Comprehensive Catalog of Variants Potentially Associated with Hidradenitis Suppurativa, Including Newly Identified Variants from a Cohort of 100 Patients

Kevin Muret; Vincent Le Goff; Claire Dandine-Roulland; Claire Hotz; Francette Jean-Louis; Bertrand Boisson; Lilia Mesrob; Florian Sandron; Delphine Daian; Robert Olaso; Edith Le Floch; Vincent Meyer; Pierre Wolkenstein; Jean-Laurent Casanova; Yves Levy; Eric Bonnet; Jean-François Deleuze; Sophie Hüe

doi:10.20944/preprints202408.0431.v1

How to cite: Muret, K.; Le Goff, V.; Dandine-Roulland, C.; Hotz, C.; Jean-Louis, F.; Boisson, B.; Mesrob, L.; Sandron, F.; Daian, D.; Olaso, R.; Le Floch, E.; Meyer, V.; Wolkenstein, P.; Casanova, J.-L.; Levy, Y.; Bonnet, E.; Deleuze, J.-F.; Hüe, S. Comprehensive Catalog of Variants Potentially Associated with Hidradenitis Suppurativa, Including Newly Identified Variants from a Cohort of 100 Patients. Preprints 2024, 2024080431. https://doi.org/10.20944/preprints202408.0431.v1 Muret, K.; Le Goff, V.; Dandine-Roulland, C.; Hotz, C.; Jean-Louis, F.; Boisson, B.; Mesrob, L.; Sandron, F.; Daian, D.; Olaso, R.; Le Floch, E.; Meyer, V.; Wolkenstein, P.; Casanova, J.-L.; Levy, Y.; Bonnet, E.; Deleuze, J.-F.; Hüe, S. Comprehensive Catalog of Variants Potentially Associated with Hidradenitis Suppurativa, Including Newly Identified Variants from a Cohort of 100 Patients. Preprints 2024, 2024080431. https://doi.org/10.20944/preprints202408.0431.v1

Abstract

Hidradenitis suppurativa (HS) is a chronic skin disease characterized by painful, recurrent abscesses, nodules, and scarring, primarily in skin folds. The exact causes of HS are multifactorial, involving genetic, hormonal, and environmental factors. It is associated with systemic diseases like metabolic syndrome and inflammatory bowel disease. Genetic studies have identified mutations in the γ-secretase complex, which affects Notch signaling pathways critical for skin cell regulation. Despite its high heritability, most HS reported cases do not follow a simple genetic pattern. In this article, we performed a whole-exome sequencing (WES) on a cohort of 100 individuals with HS and we provide a comprehensive review of the variants known to be described or associated with HS, referencing 91 of them in the γ-secretase and 78 in other genes involved in the Notch pathway, keratinization, or immune response. From this new genetic analysis, we add ten new variants to these catalogs.

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Comprehensive Catalog of Variants Potentially Associated with Hidradenitis Suppurativa, Including Newly Identified Variants from a Cohort of 100 Patients

Abstract

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