Dermatology Unit, Department of Medicine (DIMED), University of Padua, 35121 Padova, Italy.
Biomolecules. 2024 Sep 12;14(9):1150. doi: 10.3390/biom14091150.
Autoimmune blistering diseases of the pemphigus and pemphigoid groups are immune-mediated disorders due to circulating pathogenetic autoantibodies. Multiple human leukocyte antigen (HLA) genes have been associated with predisposition to these disorders. HLA-Cw6 is involved in antigen presentation processes and has been linked to psoriasis. The aim of our study was to investigate the association between the presence of the HLA-Cw6 allele and susceptibility to pemphigus vulgaris and bullous pemphigoid. A genetic study in vitro with a cross-sectional design was performed enrolling forty patients with pemphigus vulgaris and forty patients with bullous pemphigoid. The detection of HLA-Cw6 was performed through the EUROArray test on DNA obtained from whole blood samples. The polymorphism was detected in 3/40 genotypes in the pemphigus vulgaris group and in 4/40 genotypes of patients with bullous pemphigoid, unveiling a non-statistically significant different frequency in pemphigus ( = 0.6368) and in pemphigoid ( = 0.62) compared to the reference frequency from the literature of 0.086. Further research is needed to better investigate the role of HLA-Cw6 in immune-mediated diseases and to identify novel genetic markers associated with susceptibility to autoimmune blistering diseases and with disease severity and response to immunosuppressive therapies.
自身免疫性大疱性疾病包括天疱疮和类天疱疮，是由于循环致病性自身抗体引起的免疫介导性疾病。多种人类白细胞抗原（HLA）基因与这些疾病的易感性有关。HLA-Cw6 参与抗原呈递过程，并与银屑病有关。我们的研究目的是探讨 HLA-Cw6 等位基因的存在与寻常型天疱疮和大疱性类天疱疮易感性之间的关联。采用横断面设计的体外遗传研究纳入了 40 例寻常型天疱疮患者和 40 例大疱性类天疱疮患者。通过 EUROArray 试验检测全血样本 DNA 中的 HLA-Cw6。在寻常型天疱疮组的 3/40 基因型和大疱性类天疱疮患者的 4/40 基因型中检测到该多态性，与文献中的参考频率 0.086 相比，寻常型天疱疮（ = 0.6368）和大疱性类天疱疮（ = 0.62）的频率无统计学差异。需要进一步研究以更好地探讨 HLA-Cw6 在免疫介导性疾病中的作用，并确定与自身免疫性大疱性疾病易感性以及疾病严重程度和免疫抑制治疗反应相关的新型遗传标记。
