Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

New Risk Variant for Atopic Dermatitis Identified

07.04.2009
Scientists in Germany have identified a gene variant on chromosome 11 that is associated with an increased risk of atopic dermatitis.

In a large genome-wide association study the researchers scanned the genomes of more than 9600 participants from Germany, Poland and the Czech Republic.

"Our findings cast new light on the pathogenesis of the disease," said Professor Young-Ae Lee (Charité / MDC). The pediatrician-researcher and her collaborators hope the study will lead to a new approach to targeted therapy for this chronic skin disorder. (Nature Genetics doi: 10.1038/ng.347)*.

More and more people suffer from atopic dermatitis, which is also known as atopic or infantile eczema. Atopic dermatitis is a chronic (long-lasting) inflammatory skin disease that typically affects the large flexures such as the bend of the elbows or the back of the knees. Patients suffer from recurrent flares of intense itching, dryness and redness of the skin, with weeping of clear fluid in the acute stage, and skin thickening (lichenification) in the chronic stage. Along with hay fever and asthma, atopic dermatitis is one of the most common allergic disorders. In the industrialized countries about 15 percent of young children are affected.

Atopic dermatitis is typically the first clinical manifestation of allergic disease. In most cases atopic dermatitis appears within the first few years of life. For the majority of affected children this marks the beginning of an "allergic career", which in later years evolves into hay fever or asthma. Just what triggers the outbreak of atopic dermatitis is not yet fully understood. However, epidemiological studies indicate that the genetic contribution is substantial.

For that reason, of the total of 9600 study participants, the scientists decided to scrutinize the genomes of 3011 individuals more closely. These included children and adults with atopic dermatitis, healthy controls, as well as entire families in which at least two children have atopic dermatitis. The researchers scanned the entire genome, searching for genetic variants that are especially common in atopic dermatitis patients.

The study demonstrates that several genes are involved in the pathogenesis of atopic dermatitis. Most importantly, the researchers identified a variant on chromosome 11 that is particularly common in the patients with atopic dermatitis. This variant is located in a region containing the gene C11orf30 which encodes the protein EMSY. The scientists suspect that a mutation in this gene is associated with atopic dermatitis. However, the exact role of EMSY in atopic dermatitis still needs to be investigated.

Same variant also a risk factor for Crohn's disease
The same variant on chromosome 11 is also common in patients with Crohn's disease, a chronic inflammatory disease of the gastrointestinal tract. Scientists therefore suspect that this variant on chromosome 11 will unravel a novel common disease mechanism that can lead to chronic inflammation of various organs. The variant is very widespread: in Europe, 36 percent of the population are carriers. Now the MDC and Charité scientists want to decipher the exact function of EMSY in atopic dermatitis.

Furthermore, the scientists show that other previously unknown variants in genes related to the outermost skin layer (epidermis) increase the risk for the disease. The researchers hope that their findings will contribute to improved treatment for atopic dermatitis sufferers. "To develop a targeted intervention," they explained, "we must first fully understand the underlying disease mechanism."

A common variant on chromosome 11q13 is associated with atopic dermatitis

Jorge Esparza-Gordillo1,2,16, Stephan Weidinger3,4,16, Regina Fölster-Holst5, Anja Bauerfeind2, Franz Ruschendorf2, Giannino Patone2, Klaus Rohde2, Ingo Marenholz1,2, Florian Schulz1,2, Tamara Kerscher1,2, Norbert Hubner2, Ulrich Wahn1, Stefan Schreiber6,7, Andre Franke6, Rainer Vogler7, Simon Heath8, Hansjörg Baurecht4,9, Natalija Novak10, Elke Rodriguez3,4, Thomas Illig11, Min-Ae Lee-Kirsch12, Andrzej Ciechanowicz13, Michael Kurek14, Tereza Piskackova15, Milan Macek15, Young-Ae Lee1,2, Andreas Ruether6

