848 Generality and heterogeneity of HLA associations in autoimmune blistering disease spectrum

Background: Autoimmune blistering diseases (AIBDs) are a group of rare acquired skin diseases, which divided into five major subtypes based on the clinical appearance and pathology: pemphigus bullous pemphigoid (BP), epidermolysis bullosa acquisita (EBA), dermatitis herpetiformis (DH) Linear IgA dermatosis (LigA). Current understanding has been greatly increased by genetic investigations mainly focus HLA in various populations. We have conducted association studies different AIBDs Chinese population using Next-generation (NGS) typing methods. Objective: Upon these data, we aimed to investigate generality heterogeneity disease subtype population. Materials Method: A total number 369 (210 PV 159 PF), 575 BPs, 36 DHs, 33 LigAs, 17 EBAs 976 healthy controls were enrolled study. Genome-wide performed BPs. Associations study results NGS typing. Results: identified associations for AIBDs. For pemphigus, confirmed HLA-DQB1*05:03 be strongest with PF. In addition, HLA-DRB1*14 was demonstrated second independent variants PV, while HLA-DRB1*04:06 signal pemphigoid, HLA-DQB1*03:01 association, especially BP180-positive group. DH, HLA-B*08:01 HLA-DRB1*03:01 associations. None significant EBA LigA. Population analysis revealed effect AIBDs, DH. Conclusions: The investigation AIBD advanced genetics susceptibility offers molecular insight pathophysiological mechanisms.