Disease-associated loci share properties with response eQTLs under common environmental exposures.
Response eQTLs identified under environmental exposures share key properties with disease-associated loci, highlighting their role in context-dependent gene regulation.
- Why it matters: Understanding how genetic variants influence disease risk requires examining gene regulation beyond steady-state tissues, especially under environmental influences that may reveal hidden effects.
- What they did: The study profiled 1.4 million cells from 51 human iPSC lines exposed to nicotine, caffeine, or ethanol, identifying hundreds of response eQTLs and their dynamic regulatory effects during differentiation.
- The result: Findings show response eQTLs are enriched in distal enhancers, regulate constrained genes, and overlap with disease loci, emphasizing the importance of gene-by-environment studies for interpreting disease genetics.