Reveille John D
Division of Rheumatology, Department of Internal Medicine, The University of Texas Houston Health Science Center at Houston, MSB 5.270, 6431 Fannin, Houston, TX 77030, USA.
Curr Rheumatol Rep. 2004 Apr;6(2):117-25. doi: 10.1007/s11926-004-0056-6.
Spondyloarthritis tends to cluster in families and, to a great extent, is associated with human leukocyte antigen (HLA) B27. In fact, the population frequency of spondyloarthritis in most groups is proportional to that of HLA-B27. But the frequency of HLA-B27 in the population-at-large far exceeds that of spondyloarthritis, suggesting other genetic factors also are operative. Other major histocompatibility complex genes have been implicated, especially HLA-DR, though linkage to HLA-B27 confounds the analysis of this in many studies. Genome-wide scans have implicated regions on chromosomes 2q, 6p, 6q, 10q, 11q, 16q, 17q, and 19q in ankylosing spondylitis, on 4, 6p, and 17q in psoriasis, and on 7q and 16q in inflammatory bowel disease. The search for non-major histocompatibility complex candidate genes has been complicated by inadequate power, because of the small effect they exert on overall disease susceptibility, although recent studies are revealing promising candidates that must be confirmed by other groups.
脊柱关节炎往往在家族中聚集，并且在很大程度上与人类白细胞抗原（HLA）B27相关。事实上，大多数群体中脊柱关节炎的人群发病率与HLA - B27的发病率成正比。但在普通人群中HLA - B27的频率远远超过脊柱关节炎的频率，这表明其他遗传因素也在起作用。其他主要组织相容性复合体基因也受到牵连，尤其是HLA - DR，不过在许多研究中，与HLA - B27的连锁关系混淆了对此的分析。全基因组扫描表明，强直性脊柱炎与2q、6p、6q、10q、11q、16q、17q和19号染色体上的区域有关，银屑病与4、6p和17q有关，炎症性肠病与7q和16q有关。寻找非主要组织相容性复合体候选基因的工作因效能不足而变得复杂，因为它们对总体疾病易感性的影响较小，不过最近的研究正在揭示一些有前景的候选基因，这些基因必须由其他研究团队加以证实。
