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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."xsd:string
http://purl.uniprot.org/citations/34454985http://purl.org/dc/terms/identifier"doi:10.1016/j.jaci.2021.07.043"xsd:string
http://purl.uniprot.org/citations/34454985http://purl.uniprot.org/core/author"Tasanen K."xsd:string
http://purl.uniprot.org/citations/34454985http://purl.uniprot.org/core/author"Magi R."xsd:string
http://purl.uniprot.org/citations/34454985http://purl.uniprot.org/core/author"Hannula-Jouppi K."xsd:string
http://purl.uniprot.org/citations/34454985http://purl.uniprot.org/core/author"Pasanen A."xsd:string
http://purl.uniprot.org/citations/34454985http://purl.uniprot.org/core/author"Reimann E."xsd:string
http://purl.uniprot.org/citations/34454985http://purl.uniprot.org/core/author"Huilaja L."xsd:string
http://purl.uniprot.org/citations/34454985http://purl.uniprot.org/core/author"Peltonen S."xsd:string
http://purl.uniprot.org/citations/34454985http://purl.uniprot.org/core/author"Laisk T."xsd:string
http://purl.uniprot.org/citations/34454985http://purl.uniprot.org/core/author"Kettunen J."xsd:string
http://purl.uniprot.org/citations/34454985http://purl.uniprot.org/core/author"Salmi T."xsd:string
http://purl.uniprot.org/citations/34454985http://purl.uniprot.org/core/author"Sliz E."xsd:string
http://purl.uniprot.org/citations/34454985http://purl.uniprot.org/core/author"Koulu L."xsd:string
http://purl.uniprot.org/citations/34454985http://purl.uniprot.org/core/date"2022"xsd:gYear
http://purl.uniprot.org/citations/34454985http://purl.uniprot.org/core/name"J Allergy Clin Immunol"xsd:string
http://purl.uniprot.org/citations/34454985http://purl.uniprot.org/core/pages"1105-1112.e9"xsd:string
http://purl.uniprot.org/citations/34454985http://purl.uniprot.org/core/title"Uniting biobank resources reveals novel genetic pathways modulating susceptibility for atopic dermatitis."xsd:string
http://purl.uniprot.org/citations/34454985http://purl.uniprot.org/core/volume"149"xsd:string
http://purl.uniprot.org/citations/34454985http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/34454985
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http://purl.uniprot.org/uniprot/#_A8K3Q8-mappedCitation-34454985http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/34454985
http://purl.uniprot.org/uniprot/#_A8K4B1-mappedCitation-34454985http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/34454985
http://purl.uniprot.org/uniprot/#_O75635-mappedCitation-34454985http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/34454985
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