A statistical framework for cross-tissue transcriptome-wide association analysis

Nat Genet. 2019 Mar;51(3):568-576. doi: 10.1038/s41588-019-0345-7. Epub 2019 Feb 25.

Abstract

Transcriptome-wide association analysis is a powerful approach to studying the genetic architecture of complex traits. A key component of this approach is to build a model to impute gene expression levels from genotypes by using samples with matched genotypes and gene expression data in a given tissue. However, it is challenging to develop robust and accurate imputation models with a limited sample size for any single tissue. Here, we first introduce a multi-task learning method to jointly impute gene expression in 44 human tissues. Compared with single-tissue methods, our approach achieved an average of 39% improvement in imputation accuracy and generated effective imputation models for an average of 120% more genes. We describe a summary-statistic-based testing framework that combines multiple single-tissue associations into a powerful metric to quantify the overall gene-trait association. We applied our method, called UTMOST (unified test for molecular signatures), to multiple genome-wide-association results and demonstrate its advantages over single-tissue strategies.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Gene Expression / genetics
  • Gene Expression Profiling / methods
  • Genome-Wide Association Study / methods
  • Genotype
  • Humans
  • Models, Genetic
  • Polymorphism, Single Nucleotide / genetics
  • Transcriptome / genetics*