Identification of variants in genes associated with autoinflammatory disorders in a cohort of patients with psoriatic arthritis

• DOI: 10.1136/rmdopen-2022-002561
• Publication Date: 2022-09-16T17:12:59Z
• Authors: Faranaz Atschekzei; Natalia Dubrowins...; Manfred Anim; Thea Thiele; Torsten Witte; Georgios Sogkas
• Keywords: Identification

Besides adaptive immunity genes, genetic risk factors for psoriatic arthritis (PsA) include innate loci, which suggests an autoinflammatory disease mechanism, at least in a subset of patients. Here, we aimed investigating the background PsA. A total 120 patients with PsA visiting outpatient clinics Hannover University hospital underwent targeted next-generation sequencing, searching variations genes linked inborn errors classified as disorders (AIDs). Deleteriousness rare variants was evaluated through silico analysis. We found 45 predicted deleterious 37 out (30.8%) Relatively common were AP1S3, PLCG2, NOD2 and NLRP12. All monoallelic 25 them, identified 20 (16.7%) patients, localised associated autosomal dominant (AD) disorders. Detection those is pustular psoriasis or coexisting inflammatory bowel (IBD). Approximately 30% harboured one variant gene AID, suggesting mechanism. to AD-AIDs may explain extra-articular manifestations PsA, such IBD.