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Pathogenesis

Australo-Anglo-American Spondyloarthritis Consortium (TASC), Reveille JD, Sims AM, Danoy P et al.

 Nat Genet 2010;42:123–7.

These authors performed a genome-wide association study on almost 3000 patients with ankylosing spondylitis and approximately 7000 controls. They confirmed known associations, including those with the interleukin-23 receptor (IL23R) and endoplasmic reticulum aminopeptidase 1 (ERAP1), and found new associations in the IL-1 pathways and in “gene deserts”.

 

The association of ankylosing spondylitis (AS) with the major histocompatibility complex (MHC) – namely HLA-B27 – is well known, but are there other genetic clues to the pathogenesis of this disease? This group, entitled TASC (The Australo-Anglo-American Spondyloarthritis Consortium), performed the first genome-wide association study in AS to examinethis possibility.

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