Different molecular pathways are disrupted in Pyoderma gangrenosum patients and are associated with the severity of the disease.
المؤلف | Moura, Ronald Rodrigues |
المؤلف | Brandão, Lucas |
المؤلف | Moltrasio, Chiara |
المؤلف | Agrelli, Almerinda |
المؤلف | Tricarico, Paola Maura |
المؤلف | Maronese, Carlo Alberto |
المؤلف | Crovella, Sergio |
المؤلف | Marzano, Angelo Valerio |
تاريخ الإتاحة | 2023-03-28T08:37:09Z |
تاريخ النشر | 2023-03-25 |
اسم المنشور | Scientific Reports |
المعرّف | http://dx.doi.org/10.1038/s41598-023-31914-z |
الاقتباس | Moura, R.R., Brandão, L., Moltrasio, C. et al. Different molecular pathways are disrupted in Pyoderma gangrenosum patients and are associated with the severity of the disease. Sci Rep 13, 4919 (2023). https://doi.org/10.1038/s41598-023-31914-z |
الملخص | Pyoderma gangrenosum (PG) is a rare inflammatory skin disease classified within the spectrum of neutrophilic dermatoses. The pathophysiology of PG is yet incompletely understood but a prominent role of genetics facilitating immune dysregulation has been proposed. This study investigated the potential contribution of disrupted molecular pathways in determining the susceptibility and clinical severity of PG. Variant Enrichment Analysis, a bioinformatic pipeline applicable for Whole Exome Sequencing data was performed in unrelated PG patients. Eleven patients were enrolled, including 5 with unilesional and 6 with multilesional PG. Fourteen pathways were exclusively enriched in the "multilesional" group, mainly related to immune system (i.e., type I interferon signaling pathway), cell metabolism and structural functions. In the "unilesional" group, nine pathways were found to be exclusively enriched, mostly related to cell signaling and cell metabolism. Genetically altered pathways involved in immune system biology and wound repair appear to be nodal pathogenic drivers in PG pathogenesis. |
راعي المشروع | This work was supported by a Biomolecular Analyses for Tailored Medicine in AcneiNversa (BATMAN) project, funded by ERA PerMed, by a grant from the Institute for Maternal and Child Health IRCCS ‘Burlo Garofolo/Italian Ministry of Health’ (RC16/2018), by a grant from Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico of Milan (Protocol No. 487_2020) and by Starting Grant (SG-2019- 12369421) founded by the Italian Ministry of Health. |
اللغة | en |
الناشر | Nature Research |
الموضوع | Pyoderma gangrenosum Whole exome sequencing bioinformatics |
النوع | Article |
رقم المجلد | 13 |
ESSN | 2045-2322 |
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