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

Eeva Sliz, Laura Huilaja, Anu Pasanen, Triin Laisk, Ene Reimann, Reedik Mägi, Katariina Hannula-Jouppi, Sirkku Peltonen, Teea Salmi, Leena Koulu, Kaisa Tasanen, Johannes Kettunen

Tutkimustuotos: ArtikkeliScientificvertaisarvioitu

2 Lataukset (Pure)

Abstrakti

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.

AlkuperäiskieliEnglanti
JulkaisuJournal of Allergy and Clinical Immunology
Varhainen verkossa julkaisun päivämäärä27 elok. 2021
DOI - pysyväislinkit
TilaJulkaistu - 2022
OKM-julkaisutyyppiA1 Alkuperäisartikkeli tieteellisessä aikakauslehdessä

Julkaisufoorumi-taso

  • Jufo-taso 3

!!ASJC Scopus subject areas

  • Immunology and Allergy
  • Immunology

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