New insights from genetic studies of eczema

Abstract: Genome-wide association studies (GWAS) provided fundamental insight into the genetic determinants of complex allergic diseases. For eczema, 58 susceptibility loci were reported. Protein-changing variants were associated with eczema at genome-wide significance at 12 loci. The majority of risk variants were, however, located in non-coding, regulatory regions of the genome. Prioritized target genes were enriched in pathways of the immune response and of epithelial barrier function. Interestingly, a large overlap in the genetic architecture underlying different allergic diseases was identified pointing to common pathomechanisms for eczema, asthma, hay fever, and food allergy. Here, we review the most recent findings from GWAS for eczema including the role of rare variants and genetic heterogeneity in ethnically diverse populations. In addition, we provide an overview of genes underlying Mendelian disorders featuring eczematous skin inflammation.

Object Details

• Location: Deutsche Nationalbibliothek Frankfurt am Main
• Extent: Online-Ressource
• Language: Englisch

References and Relationships

• Bibliographic citation: New insights from genetic studies of eczema ; volume:35 ; number:1 ; year:2023 ; pages:33-45 ; extent:13 ; Medizinische Genetik ; 35, Heft 1 (2023), 33-45 (gesamt 13)

Contributors, Places and Time

• Creator: Marenholz, Ingo ; Arnau-Soler, Aleix ; Rosillo-Salazar, Oscar Daniel ; Lee, Young-Ae

Further information

• DOI: 10.1515/medgen-2023-2010
• URN: urn:nbn:de:101:1-2023040514052396847145
• Rights: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
• Last update: 14.08.2025, 10:50 AM CEST