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Gene Variation Increases Risk of Atopic Dermatitis

Posted: April 30, 2009

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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 9,600 study participants, the scientists decided to scrutinize the genomes of 3,011 individuals more closely. These included children and adults with atopic dermatitis, healthy controls and 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 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% of the population are carriers. Now the MDC and Charité scientists want to decipher the exact function of EMSY in atopic dermatitis.