Brionez Tamar F, Reveille John D
Division of Rheumatology and Clinical Immunogenetics, The University of Texas Health Science Center at Houston, Houston, Texas 77030, USA.
Curr Opin Rheumatol. 2008 Jul;20(4):384-91. doi: 10.1097/BOR.0b013e32830460fe.
Recent data have presented several new nonmajor histocompatibility complex genes in predisposition to ankylosing spondylitis, which will be summarized here.
A retrospective meta-analysis of three previous whole genome linkage scans confirmed a strong linkage at chromosome 16q and moderate linkage at sites on chromosomes 3, 10, and 19q, and a meta-analysis of studies of the interleukin-1 (IL-1) region genes in ankylosing spondylitis suggested the susceptibility to be conferred by the IL-1A gene. More recently, the use of genotyping chips, derived from the International Hapmap resource, which provides an extensive genomic coverage of large disease cohorts, have made it possible to conduct successful genome-wide association studies. One such study has led to the identification and validation of two new genes, IL23R and ARTS1, in ankylosing spondylitis pathogenesis.
A tremendous amount of progress has been made with respect to understanding the genetic basis of ankylosing spondylitis. The recent identification of two new genes, ARTS1 and IL23R, and confirmation of IL-1A association further substantiate that ankylosing spondylitis is determined to a large extent by genes outside the major histocompatibility complex.
近期数据显示了几个与强直性脊柱炎易感性相关的新的非主要组织相容性复合体基因，本文将对其进行总结。
对之前三项全基因组连锁扫描的回顾性荟萃分析证实，16号染色体存在强连锁，3号、10号和19号染色体位点存在中度连锁，对强直性脊柱炎白细胞介素-1（IL-1）区域基因研究的荟萃分析表明，IL-1A基因赋予了易感性。最近，利用源自国际人类基因组单体型图资源的基因分型芯片，其为大型疾病队列提供了广泛的基因组覆盖，使得成功开展全基因组关联研究成为可能。一项此类研究已在强直性脊柱炎发病机制中鉴定并验证了两个新基因，即IL23R和ARTS1。
在理解强直性脊柱炎的遗传基础方面已取得了巨大进展。最近鉴定出的两个新基因ARTS1和IL23R，以及IL-1A关联性的证实，进一步证实强直性脊柱炎在很大程度上由主要组织相容性复合体外的基因决定。
