Epigenome-Environment Interactions and Their Therapy

  • Carsten Carlberg
  • Ferdinand Molnár


Despite the huge number of more than 88 million variations of our genome, as revealed by the 1000 Genomes Project, for most common multigenic diseases only some 20% of the genetic risk can be explained. A part of the missing heritability might be resolved by future identification of rare SNPs, but the major contributions to this phenomenon will be environmental factors and lifestyle choices modulating the epigenome. For the same reason, human populations that made in only few generations a transition from famine to food surplus are under higher risk for developing metabolic diseases than those that improved nutritional conditions over many generations. “Integrative personal omics profiling” (iPOP) represents the most comprehensive assessment of individuals and serves as a master example for the detection of genome-environment interactions. Most epigenetic modifications are reversible, which implies significant therapeutic potential for inhibitors of chromatin modifiers. These compounds are used in the therapy of immune diseases and in particular in the immunotherapy of cancer.


Genetics Environment GWAS Missing heritability Integrative personal omics profiling Chromatin modifier inhibitors Cancer immunotherapy 

Further Reading

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  4. Li-Pook-Than J, Snyder M (2013) iPOP goes the world: integrated personalized omics profiling and the road toward improved health care. Chem Biol 20:660–666CrossRefGoogle Scholar
  5. Tough DF, Tak PP, Tarakhovsky A, Prinjha RK (2016) Epigenetic drug discovery: breaking through the immune barrier. Nat Rev. Drug Discov 15:835–853CrossRefGoogle Scholar

Copyright information

© Springer Nature Switzerland AG 2019

Authors and Affiliations

  • Carsten Carlberg
    • 1
  • Ferdinand Molnár
    • 2
  1. 1.Institute of BiomedicineUniversity of Eastern FinlandKuopioFinland
  2. 2.Department of BiologyNazarbayev UniversityNur-SultanKazakhstan

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