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A major susceptibility locus for atopic dermatitis maps to chromosome 3q21

Nature Genetics volume 26, pages 470–473 (2000)Cite this article

Abstract

Atopic dermatitis (eczema) is a chronic inflammatory skin disease with onset mainly in early childhood1. It is commonly the initial clinical manifestation of allergic disease, often preceding the onset of respiratory allergies2,3. Along with asthma and allergic rhinitis, atopic dermatitis is an important manifestation of atopy that is characterized by the formation of allergy antibodies (IgE) to environmental allergens. In the developed countries, the prevalence of atopic dermatitis is approximately 15%, with a steady increase over the past decades4,5. Genetic and environmental factors interact to determine disease susceptibility and expression6, and twin studies indicate that the genetic contribution is substantial7. To identify susceptibility loci for atopic dermatitis, we ascertained 199 families with at least two affected siblings based on established diagnostic criteria8,9. A genome-wide linkage study revealed highly significant evidence for linkage on chromosome 3q21 (Zall=4.31, P= 8.42×10−6). Moreover, this locus provided significant evidence for linkage of allergic sensitization under the assumption of paternal imprinting (hlod=3.71, α=44%), further supporting the presence of an atopy gene in this region. Our findings indicate that distinct genetic factors contribute to susceptibility to atopic dermatitis and that the study of this disease opens new avenues to dissect the genetics of atopy.

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Figure 1: Genome-wide scan for atopic dermatitis susceptibility loci.
Figure 2: Linkage analysis on chromosome 3q.

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Acknowledgements

We thank the families for participation; R. Nickel for help in initiating this project; M. Schwarz for technical assistance; T. Jakob and R. Mayrl for help with family recruitment; and G. Nürnberg for preparing the figures. This work was supported by Bundesministerium für Forschung und Technologie and the German Human Genome Project.

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Author notes

  1. André Reis

    Present address: Department of Human Genetics, Friedrich-Alexander-University, Erlangen, Germany

Authors and Affiliations

  1. Gene Mapping Centre, Max-Delbrück-Centre (MDC) for Molecular Medicine, Berlin, Germany

    Young-Ae Lee, Franz Rüschendorf & André Reis

  2. Department of Paediatric Pneumology and Immunology, Humboldt-University, Berlin, Germany

    Young-Ae Lee, Ulrich Wahn & Rainer Kehrt

  3. Department of Paediatrics, University La Sapienza, Rome, Italy

    Luigi Tarani & Luisa Businco

  4. Department of Paediatrics, Örebro Medical Center Hospital, Örebro, Sweden

    Dan Gustafsson & Florence Andersson

  5. Department of Dermatology and Venereology, University Hospital, Rotterdam, The Netherlands

    Arnold P. Oranje & Albert Wolkertstorfer

  6. Department of Paediatrics, Marienhospital, Wesel, Germany

    Andrea v. Berg

  7. Kinderklinik Schwabing, Technical University, Munich, Germany

    Ute Hoffmann

  8. TOMESA-Fachklinik, Bad Salzschlirf, Germany

    Wolfgang Küster

  9. Institute of Medical Biometry, Informatics and Epidemiology, University of Bonn, Germany

    Thomas Wienker & Franz Rüschendorf

  10. Department of Human Genetics, Humboldt-University, Berlin, Germany

    André Reis

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Correspondence to Young-Ae Lee or André Reis.

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Lee, YA., Wahn, U., Kehrt, R. et al. A major susceptibility locus for atopic dermatitis maps to chromosome 3q21. Nat Genet 26, 470–473 (2000). https://doi.org/10.1038/82625

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