{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T04:49:07Z","timestamp":1787028547985,"version":"build-2736575974"},"reference-count":156,"publisher":"MDPI AG","issue":"19","license":[{"start":{"date-parts":[[2024,9,26]],"date-time":"2024-09-26T00:00:00Z","timestamp":1727308800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"French \u201cAgence Nationale de la Recherche\u201d (ANR)","award":["ANR-20-CE17-0019"],"award-info":[{"award-number":["ANR-20-CE17-0019"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>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 \u03b3-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 \u03b3-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.<\/jats:p>","DOI":"10.3390\/ijms251910374","type":"journal-article","created":{"date-parts":[[2024,9,26]],"date-time":"2024-09-26T09:46:20Z","timestamp":1727343980000},"page":"10374","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Comprehensive Catalog of Variants Potentially Associated with Hidradenitis Suppurativa, Including Newly Identified Variants from a Cohort of 100 Patients"],"prefix":"10.3390","volume":"25","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3988-7772","authenticated-orcid":false,"given":"K\u00e9vin","family":"Muret","sequence":"first","affiliation":[{"name":"Centre National de Recherche en G\u00e9nomique Humaine (CNRGH), Institut de Biologie Fran\u00e7ois Jacob, CEA, Universit\u00e9 Paris-Saclay, 91000 Evry, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincent","family":"Le Goff","sequence":"additional","affiliation":[{"name":"Centre National de Recherche en G\u00e9nomique Humaine (CNRGH), Institut de Biologie Fran\u00e7ois Jacob, CEA, Universit\u00e9 Paris-Saclay, 91000 Evry, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claire","family":"Dandine-Roulland","sequence":"additional","affiliation":[{"name":"Centre National de Recherche en G\u00e9nomique Humaine (CNRGH), Institut de Biologie Fran\u00e7ois Jacob, CEA, Universit\u00e9 Paris-Saclay, 91000 Evry, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claire","family":"Hotz","sequence":"additional","affiliation":[{"name":"Public Health Department, Henri-Mondor Hospital, Assistance Publique-H\u00f4pitaux de Paris (AP-HP), 94000 Cr\u00e9teil, France"},{"name":"Transversal Dermatology Unit, Jacques Puel Hospital Center, 12000 Rodez, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7438-4906","authenticated-orcid":false,"given":"Francette","family":"Jean-Louis","sequence":"additional","affiliation":[{"name":"Team 16, Vaccine Research Institute (VRI), INSERM U955, Institut Mondor de Recherche Biom\u00e9dicale (IMRB), Henri-Mondor Hospital, UPEC, 94000 Cr\u00e9teil, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bertrand","family":"Boisson","sequence":"additional","affiliation":[{"name":"St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lilia","family":"Mesrob","sequence":"additional","affiliation":[{"name":"Centre National de Recherche en G\u00e9nomique Humaine (CNRGH), Institut de Biologie Fran\u00e7ois Jacob, CEA, Universit\u00e9 Paris-Saclay, 91000 Evry, France"},{"name":"INSERM U1266, Institute of Psychiatry and Neuroscience of Paris (IPNP), Paris Cit\u00e9 University, 75014 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7491-0283","authenticated-orcid":false,"given":"Florian","family":"Sandron","sequence":"additional","affiliation":[{"name":"Centre National de Recherche en G\u00e9nomique Humaine (CNRGH), Institut de Biologie Fran\u00e7ois Jacob, CEA, Universit\u00e9 Paris-Saclay, 91000 Evry, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Delphine","family":"Daian","sequence":"additional","affiliation":[{"name":"Centre National de Recherche en G\u00e9nomique Humaine (CNRGH), Institut de Biologie Fran\u00e7ois Jacob, CEA, Universit\u00e9 Paris-Saclay, 91000 Evry, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7631-9657","authenticated-orcid":false,"given":"Robert","family":"Olaso","sequence":"additional","affiliation":[{"name":"Centre National de Recherche en G\u00e9nomique Humaine (CNRGH), Institut de Biologie Fran\u00e7ois Jacob, CEA, Universit\u00e9 Paris-Saclay, 91000 Evry, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edith","family":"Le Floch","sequence":"additional","affiliation":[{"name":"Centre National de Recherche en G\u00e9nomique Humaine (CNRGH), Institut de Biologie Fran\u00e7ois Jacob, CEA, Universit\u00e9 Paris-Saclay, 91000 Evry, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincent","family":"Meyer","sequence":"additional","affiliation":[{"name":"Centre National de Recherche en G\u00e9nomique Humaine (CNRGH), Institut de Biologie Fran\u00e7ois Jacob, CEA, Universit\u00e9 Paris-Saclay, 91000 Evry, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre","family":"Wolkenstein","sequence":"additional","affiliation":[{"name":"Public Health Department, Henri-Mondor Hospital, Assistance Publique-H\u00f4pitaux de Paris (AP-HP), 94000 Cr\u00e9teil, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Laurent","family":"Casanova","sequence":"additional","affiliation":[{"name":"St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA"},{"name":"Imagine Institute, Paris Cit\u00e9 University, 75015 Paris, France"},{"name":"Pediatric Hematology-Immunology and Rheumatology Unit, Necker Hospital for Sick Children, Assistance Publique-H\u00f4pitaux de Paris (AP-HP), 75015 Paris, France"},{"name":"Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, 75015 Paris, France"},{"name":"Howard Hughes Medical Institute, New York, NY 10032, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yves","family":"L\u00e9vy","sequence":"additional","affiliation":[{"name":"Public Health Department, Henri-Mondor Hospital, Assistance Publique-H\u00f4pitaux de Paris (AP-HP), 94000 Cr\u00e9teil, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8468-2867","authenticated-orcid":false,"given":"Eric","family":"Bonnet","sequence":"additional","affiliation":[{"name":"Centre National de Recherche en G\u00e9nomique Humaine (CNRGH), Institut de Biologie Fran\u00e7ois Jacob, CEA, Universit\u00e9 Paris-Saclay, 91000 Evry, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Fran\u00e7ois","family":"Deleuze","sequence":"additional","affiliation":[{"name":"Centre National de Recherche en G\u00e9nomique Humaine (CNRGH), Institut de Biologie Fran\u00e7ois Jacob, CEA, Universit\u00e9 Paris-Saclay, 91000 Evry, France"},{"name":"Centre d\u2019Etude du Polymorphisme Humain (CEPH), Fondation Jean Dausset, 75010 Paris, France"},{"name":"Centre de R\u00e9f\u00e9rence, d\u2019Innovation, d\u2019Expertise et de Transfert (CREFIX), 91000 Evry, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2530-7346","authenticated-orcid":false,"given":"Sophie","family":"H\u00fce","sequence":"additional","affiliation":[{"name":"Team 16, Vaccine Research Institute (VRI), INSERM U955, Institut Mondor de Recherche Biom\u00e9dicale (IMRB), Henri-Mondor Hospital, UPEC, 94000 Cr\u00e9teil, France"},{"name":"Biologic Immunology-Hematology Department, DMU Biologie, Henri-Mondor Hospital, Assistance Publique-H\u00f4pitaux de Paris (AP-HP), 94000 Cr\u00e9teil, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,9,26]]},"reference":[{"key":"ref_1","first-page":"17","article-title":"Hidradenitis 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