The largest scale study so far on asthma genetics sheds light on disease mechanisms

Asthma and allergic diseases are associated with a number of biological reactions. One of these reactions is an elevated blood count of eosinophils, multifunctional leukocytes that release highly active proteins primarily to combat parasites. In the largest study so far on asthma genetics, an international consortium of scientists used this immune reaction as an easily measurable marker to elucidate the underlying disease mechanisms. The study has been published online, ahead of print, in the journal Nature Genetics [*February 8, 2009*].

In the study, the Icelandic company Decode Genetics together with Helmholtz Zentrum München and a number of other international research institutes performed a genome-wide association scan of more than 50,000 test persons. The researchers found several sequence variants associated with asthma.

“Two of the detected sequence variants are of significance for a biochemical pathway in the interleukin-1 cluster,” explained Dr. Matthias Wjst, who was one of the initiators of the study at the Institute of Inhalation Biology of Helmholtz Zentrum München. This finding confirms the results of a research group at Helmholtz Zentrum München from 2004, which showed that the IL-1 gene cluster is associated with asthma.

“We do not yet know what mechanisms underlie the effect of these sequence variants on the inflammatory cells,” Dr. Wjst said, “but these findings give us new starting points for a better understanding of the various hypotheses of allergic inflammation.”

Allergic and respiratory diseases are among the key research areas of Helmholtz Zentrum München, which is dedicated to disease research at the interface of genetics, lifestyle and environmental influences. The center’s research goal is to elucidate biological mechanisms to achieve a better understanding of the disease process and thus to develop therapies and prevention strategies. Neuherberg, January 8, 2009D. Gudbjartson et al.: Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction. DOI 10.1038/ng.323

Publication

D. Gudbjartson et al.: Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction. DOI 10.1038/ng.323

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