Transcriptome-wide association analysis of brain structures yields insights into pleiotropy with complex neuropsychiatric traits

Nat Commun. 2021 May 17;12(1):2878. doi: 10.1038/s41467-021-23130-y.

Abstract

Structural variations of the human brain are heritable and highly polygenic traits, with hundreds of associated genes identified in recent genome-wide association studies (GWAS). Transcriptome-wide association studies (TWAS) can both prioritize these GWAS findings and also identify additional gene-trait associations. Here we perform cross-tissue TWAS analysis of 211 structural neuroimaging and discover 278 associated genes exceeding Bonferroni significance threshold of 1.04 × 10-8. The TWAS-significant genes for brain structures have been linked to a wide range of complex traits in different domains. Through TWAS gene-based polygenic risk scores (PRS) prediction, we find that TWAS PRS gains substantial power in association analysis compared to conventional variant-based GWAS PRS, and up to 6.97% of phenotypic variance (p-value = 7.56 × 10-31) can be explained in independent testing data sets. In conclusion, our study illustrates that TWAS can be a powerful supplement to traditional GWAS in imaging genetics studies for gene discovery-validation, genetic co-architecture analysis, and polygenic risk prediction.

Publication types

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

MeSH terms

  • Brain / diagnostic imaging
  • Brain / metabolism*
  • Gene Expression Profiling / methods*
  • Genetic Association Studies / methods
  • Genetic Pleiotropy / genetics*
  • Genetic Predisposition to Disease / genetics
  • Genome-Wide Association Study / methods*
  • Humans
  • Multifactorial Inheritance / genetics*
  • Neuroimaging / methods
  • Phenotype
  • Polymorphism, Single Nucleotide
  • Quantitative Trait Loci / genetics