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Gene-by-environment interactions in urban populations modulate risk phenotypes
Marie-Julie Favé1,2, Fabien C Lamaze1, David Soave1
1Ontario Institute for Cancer Research, Toronto, ON, M5G 0A3, Canada.
Nature Communications
|March 8, 2018
Summary
The environment significantly impacts human health and gene expression, often more than genetics. This study reveals how air pollution affects cardio-metabolic and respiratory health, with genetic variations influencing individual responses.
Area of Science:
- Genomics
- Environmental Health
- Preventive Medicine
Background:
- Understanding gene-environment (G×E) interactions is crucial in modern genomics and preventive medicine.
- While theoretical models exist, empirical data on human G×E interactions remain limited.
Purpose of the Study:
- To comprehensively assess G×E interactions using an integrative approach.
- To investigate the impact of environmental exposures on gene expression and clinical endophenotypes in a human population.
Main Methods:
- Utilized an integrative approach analyzing 1.6 million data points from ~1000 individuals.
- Incorporated data on environmental exposures, health outcomes, gene expression, and whole-genome genetic variation.
- Controlled for genetic ancestry to isolate environmental effects.
Main Results:
- The environment demonstrated a substantial impact on the transcriptome and clinical endophenotypes, surpassing genetic ancestry's influence.
- Air pollution was found to affect gene expression and pathways linked to cardio-metabolic and respiratory traits.
- Identified four expression quantitative trait loci (eQTLs) that interact with environmental factors like air pollution.
Conclusions:
- Local environmental factors directly influence disease risk phenotypes.
- Genetic variations, including less common variants, can modulate an individual's susceptibility and response to environmental challenges.
- Highlights the importance of environmental exposures in human health and disease etiology.
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