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Horizontal Pleiotropy

Definition
AI-generated

In biology and complex-trait genetics, horizontal pleiotropy means a variant or gene affects multiple traits through distinct pathways rather than through a simple causal chain (contrast vertical pleiotropy).

Topics

Why it matters in GWAS

This usage explains why one association signal can tag biology relevant to several phenotypes and motivates multi-trait methods; it is distinct from the Mendelian randomization sense of “horizontal pleiotropy,” which concerns instrument validity.

Example usage

"The locus was cited as an example of horizontal pleiotropy in the biology sense, with independent effects on height and hair color."

References

  • Jee J, et al. (2026). The pleiotropic landscape of the human genome. Nat Rev Genet. https://doi.org/10.1038/s41576-025-00908-0
  • Solovieff N, et al. (2013). Pleiotropy in complex traits: challenges and strategies. Nat Rev Genet.

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