Epigenome-wide association studies (EWAS): past, present, and future

Area of Science:

• Epidemiology
• Genetics
• Molecular Biology

Background:

• Epigenome-wide association studies (EWAS) emerge from genetic epidemiology to investigate disease risk at the molecular level.
• Unlike genetic risk, epigenetic risk factors may be reversible or modifiable, offering therapeutic potential.
• The field has evolved from early 27k Illumina methylation beadarrays to current 450k arrays and future next-generation sequencing methods.

Purpose of the Study:

• To review the historical development of epigenome-wide association studies (EWAS).
• To examine the progression of EWAS methodologies from early beadarrays to current sequencing techniques.
• To highlight the significance of identified associations between epigenetic factors and various diseases, exposures, and lifestyle factors.

Main Methods:

• Review of historical EWAS methodologies, including Illumina 27k and 450k methylation beadarrays.
• Discussion of the transition towards next-generation sequencing-based methods for EWAS.
• Emphasis on the need for large-scale, international consortium-based approaches.

Main Results:

• Numerous diseases, exposures, and lifestyle factors have been investigated using EWAS.
• Several significant associations between epigenetic markers and health outcomes have been identified.
• The field is rapidly advancing with improved technologies and increasing study scope.

Conclusions:

• EWAS are a crucial tool in understanding the molecular basis of disease risk.
• The potential for modifiable epigenetic risk factors presents promising avenues for intervention.
• Large international collaborations are essential for achieving the statistical power and rigor needed for conclusive EWAS findings.