Breban Maxime, Said-Nahal Roula, Hugot Jean-Pierre, Miceli-Richard Corinne
Department of Rheumatology, Medical University of Paris-Ile-de-France-Ouest, Hôpital Ambroise Paré, 9 avenue Charles de Graulle, 92100 Boulogne Billancourt, Paris, France.
Rheum Dis Clin North Am. 2003 Aug;29(3):575-94. doi: 10.1016/s0889-857x(03)00029-2.
Predisposition to SpA is largely determined by genetic factors including HLA-B27 and other as yet unknown genes that might be tracked by a positional cloning approach. Analysis performed on a large cohort of SpA multiplex families revealed that the different articular and extra-articular inflammatory manifestations comprising the SpA spectrum were linked together, implying that they were determined by a shared set of factors, including HLA-B27. The variety of phenotypes appeared to be related to ubiquitous and secondary factors. Hence, SpA appeared to be more homogenous than previously thought and should be regarded as a unique disease. This conclusion also implies that genetic studies should be performed on the whole group. Such an approach allowed identification of HLA-DR4 as a gene contributing to SpA predisposition independently of linkage disequilibrium with HLA-B27. A significant role for CARD15/NOD2 gene in predisposition to SpA was ruled out, in agreement with the hypothesis that the inflammatory bowel disease in SpA is determined by factors different than those responsible for isolated Crohn's disease.
脊柱关节炎（SpA）的易感性很大程度上由遗传因素决定，包括HLA - B27以及其他可能通过定位克隆方法追踪的未知基因。对一大群SpA多发家系进行的分析表明，构成SpA谱系的不同关节和关节外炎症表现相互关联，这意味着它们由包括HLA - B27在内的一组共同因素决定。各种表型似乎与普遍存在的次要因素有关。因此，SpA似乎比以前认为的更具同质性，应被视为一种独特的疾病。这一结论还意味着应该对整个群体进行基因研究。这种方法使得能够鉴定出HLA - DR4作为一种独立于与HLA - B27连锁不平衡而导致SpA易感性的基因。与SpA中炎症性肠病由不同于孤立性克罗恩病的因素决定这一假设一致，CARD15/NOD2基因在SpA易感性中的重要作用被排除。
