Epigenome-wide association studies for common human diseases

Area of Science:

• Genomics
• Epigenetics
• Disease Etiology

Background:

• Genome-wide association studies (GWASs) identify genetic loci for common diseases but leave much causality unexplained.
• Advances in genomic technologies enable large-scale studies of human disease-associated epigenetic variation, particularly DNA methylation.

Purpose of the Study:

• To discuss the opportunities and challenges of epigenome-wide association studies (EWASs).
• To provide guidance on EWAS design, implementation, and integration with GWASs for functional analysis.

Main Methods:

• Discussion of EWAS design considerations, including cohort and sample selection.
• Exploration of statistical significance, power, and confounding factors in EWASs.
• Examination of follow-up study strategies and integration with GWASs.

Main Results:

• EWASs present unique challenges compared to GWASs.
• Integration of EWASs and GWASs can facilitate the functional dissection of complex GWAS haplotypes.
• EWASs offer a complementary approach to GWASs for understanding disease causality.

Conclusions:

• EWASs are a powerful tool for investigating the role of DNA methylation in common diseases.
• Careful design and analysis are crucial for the success of EWASs.
• Combining EWASs and GWASs enhances the ability to interpret genetic findings and understand disease mechanisms.