Genetic correlations of polygenic disease traits: from theory to practice

Nat Rev Genet. 2019 Oct;20(10):567-581. doi: 10.1038/s41576-019-0137-z.


The genetic correlation describes the genetic relationship between two traits and can contribute to a better understanding of the shared biological pathways and/or the causality relationships between them. The rarity of large family cohorts with recorded instances of two traits, particularly disease traits, has made it difficult to estimate genetic correlations using traditional epidemiological approaches. However, advances in genomic methodologies, such as genome-wide association studies, and widespread sharing of data now allow genetic correlations to be estimated for virtually any trait pair. Here, we review the definition, estimation, interpretation and uses of genetic correlations, with a focus on applications to human disease.

Publication types

  • Review
  • Comment

MeSH terms

  • Disease*
  • Genome-Wide Association Study*
  • Humans
  • Models, Genetic
  • Multifactorial Inheritance
  • Phenotype