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Shared genetic determinants between eczema and other immune-related diseases

Marenholz, Ingo; Esparza-Gordillo, Jorge; Lee, Young-Ae

Current Opinion in Allergy and Clinical Immunology: October 2013 - Volume 13 - Issue 5 - p 478–486
doi: 10.1097/ACI.0b013e328364e8f7
GENETICS AND EPIDEMIOLOGY: Edited by Catherine Laprise and Emmanuelle Bouzigon

Purpose of review Eczema and other allergic disorders are complex diseases caused by multiple genetic and environmental factors. Here, we review recent success in the identification of novel susceptibility loci for eczema.

Recent findings Genome-wide association studies led to marked progress in unraveling the genetic determinants of allergic disorders. In the past 4 years, a total of 14 new eczema susceptibility loci have been identified and nearly all of them were successfully replicated. Seven additional eczema loci were recently identified by alternative strategies utilizing the remarkable overlap in the genetic cause of diverse immune-related traits. Apart from underlining the importance of the skin barrier in eczema, these studies point to specific immunological functions altered in eczema pathogenesis.

Summary The new findings demonstrate that common pathways are involved in the development of eczema and other immune-related traits. Moreover, the genetic determinants shared between eczema, asthma, and allergic rhinitis should aid in resolving the molecular mechanisms triggering disease progression along the atopic march. The identification of the underlying genes and causal variants will be the major challenge for upcoming studies.

Pediatric Allergology, Experimental and Clinical Research Center, Charité University Medicine and Max-Delbrück Center for Molecular Medicine, Berlin, Germany

*These authors contributed equally to this work.

Correspondence to Professor Dr Young-Ae Lee, Pediatric Allergology, Experimental and Clinical Research Center, Charité Campus Buch, Lindenberger Weg 80, D-13125 Berlin, Germany. Tel: +49 30 9406 35 12; fax: +49 30 9406 31 47; e-mail: yo.lee@charite.de

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