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Genome-wide approaches to the etiology of eczema

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

Current Opinion in Allergy and Clinical Immunology: October 2010 - Volume 10 - Issue 5 - p 418–426
doi: 10.1097/ACI.0b013e32833dc75e
Genetics and epidemiology: Edited by Michael Kabesch

Purpose of review The present review summarizes the new discoveries in the genetics of eczema, focusing on the results from the recently published first genome-wide association study.

Recent findings The first genome-wide association study for eczema included 10 000 individuals and provided strong evidence for a new susceptibility locus for eczema in chromosome 11q13.5 (P = 7.6 × 10−10). Importantly, this finding has been confirmed by an independent research group. Homozygous carriers of the risk allele rs7927894[A] represent 11% of the population and their risk of developing eczema is 1.47 times higher than in no-carriers. This polymorphism also confers risk to Crohn's disease, suggesting the locus may be related to epithelial immunity or differentiation. This study also detected association with the epidermal differentiation complex in 1q21 and suggests that additional risk factors exist in this region apart from the well established mutations in the filaggrin gene.

Summary The first genome-wide association study for eczema has convincingly identified a new susceptibility locus for eczema. However, the exit from this study was limited, as only one new locus was identified. Complementary strategies aiming to distinguish the ‘true-association’ signals from the false positive results, together with larger sample sizes are required in order to achieve the full potential of this promising approach.

aPediatric Pneumology and Immunology, Charité Universitätsmedizin Berlin, Berlin

bMax-Delbrück-Centrum (MDC) for Molecular Medicine, Berlin-Buch, Germany

*Dr Jorge Esparza-Gordillo and Dr Ingo Marenholz contributed equally to the writing of this article.

Correspondence to Professor Dr Young-Ae Lee, Pediatric Pneumology and Immunology, Charite Campus Virchow Klinikum, Augustenburger Platz 1, D-13353 Berlin, Germany Tel: +49 30 9406 35 12; fax: +49 30 9406 31 47; e-mail:

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