Vertical Pleiotropy¶
Definition
AI-generated
Vertical pleiotropy describes settings where a variant affects one trait that lies on the causal path to another (e.g. a biomarker intermediate between a gene product and disease), so effects on multiple phenotypes are chained through a mediating mechanism.
Topics
Why it matters in GWAS¶
It contrasts with independent effects on multiple traits and is often discussed alongside Mendelian randomization: vertical structure can be consistent with a causal model, whereas unmodeled horizontal pathways complicate MR.
Example usage¶
"We argued the LDL–CAD association reflected vertical pleiotropy through a well-defined lipid pathway rather than independent effects on both traits."
Related terms¶
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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