Genetic effects on gene expression across human tissues

GTEx Consortium, Alexis J. Battle (Lead / Corresponding author), Christopher D Brown (Lead / Corresponding author), Barbara E. Engelhardt (Lead / Corresponding author), Stephen B. Montgomery (Lead / Corresponding author)

Research output: Contribution to journalArticlepeer-review

2198 Citations (Scopus)
139 Downloads (Pure)


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.

Original languageEnglish
Pages (from-to)204-213
Number of pages10
Issue number7675
Publication statusPublished - 12 Oct 2017


  • Alleles
  • Chromosomes, Human/genetics
  • Disease/genetics
  • Female
  • Gene Expression Profiling
  • Gene Expression Regulation/genetics
  • Genetic Variation
  • Genome, Human/genetics
  • Genotype
  • Humans
  • Male
  • Organ Specificity/genetics
  • Quantitative Trait Loci/genetics

ASJC Scopus subject areas

  • General


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