Page 815 - Clinical Immunology_ Principles and Practice ( PDFDrive )

786 Part six Systemic Immune Diseases

Progress has been made in the classification and epidemiology observed with ankylosing spondylitis. Arthritis Rheumatol
of SpA, particularly in the elucidation of the factors involved 2015;67:140–51.
in SpA pathogenesis in recent years. It has become clear that 13. Reveille JD. The MHC and Ankylosing Spondylitis. Clin Rheum
HLA-B27, the primary genetic factor, functions in a variety 2014;33:749–57.
of roles, including “classic” antigen presentation. GWAS have 14. Reveille JD, Hirsch R, Dillon CF, et al. The prevalence of HLA-B27 in the
United States: data from the U.S. National Health and Nutrition
identified a vast number of susceptibility genes for SpA, including Examination Survey, 2009. Arthritis Rheum 2012;64:1407–11.
those in the antigen processing and Th17 pathways, some of 15. International Genetics of Ankylosing Spondylitis Consortium (IGAS),
which are shared by some or all SpA and others that are specific Cortes A, Hadler J, et al. Identification of multiple risk variants for
for a given disease. Their specific roles and how they interact ankylosing spondylitis through high-density genotyping of
are currently being elucidated, and with larger-scale studies and immune-related loci. Nat Genet 2013;45:730–8.
whole-genome sequencing, new candidates are being identified. 16. Delay ML, Turner MJ, Klenk EI, et al. HLA-B27 misfolding and the
However, less progress has been made with regard to nonge- unfolded protein response augment interleukin-23 production and are
netic factors. Despite what has been learned in ReA, no infectious associated with Th17 activation in transgenic rats. Arthritis Rheum
trigger has been identified in AS (and, in fact, there might be 2009;60:2633–43.
no specific trigger). The link of gut inflammation to the triggering 17. Ellinghaus D, Jostins L, Spain SL, et al. Analysis of five chronic
inflammatory diseases identifies 27 new associations and highlights
of AS is strongly suggested by data thus far, especially its possible disease-specific patterns at shared loci. Nat Genet 2016;48:510–18.
link to the gut microbiome. This is clearly an area of further 18. Genetic Analysis of Psoriasis Consortium and The Wellcome Trust Case
investigation. Control Consortium 2. A genomewide association study identifies new
Novel outcome measures have been developed that will help psoriasis susceptibility loci and an interaction between HLA-C and
provide better care to patients, especially in the area of imaging. ERAP1. Nat Genet 2010;42:985–90.
The advances in treatment have been most exciting, particularly 19. Cortes A, Maksymowych WP, Wordsworth BP, et al. Association study of
the development of biological treatments, which hold promise genes related to bone formation and resorption and the extent of
for a better future for patients with these diseases. radiographic change in ankylosing spondylitis. Ann Rheum Dis
2015;74:1387–93.
20. Costello ME, Robinson PC, Benham H, et al. The intestinal microbiome
in human disease and how it relates to arthritis and spondyloarthritis.
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