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AuthorMoltrasio, Chiara
AuthorTricarico, Paola Maura
AuthorRomagnuolo, Maurizio
AuthorMarzano, Angelo Valerio
AuthorCrovella, Sergio
Available date2022-08-29T05:31:43Z
Publication Date2022-08-21
Publication NameBiomedicines
Identifierhttp://dx.doi.org/10.3390/biomedicines10082039
CitationMoltrasio, C.; Tricarico, P.M.; Romagnuolo, M.; Marzano, A.V.; Crovella, S. Hidradenitis Suppurativa: A Perspective on Genetic Factors Involved in the Disease. Biomedicines 2022, 10, 2039. https://doi.org/10.3390/biomedicines10082039
URIhttp://hdl.handle.net/10576/33469
AbstractHidradenitis Suppurativa (HS) is a chronic inflammatory skin disease of the pilosebaceous unit, clinically consisting of painful nodules, abscesses, and sinus tracts mostly in, but not limited to, intertriginous skin areas. HS can be defined as a complex skin disease with multifactorial etiologies, including-among others-genetic, immunologic, epigenetic, and environmental factors. Based on genetic heterogeneity and complexity, three different forms can be recognized and considered separately as sporadic, familial, and syndromic. To date, several genetic variants associated to disease susceptibility, disease-onset, and/or treatment response have been reported; some of these reside in genes encoding the gamma-secretase subunits whereas others involve autoinflammatory and/or keratinization genes. The aim of this perspective work is to provide an overview of the contribution of several genetic studies encompassing family linkage analyses, target candidate gene studies, and -omic studies in this field. In our viewpoint, we discuss the role of genetics in Hidradenitis suppurativa considering findings based on Sanger sequencing as well as the more recent Next Generation Sequencing (i.e., exome sequencing or RNA Sequencing) with the aim of better understanding the etio-pathogenesis of the disease as well as identifying novel therapeutic strategies.
SponsorThisworkwassupportedbyaBiomolecularAnalysesforTailoredMedicineinAcneiNversa (BATMAN)project, funded by ERA PerMed (JTC_2018) to A.V.M and S.C. and by a Starting Grant (SG-2019-12369421) funded by the Italian Ministry of Health to P.M.T.
Languageen
PublisherMDPI
Subjectacne inversa
dermatological disease
genetic disease
hidradenitis suppurativa
TitleHidradenitis Suppurativa: A Perspective on Genetic Factors Involved in the Disease.
TypeArticle
Issue Number8
Volume Number10
ESSN2227-9059
dc.accessType Open Access


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