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Identifying Atopic Dermatitis Risk Loci in 1,094,060 Individuals with Subanalysis of Disease Severity and Onset

Anu Pasanen, Eeva Sliz, Laura Huilaja, Ene Reimann, Reedik Mägi, Triin Laisk, Kaisa Tasanen, Johannes Kettunen

2024Journal of Investigative Dermatology17 citationsDOIOpen Access PDF

Abstract

Atopic dermatitis (AD) is a common inflammatory skin disease highly attributable to genetic factors. In this study, we report results from a genome-wide meta-analysis of AD in 37,541 cases and 1,056,519 controls with data from the FinnGen project, the Estonian Biobank, the UK Biobank, the EAGLE Consortium, and the BioBank Japan. We detected 77 independent AD-associated loci, of which 10 were, to our knowledge, previously unreported. The associated loci showed enrichment in various immune regulatory processes. We further performed subgroup analyses of mild and severe AD and of early- and late-onset AD, with data from the FinnGen project. Fifty-five of the 79 tested variants in the associated loci showed larger effect estimates for severe than for mild AD as determined through administered treatment. The age of onset, as determined by the first hospital visit with AD diagnosis, was lower in patients with particular AD-risk alleles. Our findings add to the knowledge of the genetic background of AD and may underlie the development of new therapeutic strategies.

Topics & Concepts

Atopic dermatitisDiseaseMedicineDermatologyInternal medicineDermatology and Skin DiseasesFood Allergy and Anaphylaxis ResearchAsthma and respiratory diseases