Refereed journal article or data article (A1)

Uniting biobank resources reveals novel genetic pathways modulating susceptibility for atopic dermatitis

List of Authors: Sliz Eeva, Huilaja Laura, Pasanen Anu, Laisk Triin, Reimann Ene, Mägi Reedik; FinnGen; Estonian Biobank Research Team, Hannula-Jouppi Katariina, Peltonen Sirkku, Salmi Teea, Koulu Leena, Tasanen Kaisa, Kettunen Johannes

Publisher: Elsevier Inc.

Publication year: 2021

Journal: Journal of Allergy and Clinical Immunology

Journal name in source: The Journal of allergy and clinical immunology

Journal acronym: J Allergy Clin Immunol

ISSN: 0091-6749

eISSN: 1085-8725


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Background: Atopic dermatitis (AD) is a common chronic inflammatory skin disease with high heritability. Previous genome-wide association studies have identified several loci predisposing to AD. These findings explain approximately 30% of the variance in AD susceptibility, suggesting that further work is required to fully understand the genetic underpinnings.

Objective: We sought to gain additional understanding of the genetic contribution to AD risk by using biobank resources.

Methods: We completed a genome-wide meta-analysis of AD in 796,661 individuals (Ncases = 22,474) from the FinnGen study, the Estonian Biobank, and the UK Biobank. We further performed downstream in silico analyses to characterize the risk variants at the novel loci.

Results: We report 30 loci associating with AD (P < 5 × 10-8), 5 of which are novel. In 2 of the novel loci, we identified missense mutations with deleterious predictions in desmocollin 1 and serpin family B member 7, genes encoding proteins crucial to epidermal strength and integrity.

Conclusions: These findings elucidate novel genetic pathways involved in AD pathophysiology. The likely involvement of desmocollin 1 and serpin family B member 7 in AD pathogenesis may offer opportunities for the development of novel treatment strategies for AD in the future.

Keywords: Atopic dermatitis; DSC1; FinnGen; SERPINB7; genome-wide association.

Copyright © 2021 The Authors. Published by Elsevier Inc. All rights reserved.

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Last updated on 2022-07-04 at 16:20