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Genetics of spondyloarthritis 

Genetics of spondyloarthritis
Chapter:
Genetics of spondyloarthritis
Author(s):

Matthew A. Brown

and John Reveille

DOI:
10.1093/med/9780198734444.003.0005
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date: 07 April 2020

In addition to sharing clinical, histopathological, and immunological features, spondyloarthritis (SpA) encompasses a group of diseases that are genetically linked through shared associations with HLA-B27, as well as other genes of the IL-23R and aminopeptidase groups. Great progress has been made since the development of the genome-wide association study approach, with better dissection of the HLA associations of this group of diseases, as well as the discovery of multiple genetic loci found outside of the major histocompatibility complex, in ankylosing spondylitis (AS) in particular. These genetic data shed light on the related pathogenesis of AS and psoriatic arthritis (PsA), inflammatory bowel disease (IBD)-related arthritis, and reactive arthritis (ReA). Genetic associations also strengthen the suggestive data that Behçet’s disease (BD) and Familial Mediterranean Fever (FMF) are related to the more classical forms of SpA.

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