A genome-wide association meta-analysis links hidradenitis suppurativa to common and rare sequence variants causing disruption of the Notch and Wnt/β-catenin signaling pathways

A genome-wide association meta-analysis links hidradenitis suppurativa to common and rare sequence variants causing disruption of the Notch and Wnt/β-catenin signaling pathways

The contributions of genetic and environmental risk factors to hidradenitis suppurativa (HS) are both poorly understood. To identify sequence variants that associate with HS and determine the contribution of environmental risk factors and inflammatory diseases to HS pathogenesis. A genome-wide assoc...

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Veröffentlicht in:Journal of the American Academy of Dermatology 2024-12
Hauptverfasser: Andersen, R Kjærsgaard, Stefansdottir, L., Riis, P Theut, Halldorsson, Gh, Ferkingstad, E., Oddsson, A., Walters, G.B., Olafsdottir, Thorunn A., Rutsdottir, G., Zachariae, C., Thomsen, S.F., Brodersen, T., Dinh, K.M., Knowlton, K.U., Knight, S., Nadauld, L.D., Banasik, K., Brunak, S., Hansen, T.F., Hjalgrim, H., Sørensen, E., Mikkelsen, C., Ullum, H., Nyegaard, M., Bruun, M.T., Erikstrup, C., Ostrowski, S.R., Eidsmo, L., Saunte, D.M.L., Sigurgeirsson, B., Orvar, K.B., Saemundsdottir, J., Melsted, P., Norddahl, G.L., Sulem, P., Stefansson, H., Holm, H., Gudbjartsson, D., Thorleifsson, G., Jonsdottir, I., Pedersen, O.B.V., Jemec, G.B.E., Stefansson, K.
Format: Artikel
Sprache:eng
Schlagworte:
causality
genetics
Genome-wide association study
GWAS
Hidradenitis suppurativa
inheritance
NOTCH
Notch signaling
pathway analysis
WNT
Wnt signaling
γ-secretase
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Zusammenfassung:The contributions of genetic and environmental risk factors to hidradenitis suppurativa (HS) are both poorly understood. To identify sequence variants that associate with HS and determine the contribution of environmental risk factors and inflammatory diseases to HS pathogenesis. A genome-wide association meta-analysis of 4,814 HS cases (Denmark: 1,977; Iceland: 1,266; Finland: 800; UK: 569 and US: 202) and 1.2 million controls, searching for sequence variants associated with HS. We found 8 independent sequence variants associating with HS, 6 common and 2 rare (frequency
ISSN:0190-9622
1097-6787
1097-6787
DOI:10.1016/j.jaad.2024.11.050