowship
- Stanford Genome Training Program (SGTP) [NIH/NHGRI T32HG000044]
- National Science Foundation (NSF) GRFP [DGE-114747]
- Stanford Center for Computational, Evolutionary, and Human Genomics (CEHG)
- la Caixa-Severo Ochoa pre-doctoral fellowship
- NIH [U54DK105566, R01GM104371, T32GM007057, R01MH109905, R01HG008150, R01MH101814, R01MH101822, R00HG006265, U01 HG007900, R01MH101819, R01HG009125, R21HG007840, R01MH106842, UM1HG008901, HHSN2682010000029C, 2T32HG003284-11, R01MH101782, R01MH101810, R01MH101820, R01MH090937A]
- Hewlett-Packard Stanford Graduate Fellowship
- Natural Science and Engineering Council of Canada
- National Science Foundation Graduate Research Fellowship [DGE-1656518]
- Searle Scholars Program
- NHGRI [U01HG007436, U01HG009080]
- Sloan Faculty Fellowship
- [HHSN268201000029C]
- National Institute for Health Research [NF-SI-0611-10099] Funding Source: researchfish
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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.
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