Largest worldwide study on eczema

Scientists from the Helmholtz Zentrum München and the Cluster of Excellence “Inflammation at Interfaces” in Kiel in collaboration with researchers and clinicians from 14 different countries have succeeded in identifying ten genomic regions in which common gene variants increase the risk of eczema (atopic dermatitis). The findings of this largest ever genetic study on eczema, in which more than 50,000 patients and 300,000 healthy individuals were examined, are now published on the website of Nature Genetics.

Dr. Marie Standl and Prof. Dr. Stephan Weidinger, Sources: HMGU and T. Böschen / Cluster of Excellence Inflammation at Interfaces

Eczema, or atopic dermatitis, is a chronic inflammatory skin disease which is characterized by intense itching and recurrent eczematous lesions. It affects up to 20% of children and 10% of adults worldwide, and dramatically impacts the quality of life and psychosocial well-being of patients and their families. Although the precise causes are still insufficiently understood, it is well established that an inherited susceptibility is of utmost importance.

To get insights into the genetic risk factors of the disease, a research team composed of clinicians and scientists from 14 different countries studied the entire genome of more than 50,000 patients and 300,000 healthy individuals. The study was led by Professor Stephan Weidinger, Cluster of Excellence “Inflammation at Interfaces” (Department of Dermatology, Kiel University and Universitätsklinikum Schleswig-Holstein, Kiel Campus), Dr. Marie Standl from the Helmholtz Zentrum München (German Research Center for Environmental Health, Munich) and Dr. Lavinia Paternoster (University of Bristol, UK), within the framework of the “EAGLE” Consortium (EArly Genetics and Lifecourse Epidemiology).

The researchers were able to identify ten new genetic regions in which variations influence the risk for eczema. They also observed differences between ethnic groups. “Through the cooperation with colleagues from Europe, America, Asia and Australia we had access to an extremely high amount of data from diverse populations” says Standl, “and the results are highly robust.”

“Inherited susceptibility for inflammatory diseases“

The majority of the genes identified play a role for the balance of the immune system and its response to environmental exposures, and also affect the risk for other inflammatory diseases. Study leader Weidinger: “Our results suggest that many people have an inherited susceptibility for inflammatory diseases in general. In these people, other inherited or environmental exposures are then responsible for this susceptibility to be expressed in the skin.”

Understanding gene function to improve diagnostics and therapy

A special challenge will now be to understand in detail the molecular mechanisms through which the identified genes increase the risk for inflammatory diseases and more specifically for eczema. In addition, their interaction with lifestyle and environmental factors has yet to be clarified. “Only then will we be able to develop tests which facilitate the prediction of disease risk and the development of improved strategies for prevention and treatment, or to apply existing treatments in a more targeted fashion”, says study leader Weidinger.

Further information

Background

Eczema is one of the most common chronic diseases worldwide. In developed countries, up to two out of ten children and one out of ten adults are affected by this extremely itchy and debilitating skin disease. The disease has an enormous impact on quality of life, and in addition increases the risk for other inflammatory diseases such as asthma, rhinitis or inflammatory bowel disease. According to the most recent analysis of the world health organisation, eczema is classified as the leading health burden attributable to skin diseases. The underlying mechanisms of eczema are not yet sufficiently understood, but eczema is assumed to be based on a strongly genetic background. The main pathomechanisms are a weakened and deficient skin barrier and inappropriate immune responses to environmental stimuli. These characteristics are mainly inherited.

Original Publication:

Standl, M. et al. (2015). Multi-ancestry genome-wide association study of 21,000 cases and 95,000 controls identifies new risk loci for atopic dermatitis, Nature Genetics, DOI: 10.1038/ng.3424

As German Research Center for Environmental Health, Helmholtz Zentrum München pursues the goal of developing personalized medical approaches for the prevention and therapy of major common diseases such as diabetes mellitus and lung diseases. To achieve this, it investigates the interaction of genetics, environmental factors and lifestyle. The Helmholtz Zentrum München has about 2,300 staff members and is headquartered in Neuherberg in the north of Munich. Helmholtz Zentrum München is a member of the Helmholtz Association, a community of 18 scientific-technical and medical-biological research centers with a total of about 37,000 staff members.



The Institute of Epidemiology I (EPI I) conducts research into the significance of environmental and lifestyle factors, genetic constitution and metabolism in the genesis and progression of respiratory, metabolic and allergic diseases, as well as of selected types of cancer. Research is based on data and biological samples obtained from the population-based cohort studies GINI, LISA and MONICA/KORA. The Institute plays a leading role in the planning and setting up of the national cohorts.



The Cluster of Excellence "Inflammation at Interfaces" has been promoted since 2007 by the Excellence Initiative of the Federation and the German States with a total budget of 68 million euros; currently, it is in its second phase. The 300 cluster members at four locations in Kiel (Kiel University, University Medical Center Schleswig-Holstein), Lübeck (Universität zu Lübeck, UKSH), Plön (Max-Planck-Institute for Evolutionary Biology) and Borstel (Research Center Borstel - Leibniz-Center for Medicine and Biosciences) conduct research in an innovative, systemic approach to the phenomenon of inflammation, which can invade all barrier organs such as intestines, lungs and skin.

Scientific contact at Helmholtz Zentrum München:

Dr. Marie Standl, Helmholtz Zentrum München - German Research Center for Environmental Health (GmbH), Institute of Epidemiology I, Ingolstädter Landstr. 1, 85764 Neuherberg – Phone: +49 89 3187 2952 - E-mail

Scientific contact at Cluster of Excellence “Inflammation at Interfaces”:

Prof. Dr. Stephan Weidinger, Cluster of Excellence “Inflammation at Interfaces“ and Department of Dermatology - Phone: +49 +431 597-2732 - E-mail