The detection and characterization of pleiotropy: discovery, progress, and promise

Brief Bioinform. 2016 Jan;17(1):13-22. doi: 10.1093/bib/bbv050. Epub 2015 Jul 28.


The impact of a single genetic locus on multiple phenotypes, or pleiotropy, is an important area of research. Biological systems are dynamic complex networks, and these networks exist within and between cells. In humans, the consideration of multiple phenotypes such as physiological traits, clinical outcomes and drug response, in the context of genetic variation, can provide ways of developing a more complete understanding of the complex relationships between genetic architecture and how biological systems function in health and disease. In this article, we describe recent studies exploring the relationships between genetic loci and more than one phenotype. We also cover methodological developments incorporating pleiotropy applied to model organisms as well as humans, and discuss how stepping beyond the analysis of a single phenotype leads to a deeper understanding of complex genetic architecture.

Keywords: PheWAS; complex traits; phenomics; pleiotropy.

Publication types

  • Review

MeSH terms

  • Animals
  • Caenorhabditis elegans / genetics
  • Computational Biology
  • Drosophila / genetics
  • Epistasis, Genetic
  • Genetic Pleiotropy*
  • Genome-Wide Association Study
  • Humans
  • Mice
  • Models, Genetic
  • Phenotype
  • Quantitative Trait Loci