Gene expression and RNA splicing explain large proportions of the heritability for complex traits in cattle

CattleGTEx Consortium

Research output: Contribution to journalArticlepeer-review

Abstract / Description of output

Many quantitative trait loci (QTLs) are in non-coding regions. Therefore, QTLs are assumed to affect gene regulation. Gene expression and RNA splicing are primary steps of transcription, so DNA variants changing gene expression (eVariants) or RNA splicing (sVariants) are expected to significantly affect phenotypes. We quantify the contribution of eVariants and sVariants detected from 16 tissues (n = 4,725) to 37 traits of ∼120,000 cattle (average magnitude of genetic correlation between traits = 0.13). Analyzed in Bayesian mixture models, averaged across 37 traits, cis and trans eVariants and sVariants detected from 16 tissues jointly explain 69.2% (SE = 0.5%) of heritability, 44% more than expected from the same number of random variants. This 69.2% includes an average of 24% from trans e-/sVariants (14% more than expected). Averaged across 56 lipidomic traits, multi-tissue cis and trans e-/sVariants also explain 71.5% (SE = 0.3%) of heritability, demonstrating the essential role of proximal and distal regulatory variants in shaping mammalian phenotypes.

Original languageEnglish
Article number100385
Pages (from-to)1-20
Number of pages20
JournalCell Genomics
Volume3
Issue number10
Early online date23 Aug 2023
DOIs
Publication statusPublished - 11 Oct 2023

Keywords / Materials (for Non-textual outputs)

  • BayesR
  • BayesRC
  • RNA splicing
  • complex traits
  • eQTL
  • gene expression
  • heritability
  • sQTL

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