Special Issue "Complex Disease Epigenetics"

A special issue of Epigenomes (ISSN 2075-4655).

Deadline for manuscript submissions: 30 June 2019

Special Issue Editors

Guest Editor
Dr. Miina Ollikainen

Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland
Website | E-Mail
Interests: epigenetics, genetics, complex traits, twin study, early development, obesity, smoking, alcohol use
Guest Editor
Dr. Riikka Lund

Turku Centre for Biotechnology, University of Turku and Åbo Akademi University, Turku, Finland
Website | E-Mail
Interests: Epigenomics; genomics; transcriptomics; pluripotent stem cells; biomedicine; development; aging; molecular mechanisms of diseases; next-generation sequencing; genome-wide methods

Special Issue Information

Dear Colleagues,

Complex diseases and traits have a genetic background, yet the final phenotypic outcome largely depends on an individual’s environment and lifestyle. Epigenetic modifications link these environmental factors to ontogenesis and disease development by dynamically altering gene expression.

In recent years, an increasing number of epigenome-wide association studies (EWAS) have been conducted, identifying thousands of associations between DNA methylation and diseases or traits. However, understanding the direction of these associations remains challenging. Mendelian randomization has become a powerful tool to infer causality in epigenetic modifications associated with disease outcomes. Furthermore, family and twin studies have shown that variation in epigenetic patterns is partly heritable, with disease-discordant monozygotic twins proving to be particularly informative. Despite the growing evidence of the impact of environmental exposures on epigenetic changes and subsequent disease development, we are far from fully understanding the underlying molecular mechanisms of complex disease onset and progression.

This Special Issue will focus on assembling our current knowledge of epigenetic changes in complex human diseases and traits. We will consider review, research or methods manuscripts of exceptional interest on the following topics:

  • Robust epigenetic associations and inferring causality
  • Epigenetic disease markers, risk predictors, and intervention targets
  • Interactions between the genome and epigenome
  • Novel study designs applied to epigenetic data
  • Methodological developments in epigenetics research

Dr. Miina Ollikainen
Dr. Riikka Lund
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All papers will be peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Epigenomes is an international peer-reviewed open access quarterly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) is waived for well-prepared manuscripts submitted to this issue. Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.


  • Epigenetics
  • Epigenomics
  • Epigenome-wide association study
  • DNA methylation
  • Causality
  • Complex disease
  • Histone modifications
  • Noncoding RNAs

Published Papers

This special issue is now open for submission.
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