Spondyloarthritis: genetic burden and heritability

Authors: K. Grobelná
Authors‘ workplace: Revmatologický ústav, Revmatologická klinika 1. LF UK, Praha
Published in: Čes. Revmatol., 25, 2017, No. 2, p. 85-90.
Category: Review Article


Spondyloarthropathies (spondyloarthritides, SpA) belong to inflammatory rheumatologic diseases affecting the axial skeleton and peripheral joints. However, they can also manifest with extra-articular symptoms. According to prevailing disability we currently divide them into an axial and peripheral form. The longest known gene association of axial spondyloarthritis is the presence of HLA-B27 antigen. However, this antigen occurs in 6–8 % of the general population and only 2 % of the carriers of this antigen develop SpA during their lifespan. The prevalence of HLA-B27 antigen and the associated prevalence of ankylosing spondylitis (AS) differ not only geographically but also across ethnic groups. Other antigens of the MHC complex (DPA1 or DRB1) as well as gene variants of intracellular proteins (ERAP1, ERAP2, LNPEP, NPEPPS and others) have been found in genetic analyses, the presence of which increases the risk for developing the disease. In spite of great effort, however, only a small part of the heritability of axial spondyloarthritis has been elucidated to date. In peripheral forms, especially in psoriatic arthritis, frequent association with HLA-B27 antigen is also known, as well as an association with HLA-Cw6 antigens and other MHC complex antigens (HLA-B39 and HLA-DQw3). Other studies have shown novel gene variants of proteins that affect TNFα secretion or IL-17 immune response activation (IL-12B, IL-23R, TNIP1, TRAF3IP2, or NFKBIA) that could affect the development of the disease.

Key words:
Spondyloarthritis, heritability, ankylosing spondylitis, psoriatic arthritis


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