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A plethora of pleiotropy across complex traits

Nature Genetics volume 48, pages 707–708 (2016)Cite this article

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A new analysis has identified hundreds of loci that are associated with multiple traits or diseases by comparing genome-wide association study (GWAS) data for 42 complex traits. The study uses the power of GWAS to provide evidence of pairs of traits with a likely causal relationship.

Pleiotropy is a phenomenon in genetics whereby a DNA mutation or variant has an effect on multiple traits. If traits are influenced by many genes of small effect (polygenicity) and pleiotropy is directional, then pleiotropy can be detected by the estimation of genetic correlation using pedigree data from traditional family studies1 or high-density molecular marker data from recent GWAS2,3. The genetic correlation parameter quantifies the overall proportion of genetic loci shared between traits, but it does not tell us where in the genome shared loci reside nor the underlying mechanism of the relationship between the traits. On page 709 of this issue, Joseph Pickrell and colleagues4, including the commercial company 23andMe, performed an analysis of 42 traits and tested for genetic loci that were associated with multiple traits, using summary-level GWAS data from the public domain and 23andMe. They identified 341 pleiotropic loci, which are likely to be only the tip of the iceberg. A number of variants were associated with phenotypes that are biologically not obviously associated: for example, the ABO gene locus was associated with coronary artery disease and tonsillectomy.

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Figure 1: Inferring causal relationship between traits based on asymmetry in GWAS results.

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  1. Peter M. Visscher and Jian Yang are at the Queensland Brain Institute, The University of Queensland, Brisbane, Queensland, Australia.,

    Peter M Visscher & Jian Yang

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  1. Peter M Visscher
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  2. Jian Yang
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Correspondence to Peter M Visscher or Jian Yang.

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Visscher, P., Yang, J. A plethora of pleiotropy across complex traits. Nat Genet 48, 707–708 (2016). https://doi.org/10.1038/ng.3604

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