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Response eQTL

Definition
AI-generated

A response eQTL is a genetic association with gene expression that appears or changes strength when cells are stimulated or perturbed (e.g. cytokine treatment, pathogen exposure), reflecting context-dependent regulation not evident in resting baseline profiles.

Why it matters in GWAS

Immune and dynamic traits may be driven by variants that alter inducible expression; integrating stimulation with single-cell profiling can reveal mechanisms missed by steady-state bulk eQTL resources.

Example usage

"The variant was a response eQTL for IL2RA only after interferon stimulation in peripheral blood mononuclear cells."

References

  • Cuomo ASE, Nathan A, Raychaudhuri S, et al. (2023). Single-cell genomics meets human genetics. Nat Rev Genet. https://doi.org/10.1038/s41576-023-00599-5
  • Randolph HE, et al. (2021). Genetic ancestry effects on the response to viral infection are pervasive but cell type specific. Science.

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