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The genetics of axial spondyloarthritis 

The genetics of axial spondyloarthritis
Chapter:
The genetics of axial spondyloarthritis
Author(s):

Stefan Siebert

, Sengupta Raj

, and Alexander Tsoukas

DOI:
10.1093/med/9780198755296.003.0004
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date: 23 September 2020

Family and twin studies have long suggested a large genetic component in ankylosing spondylitis (AS). The genetic association with HLA-B27 remains one of the strongest single gene variant associations reported in any complex polygenic disease. The exact mechanism by which HLA-B27 contributes to AS remains unknown, with three main theories proposed: the arthritogenic peptide, endoplasmic reticulum stress with unfolded protein response, and homodimerization theories. Genome-wide association studies have identified a number of other important susceptibility genes for AS, several of which overlap with other spondyloarthritis conditions. Of these, ERAP1 and IL-23R, are covered in more detail, highlighting their functional importance.

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