Abstract
The most well-known genetic association in axial spondyloarthritis is the presence of HLA-B27 antigen, however the prevalence of HLA-B27 antigen is about 6-8% in general population and about 2% carriers develop spondyloarthritis. The prevalence of the antigen and also the prevalence of the disease differ geographically and the difference can be visible also across ethnical groups.
I recent genetic research were found also others genetic variants (DPA1 or DRB1), which are included in MHC complexes and also genetic variants of intracellular proteins (ERAP1, ERAP2, LNPEP, NPEPPS,...) suspected with association with the disease development. In peripheral arthritis and especially in psoriatic arthritis the HLA-B27 positivity is also described as a strong genetic marker of the disease.
Well-known is also association with HLA-Cw6 and others (HLA-B39 and HLADQw3) from MHC complex. Recent genetic studies in axial and peripheral arthritis focused on IL-23/IL-17 signal pathway where SNP of different protein signal transfers (IL-12B, IL- 23R, TNIP1, TRAF3IP2 or NFKBIA) could have the influence on disease development.