Genetic correlations of polygenic disease traits: from theory to practice

Wouter van Rheenen, Wouter J. Peyrot, Andrew J. Schork, S. Hong Lee, Naomi R. Wray

Research output: Contribution to journalReview articleAcademicpeer-review

172 Citations (Scopus)


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.
Original languageEnglish
Pages (from-to)567-581
Number of pages15
JournalNature Reviews Genetics
Issue number10
Publication statusPublished - 1 Oct 2019

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