ankylosing spondylitis

Susceptibility

 major histocompatibility complex (MHC) region

• HLA B27
• rs13202464 within the MHC region mainly represents the risk effect of HLA-B*27 variants (including HLA-B*2704, HLA-B*2705 and HLA-B*2715) (Chinese)

 Locus 2q13 (IL1 cluster) (15309690)
 EDIL3 and HAPLN1 at 5q14.3 (rs4552569) (bone formation and cartilage development)
 ANO6 at 12q12 (rs17095830) (bone formation and cartilage development)
 2p15 (rs10865331)

Reviews

 Sims AM, Wordsworth BP, Brown MA. Genetic susceptibility to ankylosing spondylitis. Curr Mol Med. 2004 Feb;4(1):13-20. PMID: 15011955

 Baeten D, De Keyser F. The histopathology of spondyloarthropathy. Curr Mol Med. 2004 Feb;4(1):1-12. PMID: 15011954

References

 A genome-wide association study in Han Chinese identifies new susceptibility loci for ankylosing spondylitis. Lin Z, Bei JX, Shen M, Li Q, Liao Z, Zhang Y, Lv Q, Wei Q, Low HQ, Guo YM, Cao S, Yang M, Hu Z, Xu M, Wang X, Wei Y, Li L, Li C, Li T, Huang J, Pan Y, Jin O, Wu Y, Wu J, Guo Z, He P, Hu S, Wu H, Song H, Zhan F, Liu S, Gao G, Liu Z, Li Y, Xiao C, Li J, Ye Z, He W, Liu D, Shen L, Huang A, Wu H, Tao Y, Pan X, Yu B, Tai ES, Zeng YX, Ren EC, Shen Y, Liu J, Gu J. Nat Genet. 2011 Dec 4;44(1):73-7. PMID: 22138694