University of Queensland Diamantina Institute, Princess Alexandra Hospital, Brisbane, Woolloongabba, Queensland 4102, Australia.
Rheum Dis Clin North Am. 2012 Aug;38(3):539-53. doi: 10.1016/j.rdc.2012.08.018. Epub 2012 Sep 19.
Ankylosing spondylitis (AS) and spondyloarthritis are strongly genetically determined. The long-standing association with HLA-B27 is well described, although the mechanism by which that association induces AS remains uncertain. Recent developments include the description of HLA-B27 tag single nucleotide polymorphisms in European and Asian populations. An increasing number of non-MHC genetic associations have been reported, which provided amongst other things the first evidence of the involvement of the IL-23 pathway in AS. The association with ERAP1 is now known to be restricted to HLA-B27 positive disease. Preliminary studies on the genetics of axial spondyloarthritis demonstrate a lower HLA-B27 carriage rate compared with AS. Studies with larger samples and including non-European ethnic groups are likely to further advance the understanding of the genetics of AS and spondyloarthritis.
强直性脊柱炎（AS）和脊柱关节炎具有很强的遗传性。虽然 HLA-B27 与之相关的机制尚不清楚，但 HLA-B27 与 AS 的长期关联已得到充分描述。最近的研究进展包括在欧洲和亚洲人群中描述 HLA-B27 标签单核苷酸多态性。越来越多的非 MHC 遗传关联已被报道，其中包括 IL-23 途径参与 AS 的初步证据。目前已知 ERAP1 与 HLA-B27 阳性疾病相关。对轴性脊柱关节炎遗传学的初步研究表明，与 AS 相比，HLA-B27 的携带率较低。具有更大样本量并包括非欧洲族群的研究可能会进一步加深对 AS 和脊柱关节炎遗传的理解。
