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Pleiotropy

Definition
AI-generated

Pleiotropy is the phenomenon whereby one genetic variant, gene, or locus affects more than one trait or disease.

Topics

Why it matters in GWAS

Many GWAS loci associate with multiple phenotypes; distinguishing shared biology from statistical artifacts (LD, colliders) and modeling cross-trait structure improves interpretation and follow-up.

Example usage

"The lead SNP showed strong pleiotropy across metabolic traits, motivating a multi-trait GWAS and genetic correlation analysis."

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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