Heterogeneity of axial spondyloarthritis: genetics, sex and structural damage matter

• DOI: 10.1136/rmdopen-2022-002302
• Publication Date: 2022-05-06T16:32:50Z
• Authors: Zhixiu Li; Sjef M van der Li...; Muhammad Asim Khan; Heinz Baumberger; Hermine van Zandwijk; Mohammad Kazim Khan; Peter M Villiger; Matthew A Brown
• Keywords: Axial spondyloarthritis; HLA-B27

Objective Axial spondyloarthritis (axSpA) comprises both radiographic and non-radiographic disease. However, the paucity of specific objective measures for disease current classification criteria showing suboptimal specificity contribute to heterogeneity observed in clinical practice research. We used a historical cohort patients with axSpA assess sources heterogeneity. Methods The study involved 363 probands recruited from membership Swiss Ankylosing Spondylitis Patient Society. Participants underwent examination by rheumatologist, completed questionnaires provided blood samples HLA typing. Patients radiography sacroiliac joints were categorised according New York (NY) (ankylosing spondylitis (AS) or (nr-axSpA)) HLA-B27 status. Genetic characterisation single nucleotide polymorphism microarray was performed AS polygenic risk scores (PRS) calculated. Results Considerable observed. male female ratio (NY+) 3:1, but 1:1 nr-axSpA. For HLA-27(+) AS, 2.5:1, nearly HLA-B27(−) Women nr-axSpA had strikingly lower mean PRS prevalence than men NY(+) AS. able distinguish not related healthy first-degree relatives. Radiographic sacroiliitis strongly associated HLA-B27, especially men. Conclusion clinically diagnosed without as group have that is distinct modified overall Given high degree heterogeneity, stratified adjusted analysis effectiveness studies indicated, taking genetics, sex damage (sacroiliitis) into account.