强直性脊柱炎易感基因的研究进展

Progress on Genetic Susceptibility to Ankylosing Spondylitis

强直性脊柱炎(ankylosing spondylitis,AS)是一种常见的高度遗传的风湿类疾病。至20世纪70年代以来,越来越多的证据表明HLA-B27是AS最主要的易感基因。然而,全基因组扫描和关联分析等研究发现在HLA以外的区域仍存在AS的易感区域,大量的证据显示在HLA区内外有许多基因与AS的发病有关。文章主要综述了与AS相关的易感基因以及它们的研究现状。

Ankylosing spondylitis （AS） is a highly heritable, common inflammatory rheumatic disease. Since 1970s, evidence has increasingly pointed to HLA-B27 as the major gene involved in susceptibility to AS. However, genome-wide scan and association studies have shown, in addition to HLA, regions outside the HLA are involved in susceptibility to AS. Furthermore, there is compelling evidence that non-B27 genes, either within or outside the HLA, are involved in disease aetiology. This review mainly summarized different genes associated with AS, and the current progress in this exciting area.