Comprehensive Catalog of Variants Potentially Associated with Hidradenitis Suppurativa, Including Newly Identified Variants from a Cohort of 100 Patients
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 such as metabolic syndrome and inflammatory bowel disease. Genetic studies have identified mutations in the γ-secretase complex that affect Notch signaling pathways critical for skin cell regulation. Despite its high heritability, most reported HS cases do not follow a simple genetic pattern. In this article, we performed 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. 91 variants were associated with the γ-secretase complex, and 78 variants were associated with other genes involved in the Notch pathway, keratinization, or immune response. Through this new genetic analysis, we have added ten new variants to the existing catalogs. All variants are available in a .vcf file and are provided as a resource for future studies.
Authors
- Florian Sandron (ORCID: https://orcid.org/0000-0001-7491-0283)
- Sophie Hüe (ORCID: https://orcid.org/0000-0002-2530-7346)
- Vincent Meyer (ORCID: https://orcid.org/0000-0001-9144-1618)
- Bertrand Boisson (ORCID: https://orcid.org/0000-0001-5240-3555)
- Kévin Muret (ORCID: https://orcid.org/0000-0003-3988-7772)
- Robert Olaso (ORCID: https://orcid.org/0000-0001-7631-9657)
- Édith Le Floch (ORCID: https://orcid.org/0000-0001-8365-9529)
- Lilia Mesrob
- P. Wolkenstein (ORCID: https://orcid.org/0000-0001-8194-457X)
- Éric Bonnet (ORCID: https://orcid.org/0000-0002-8468-2867)
- Claire Dandine‐Roulland (ORCID: https://orcid.org/0000-0002-3340-2001)
- Jean‐Laurent Casanova (ORCID: https://orcid.org/0000-0002-7782-4169)
- Vincent Le Goff
- Delphine Daian (ORCID: https://orcid.org/0000-0002-6965-8244)
- Francette Jean‐Louis (ORCID: https://orcid.org/0000-0001-7438-4906)
- Claire Hotz (ORCID: https://orcid.org/0000-0001-8347-9026)
- Jean‐François Deleuze
- Yves Lévy
Institutions
- Howard Hughes Medical Institute (US)
- Inserm (FR)
- Université Paris Cité (FR)
- Commissariat à l'Énergie Atomique et aux Énergies Alternatives (FR)
- Université Paris-Saclay (FR)
- Fondation Jean Dausset-CEPH (FR)
- Centre National de Recherche en Génomique Humaine (FR)
- Assistance Publique – Hôpitaux de Paris (FR)
- Institut de Recherche Vaccinale (FR)
- CEA Paris-Saclay (FR)
- Institut de Psychiatrie et Neurosciences de Paris (FR)
- Hôpitaux Universitaires Henri-Mondor (FR)
- Institut Mondor de Recherche Biomédicale (FR)
- Institut des Maladies Génétiques Imagine (FR)
- Rockefeller University (US)
Publication Details
- Journal
- International Journal of Molecular Sciences
- Published
- 2024-09-26
- DOI
- https://doi.org/10.3390/ijms251910374
- Primary Topic
- Hidradenitis Suppurativa and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 0.00