Genetic effects on gene expression across human tissues
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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.
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The record
- Venue
- Nature
- Topic
- Genetic Associations and Epidemiology
- Field
- Biochemistry, Genetics and Molecular Biology
- Canadian institutions
- McGill UniversityMcGill Genome Centre
- Funders
- Common FundNational Institute of Diabetes and Digestive and Kidney DiseasesNational Cancer InstituteNIH Office of the DirectorNational Institute of Mental HealthNational Heart, Lung, and Blood InstituteNational Institute of Neurological Disorders and StrokeNational Institute of General Medical SciencesNational Institute for Health and Care ResearchU.S. National Library of MedicineLeidosNational Institute on AgingSearle Scholars ProgramCenter for Computational, Evolutionary and Human Genomics, Stanford UniversityBroad InstituteNational Human Genome Research InstituteWellcome TrustNational Institute on Drug AbuseUniversity of MiamiNational Institutes of HealthNational Science Foundation
- Keywords
- Gene expressionGeneBiologyGeneticsExpression (computer science)Computational biologyEvolutionary biologyComputer science
- Has abstract in OpenAlex
- yes