1 Pediatric Pneumology and Immunology, Charité University Medical School Berlin, Berlin, Germany
2 Max Delbrück Center (MDC) for Molecular Medicine, Berlin-Buch, Germany
3 Department of Dermatology and Allergy, Technische Universität München, Munich, Germany
4 Division of Environmental Dermatology and Allergy, Helmholtz Zentrum München and ZAUM Center for Allergy and Environment, Technische Universität München, Munich, Germany
5 Clinic for Dermatology, Venerology and Allergology, University Hospital Schleswig-Holstein, Kiel, Germany
6 Institute for Clinical Molecular Biology, Christian Albrecht University, Kiel, Germany
7 POPGEN Biobank Project, Christian Albrecht University, Kiel, Germany
8 Centre National de Génotypage, Evry, France
9 Institute for Medical Statistics and Epidemiology IMSE, Technische Universität München, Munich, Germany
10 Department of Dermatology and Allergy, University of Bonn, Bonn, Germany
11 Department of Epidemiology, Helmholtz Zentrum München - German Research Center for Environmental Health, Neuherberg, Germany
12 University Children's Hospital, Technical University Dresden, Dresden, Germany
13 Dept. of Laboratory Diagnostics and Molecular Medicine, Pomeranian Medical University, Szczecin, Poland
14 Department of Clinical Allergology, Pomeranian, Pomeranian Medical University, Szczecin, Poland
15 Department of Biology and Medical Genetics, Charles University Prague - 2nd Medical School and Faculty, Hospital Motol, Prague, Czech Republic
16 These authors contributed equally to this work
Corresponding author: Prof. Dr. Young-Ae Lee, Pediatric Pneumology and Immunology, Charite Campus Virchow Klinikum, Augustenburger Platz 1, D-13353 Berlin, Germany
Barbara Bachtler
Press and Public Affairs
Max Delbrück Center for Molecular Medicine (MDC) Berlin-Buch
Robert-Rössle-Straße 10
13125 Berlin, Germany
Phone: +49 (0) 30 94 06 - 38 96
Fax: +49 (0) 30 94 06 - 38 33
e-mail: presse@mdc-berlin.de
http://www.mdc-berlin.de/

Barbara Bachtler | Max-Delbrück-Centrum
Further information:
http://www.mdc-berlin.de/

More articles from Life Sciences:

nachricht At last, butterflies get a bigger, better evolutionary tree
16.02.2018 | Florida Museum of Natural History

nachricht New treatment strategies for chronic kidney disease from the animal kingdom
16.02.2018 | Veterinärmedizinische Universität Wien

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: Demonstration of a single molecule piezoelectric effect

Breakthrough provides a new concept of the design of molecular motors, sensors and electricity generators at nanoscale

Researchers from the Institute of Organic Chemistry and Biochemistry of the CAS (IOCB Prague), Institute of Physics of the CAS (IP CAS) and Palacký University...

Im Focus: Hybrid optics bring color imaging using ultrathin metalenses into focus

For photographers and scientists, lenses are lifesavers. They reflect and refract light, making possible the imaging systems that drive discovery through the microscope and preserve history through cameras.

But today's glass-based lenses are bulky and resist miniaturization. Next-generation technologies, such as ultrathin cameras or tiny microscopes, require...

Im Focus: Stem cell divisions in the adult brain seen for the first time

Scientists from the University of Zurich have succeeded for the first time in tracking individual stem cells and their neuronal progeny over months within the intact adult brain. This study sheds light on how new neurons are produced throughout life.

The generation of new nerve cells was once thought to taper off at the end of embryonic development. However, recent research has shown that the adult brain...

Im Focus: Interference as a new method for cooling quantum devices

Theoretical physicists propose to use negative interference to control heat flow in quantum devices. Study published in Physical Review Letters

Quantum computer parts are sensitive and need to be cooled to very low temperatures. Their tiny size makes them particularly susceptible to a temperature...

Im Focus: Autonomous 3D scanner supports individual manufacturing processes

Let’s say the armrest is broken in your vintage car. As things stand, you would need a lot of luck and persistence to find the right spare part. But in the world of Industrie 4.0 and production with batch sizes of one, you can simply scan the armrest and print it out. This is made possible by the first ever 3D scanner capable of working autonomously and in real time. The autonomous scanning system will be on display at the Hannover Messe Preview on February 6 and at the Hannover Messe proper from April 23 to 27, 2018 (Hall 6, Booth A30).

Part of the charm of vintage cars is that they stopped making them long ago, so it is special when you do see one out on the roads. If something breaks or...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

VideoLinks
Industry & Economy
Event News

2nd International Conference on High Temperature Shape Memory Alloys (HTSMAs)

15.02.2018 | Event News

Aachen DC Grid Summit 2018

13.02.2018 | Event News

How Global Climate Policy Can Learn from the Energy Transition

12.02.2018 | Event News

 
Latest News

Fingerprints of quantum entanglement

16.02.2018 | Information Technology

'Living bandages': NUST MISIS scientists develop biocompatible anti-burn nanofibers

16.02.2018 | Health and Medicine

Hubble sees Neptune's mysterious shrinking storm

16.02.2018 | Physics and Astronomy

VideoLinks
Science & Research
Overview of more VideoLinks >>>