Case-control and cohort studies in the age of genome-wide associations
Environmental modifiers of the effects of genetic variants, or gene-environment interactions, have received increased attention in recent years due to the recognition that genetic variants alone are unlikely to explain most of the recent increases in chronic diseases. Such increases are more likely due to environmental and behavioral changes interacting with a genetic predisposition, suggesting that failing to identify and control environmental modifiers of disease risk could mask important associations with genetic variants or misestimate the magnitude of their effects. Identifying environmental modifiers of these variants may also be essential in mitigating the risk conferred by these variants. Population-based genetic association studies with detailed characterization of environmental exposures are critical and underused resources for identifying potential interacting factors. This chapter explores the substantial and complementary strengths offered by the two main approaches to these studies — case-control and cohort designs — in the search for the genetic and environmental influences on common diseases.
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