Polygenic Score: A Tool for Evaluating the Genetic Background of Sporadic Hidradenitis Suppurativa
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.
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BibTeX
@article{moltrasio2026polygenic,
title = {{Polygenic Score: A Tool for Evaluating the Genetic Background of Sporadic Hidradenitis Suppurativa}},
author = {Chiara Moltrasio and Ronald Moura and Andrea Conti and Luca Fania and Wolfram Jaschke and Raffaele Dante Caposiena Caro and Karin Chersi and Flavia Manzo Margiotta and Antonella Di Cesare and Elia Rosi and Florian Regensberger and Barbara Boeckle and Nina Frischhut and Stefania Cappellani and Cecilia del Vecchio and Elena Maria Nardacchione and Iris Zalaudek and Esther von Stebut and Irene Berti and Michele Boniotto and Adamo Pio D’adamo and Matthias Schmuth and Valentina Dini and Francesca Prignano and Damiano Abeni and Andrea Chiricozzi and Angelo Valerio Marzano and Sergio Crovella and Paola Maura Tricarico},
journal = {Journal of Investigative Dermatology},
year = {2026},
month = oct,
doi = {10.1016/j.jid.2024.11.019},
url = {https://hal.science/hal-05797160v1},
note = {CC BY-NC-ND},
}
RIS
TY - JOUR
TI - Polygenic Score: A Tool for Evaluating the Genetic Background of Sporadic Hidradenitis Suppurativa
AU - Chiara Moltrasio
AU - Ronald Moura
AU - Andrea Conti
AU - Luca Fania
AU - Wolfram Jaschke
AU - Raffaele Dante Caposiena Caro
AU - Karin Chersi
AU - Flavia Manzo Margiotta
AU - Antonella Di Cesare
AU - Elia Rosi
AU - Florian Regensberger
AU - Barbara Boeckle
AU - Nina Frischhut
AU - Stefania Cappellani
AU - Cecilia del Vecchio
AU - Elena Maria Nardacchione
AU - Iris Zalaudek
AU - Esther von Stebut
AU - Irene Berti
AU - Michele Boniotto
AU - Adamo Pio D’adamo
AU - Matthias Schmuth
AU - Valentina Dini
AU - Francesca Prignano
AU - Damiano Abeni
AU - Andrea Chiricozzi
AU - Angelo Valerio Marzano
AU - Sergio Crovella
AU - Paola Maura Tricarico
PY - 2026
DA - 2026/10/13
JO - Journal of Investigative Dermatology
DO - 10.1016/j.jid.2024.11.019
UR - https://hal.science/hal-05797160v1
AB - 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.
SN - 0022-202X
SN - 1523-1747
ER -