Table 2

Outline of current knowledge gaps

Current fundamental research questionContextPotential line of enquiry
What part of the genome should be the focus for analysis of DNA methylation levels?CpG islandsPromoter regions
1st exon
Transcription factor binding sites
CpG shores
Non-coding DNA
How do exposures during gestation affect epigenetic markings?EnvironmentLongitudinal samples, lifestyle information, measures of epigenetic markings
Diet/lifestyle
How does the epigenome change over time?EnvironmentLongitudinal samples, clinical and lifestyle information needed to assess influences
Diet/lifestyle
Epigenetic drift
Cause and effect
To what degree does DNA methylation change over the lifecourse?Subtle changesMore evidence of the link between DNA methylation and phenotype
BiomarkerPersistence
DNA methylation as a predictor of disease progression
DNA methylation as a predictor of response to treatment or drug efficacy
What is the extent of trans-generational transmission of acquired epigenetic patterns?Number of generationsAnimal models
Offspring–parent triads with quantitative, allele specific methylation measures
What are the potential therapeutic options available after epigenetic changes have occurred?EnvironmentLongitudinal samples, clinical and lifestyle information needed to assess influences
Diet/lifestyle
How can epigenetics be integrated with other ‘omics’ technologies?TranscriptomicsCorrelation with expression
GenomicsRelationship with SNPs
Network analysis
Bayesian and other statistical approaches
  • SNPs, single nucleotide polymorphisms.