Vertaisarvioitu alkuperäisartikkeli tai data-artikkeli tieteellisessä aikakauslehdessä (A1)

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




Julkaisun tekijätSliz 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

KustantajaElsevier Inc.

Julkaisuvuosi2022

JournalJournal of Allergy and Clinical Immunology

Tietokannassa oleva lehden nimiThe Journal of allergy and clinical immunology

Lehden akronyymiJ Allergy Clin Immunol

Volyymi149

Julkaisunumero3

Aloitussivu1105

Lopetussivun numero1112

ISSN0091-6749

eISSN1085-8725

DOIhttp://dx.doi.org/10.1016/j.jaci.2021.07.043

Rinnakkaistallenteen osoitehttps://research.utu.fi/converis/portal/detail/Publication/67752966


Tiivistelmä


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 2023-29-06 at 12:10