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Tomas Ekström's research group

Medical Epigenetics


A correct interpretation of the genome is necessary for a normal function of cells, organs and individuals. Epigenetics, which forms the epigenome, is the link between the genome and the environment. Each external stimulus affects the function and the ability of the gene regulatory machinery to interpret the epigenome through alterations in the physical chromatin structure.

Our researchThe research group has two main focuses:

Epigenetic mechanisms in cytomegalovirus infection
Cancer has long been considered as being solely a genetic disease which originates by muta-tions in one or several important genes. Recent knowledge has changed this simplified view. Alterations in the epigenome always appear early in cancer development. This fact has formed the basis for the hypothesis that epigenetic changes are important both for initiation, as well as growth of cancer. Cancer is, therefore, both a genetic and an epigenetic disease.

The research in the group revolves around epigenetic mechanisms in cancer initiation. We are particularly interested in how virus participates in altering the epigenome in a way which might lead to erroneous interpretation of the genome that increases the risk of cancer initiation.

Epigenetic analyses of mechanisms involved in gene/environment interactions leading to Rheumatoid arthritis and Multiple sclerosis
Chronic inflammatory diseases affect 1/3 of the population, leading to severe burden for soci-ety and individuals. The factors behind individual disease risks and therapy responses are of great interest. The cooperation between the genome and its epigenetic profile is definitely of great importance.

Rheumatoid arthritis (RA), a chronic inflammation created by autoimmune reactions, which leads to destruction of bone and cartilage in joints with severe debilitating consequences, affect approximately 25 individuals/100.000/year. Multiple sclerosis (MS), which also has an autoimmune origin affect 500 new patients yearly in Sweden.

We are studying the link between the genome and the outer environment, with epigenetic techniques, and couple epigenetic profiles to genetic background, life style, and disease risks. We try to find molecular causes why individuals with particular genetic makeup and certain environmental exposures (e.g. smoking) are affected by RA or MS, and why therapy respons-es differ between individuals. To achieve this, we use new technology and material from pa-tients with RA and MS.

The research is sponsored primarily by AFA Insurance.

Research Projects

  • Epigenetic mechanisms in cytomegalovirus infection
  • Epigenetic mechanisms of genetic inheritance and environment interactions in reumatoid arthritis and multiple sclerosis

Selected publications

DNA methylation as a mediator of HLA-DRB1*15:01 and a protective variant in multiple sclerosis.
Kular L, Liu Y, Ruhrmann S, Zheleznyakova G, Marabita F, Gomez-Cabrero D, et al
Nat Commun 2018 06;9(1):2397

DNA methylation mediates genotype and smoking interaction in the development of anti-citrullinated peptide antibody-positive rheumatoid arthritis.
Meng W, Zhu Z, Jiang X, Too C, Uebe S, Jagodic M, et al
Arthritis Res. Ther. 2017 03;19(1):71

Smoking induces DNA methylation changes in Multiple Sclerosis patients with exposure-response relationship.
Marabita F, Almgren M, Sjöholm L, Kular L, Liu Y, James T, et al
Sci Rep 2017 Nov;7(1):14589

High-specificity bioinformatics framework for epigenomic profiling of discordant twins reveals specific and shared markers for ACPA and ACPA-positive rheumatoid arthritis.
Gomez-Cabrero D, Almgren M, Sjöholm L, Hensvold A, Ringh M, Tryggvadottir R, et al
Genome Med 2016 11;8(1):124

Epigenome-wide association data implicate DNA methylation as an intermediary of genetic risk in rheumatoid arthritis.
Liu Y, Aryee M, Padyukov L, Fallin M, Hesselberg E, Runarsson A, et al
Nat. Biotechnol. 2013 Feb;31(2):142-7

Group members


Tomas Ekström Research team leader, Professor
Andrew Feinberg Associated
Philippe Melas Associated
Mikael Ringh PhD student, Graduate Student