Epigenome-wide association studies: current knowledge, strategies and recommendations

Area of Science:

• Complex disease etiology
• Epigenetics and environmental interactions

Background:

• Genetic and environmental factors incompletely explain complex disease variability.
• The epigenome serves as a crucial interface for gene-environment interactions.
• Epigenetic mechanisms, particularly DNA methylation, are increasingly implicated in disease pathophysiology.

Purpose of the Study:

• Review current literature on epigenome-wide association studies (EWASes).
• Provide recommendations and strategies for conducting successful EWASes.
• Address novel EWAS analysis areas including longitudinal designs and statistical deconvolution.

Main Methods:

• Focus on EWASes utilizing DNA methylation data.
• Review studies employing microarray-based data due to cost-effectiveness.
• Prioritize blood-based studies for non-invasiveness and data accessibility.

Main Results:

• Growing body of evidence supports epigenetics in complex disease.
• Decreasing costs and accessible pipelines fuel rise in EWAS publications.
• Identified key areas for advanced EWAS analysis.

Conclusions:

• EWASes are powerful tools for understanding complex diseases.
• Methodological advancements enhance the scope and accuracy of EWAS.
• Future research should incorporate advanced analytical techniques for deeper insights.