{
  "abstract": "Sporadic hidradenitis suppurativa (spHS) is a multifactorial disease in which genetic predisposition is intertwined with environmental factors. Owing to the still-to-date limited knowledge of spHS genetics, we calculated polygenic scores (PGSs) to study the genetic underpinnings that contribute to spHS within European demographic. A total of 256 patients with spHS and 1686 healthy controls were analyzed across 6 European clinical centers. PGSs were calculated using a clumping and thresholding technique on 70% of the total sample, with the remaining 30% used for testing. The PANTHER tool was used to identify overrepresented genes. We generated a PGS characterized by 923 SNPs with a statistically significant association with spHS ( P = 2 × 10 −2 ). The statistically significant age-, sex-, and ancestry-adjusted association of our developed PGSs in spHS allows us to attribute a genetic contribution to the susceptibility of spHS (pseudo-R2 = 0.0053). Variants enriched for developing PGSs show a statistically significant preference for mapping to genes that encode primarily for cell adhesion proteins. Although this study developed a polygenic model associated with spHS, the low number of patients enrolled is a limitation. However, we believe that with larger experimental datasets, our model has the potential to serve as a valuable tool for predicting spHS states in future studies.",
  "abstract_shown": true,
  "affiliations": [],
  "article_type": null,
  "arxiv": null,
  "author_total": 29,
  "authors": [
    {
      "name": "Chiara Moltrasio"
    },
    {
      "name": "Ronald Moura"
    },
    {
      "name": "Andrea Conti"
    },
    {
      "name": "Luca Fania"
    },
    {
      "name": "Wolfram Jaschke"
    },
    {
      "name": "Raffaele Dante Caposiena Caro"
    },
    {
      "name": "Karin Chersi"
    },
    {
      "name": "Flavia Manzo Margiotta"
    },
    {
      "name": "Antonella Di Cesare"
    },
    {
      "name": "Elia Rosi"
    },
    {
      "name": "Florian Regensberger"
    },
    {
      "name": "Barbara Boeckle"
    },
    {
      "name": "Nina Frischhut"
    },
    {
      "name": "Stefania Cappellani"
    },
    {
      "name": "Cecilia del Vecchio"
    },
    {
      "name": "Elena Maria Nardacchione"
    },
    {
      "name": "Iris Zalaudek"
    },
    {
      "name": "Esther von Stebut"
    },
    {
      "name": "Irene Berti"
    },
    {
      "name": "Michele Boniotto"
    },
    {
      "name": "Adamo Pio D’adamo"
    },
    {
      "name": "Matthias Schmuth"
    },
    {
      "name": "Valentina Dini"
    },
    {
      "name": "Francesca Prignano"
    },
    {
      "name": "Damiano Abeni"
    },
    {
      "name": "Andrea Chiricozzi"
    },
    {
      "name": "Angelo Valerio Marzano"
    },
    {
      "name": "Sergio Crovella"
    },
    {
      "name": "Paola Maura Tricarico"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/cj65zr44m8bc1.bib",
  "cited_by": 12,
  "doi": "10.1016/j.jid.2024.11.019",
  "fulltext_url": null,
  "id": "cj65zr44m8bc1",
  "issns": [
    "0022-202X",
    "1523-1747"
  ],
  "landing_url": "https://hal.science/hal-05797160v1",
  "language": "en",
  "licence": "CC-BY-NC-ND",
  "licence_label": "CC BY-NC-ND",
  "licence_source": "journal",
  "licence_url": "https://creativecommons.org/licenses/by-nc-nd/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "hal",
      "0.sdv"
    ],
    [
      "openalex",
      "2708|Hidradenitis Suppurativa and Treatments"
    ]
  ],
  "openalex": "W4405854462",
  "pdf_url": "https://www.jidonline.org/article/S0022-202X(24)03042-2/pdf",
  "pmcid": null,
  "pmid": null,
  "published": "2026-10-13",
  "publisher": "Nature Publishing Group",
  "ris": "https://research.draconitic.com/paper/cj65zr44m8bc1.ris",
  "sources": [
    {
      "first_seen": "2026-10-30T12:17:56Z",
      "native_id": "hal-05797160",
      "source": "hal",
      "url": "https://hal.science/hal-05797160v1"
    }
  ],
  "subjects": [
    {
      "field": "biology",
      "origin": "hal:0.sdv",
      "subfield": "general"
    }
  ],
  "title": "Polygenic Score: A Tool for Evaluating the Genetic Background of Sporadic Hidradenitis Suppurativa",
  "title_text": "Polygenic Score: A Tool for Evaluating the Genetic Background of Sporadic Hidradenitis Suppurativa",
  "type": "peer-reviewed",
  "updated_at": "2026-10-30T12:17:56Z",
  "url": "https://research.draconitic.com/paper/cj65zr44m8bc1",
  "venue": "Journal of Investigative Dermatology",
  "versions": []
}