University of Oulu

Sliz, E., Huilaja, L., Pasanen, A., Laisk, T., Reimann, E., Mägi, R., Hannula-Jouppi, K., Peltonen, S., Salmi, T., Koulu, L., Tasanen, K., & Kettunen, J. (2022). Uniting biobank resources reveals novel genetic pathways modulating susceptibility for atopic dermatitis. Journal of Allergy and Clinical Immunology, 149(3), 1105-1112.e9.

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

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Author: Sliz, Eeva1,2; Huilaja, Laura3,4; Pasanen, Anu3,4,5,6;
Organizations: 1Center for Life Course Health Research, Faculty of Medicine, Oulu, Finland
2Biocenter Oulu, University of Oulu, Oulu, Finland
3Department of Dermatology, PEDEGO Research Unit, Medical Research Center Oulu, Oulu, Finland
4University Hospital and University of Oulu, Oulu, Finland
5PEDEGO Research Unit and Medical Research Center Oulu, University of Oulu, Oulu, Finland
6Department of Children and Adolescents, Oulu University Hospital, Oulu, Finland
7Estonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia
8Department of Dermatology and Allergology, ERN-Skin Center, University of Helsinki, Helsinki, Finland
9Helsinki University Central Hospital, Helsinki, Finland
10Folkhälsan Research Center, Helsinki, Finland
11Research Programs Unit, Stem Cells and Metabolism Research Program, University of Helsinki, Helsinki, Finland
12Department of Dermatology and Venereology, University of Turku, Turku, Finland
13Department of Dermatology, Turku University Hospital, Turku, Finland
14Department of Dermatology and Venereology, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden
15Department of Dermatology and Venereology, Region Västra Götaland, Sahlgrenska University Hospital, Gothenburg, Sweden
16Celiac Disease Research Center, Faculty of Medicine and Health Technology, Tampere University, Tampere, Finland
17Department of Dermatology, Tampere University Hospital, Tampere, Finland
Format: article
Version: published version
Access: open
Online Access: PDF Full Text (PDF, 2.1 MB)
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Language: English
Published: Elsevier, 2022
Publish Date: 2022-03-28


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.

Objectives: 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.

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Series: Journal of allergy and clinical immunology
ISSN: 0091-6749
ISSN-E: 1085-8725
ISSN-L: 0091-6749
Volume: 149
Issue: 3
Pages: 1105 - 1112.e9
DOI: 10.1016/j.jaci.2021.07.043
Type of Publication: A1 Journal article – refereed
Field of Science: 3121 General medicine, internal medicine and other clinical medicine
Funding: The FinnGen project is funded by 2 grants from Business Finland (grant nos. HUS 4685/31/2016 and UH 4386/31/2016) and the following industry partners: AbbVie Inc, AstraZeneca UK Ltd, Biogen MA Inc, Celgene Corporation, Celgene International II Sàrl, Genentech Inc, Merck Sharp & Dohme Corp, Pfizer Inc, GlaxoSmithKline Intellectual Property Development Ltd, Sanofi US Services Inc, Maze Therapeutics Inc, Janssen Biotech Inc, and Novartis AG. This study was funded by the Sigrid Juselius Foundation (J.K.), the Academy of Finland (grant nos. 297338 and 307247 to J.K.), Novo Nordisk Foundation (grant no. NNF17OC0026062 to J.K.), the European Union through the European Regional Development Fund (project nos. 2014-2020.4.01.15-0012 and 2014-2020.4.01.16-0125), the European Union (through Horizon 2020 grant no. 810645), and the Estonian Research Council grants (grant nos. PRG687 and PRG1291).
Academy of Finland Grant Number: 297338
Detailed Information: 297338 (Academy of Finland Funding decision)
307247 (Academy of Finland Funding decision)
Copyright information: © 2021 The Authors. Published by Elsevier Inc. on behalf of the American Academy of Allergy, Asthma & Immunology. This is an open access article under the CC BY license (