Programmed cell death-1 rs2227981 polymorphism in patients with autoimmune skin blistering disorders: A pilot study
| Autor: | Anna Chiara Frigo, Anna Michelotto, Irene Russo, Alvise Sernicola, Valentina Faina, Mauro Alaibac, Vittorio Szathvary |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
integumentary system business.industry medicine.medical_treatment Single-nucleotide polymorphism Immunotherapy medicine.disease medicine.disease_cause Immune checkpoint Autoimmunity 03 medical and health sciences Pemphigus 030104 developmental biology 0302 clinical medicine 030220 oncology & carcinogenesis Immunology Genotype Genetics medicine Bullous pemphigoid skin and connective tissue diseases business Genotyping Genetics (clinical) |
| Popis: | Mutations of the PD-1 gene affect immune checkpoint function and influence the development of autoimmune disorders. Pemphigus and bullous pemphigoid are cutaneous autoimmune blistering disorders that can be triggered by several medications, including PD-1 immune checkpoint inhibitors. The onset of blistering skin disorders and other immune-related adverse events associated with anti-PD-1 immunotherapy supports the role of the PD-1 pathway in the development of autoimmunity. The rs2227981 single nucleotide polymorphism of the PD-1 gene has been investigated in cancer and autoimmune disorders but its relationship with autoimmune skin blistering disorders has not been previously explored. The authors performed a case-control study to assess associations between rs2227981 polymorphism and autoimmune blistering disease. 92 patients with pemphigus, 81 patients with bullous pemphigoid and 75 healthy controls were enrolled. DNA, obtained from serum samples, was analyzed using StepOnePlus Real-Time PCR with a pre-constituted TaqMan probe for Assay-by-Design Genotyping Assays (Thermo Fisher Scientific, Waltham, MA). A statistically significant difference compared to controls was shown for patients with pemphigus in the distribution of variant allele T (p = 0.04575) and related genotypes (CT + TT) (p = 0.0317, OR = 0.482 95% CI: 0.248 to 0.938), which were more frequent in controls, but no difference was apparent for patients with bullous pemphigoid. These results suggest that the rs2227981 polymorphism may possibly protect from pemphigus. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|