Reveille John D
Division of Rheumatology and Clinical Immunogenetics, The University of Texas Health Science Center at Houston, 6431 Fannin, MSB 5.270, Houston, TX 77030, USA.
Curr Rheumatol Rep. 2009 Oct;11(5):340-8. doi: 10.1007/s11926-009-0049-6.
Recent studies published on the genetic basis of ankylosing spondylitis (AS) reflect novel areas of investigation and extension of recent advances. As HLA-B27 subtypes have been extensively examined in other ethnic groups, novel insights into the relevance of HLA-B27 folding to disease susceptibility have led to questions regarding the influence of HLA-B27 on AS pathogenesis. The recent identification of IL23R, ERAP1, and interleukin-1 (IL1A) region genes in AS pathogenesis has led to a number of replication studies. Other genes with inconsistent AS associations (eg, KIR, TLR4, ANKH, and TNAP) have been further examined with inconsistent results. Potential candidate genes (TIRAP, COL1A6, and MEFV) have been examined with no associations found. Tremendous progress has been made with respect to understanding the genetic basis of AS. The identification of new genes-ARTS1, IL23R, and IL1A-substantiate that susceptibility to AS is also determined by genes outside the MHC.
近期发表的关于强直性脊柱炎（AS）遗传基础的研究反映了新的研究领域以及近期进展的拓展。由于HLA - B27亚型已在其他种族群体中得到广泛研究，对HLA - B27折叠与疾病易感性相关性的新见解引发了关于HLA - B27对AS发病机制影响的疑问。近期在AS发病机制中对IL23R、ERAP1和白细胞介素 - 1（IL1A）区域基因的鉴定引发了多项重复研究。其他与AS关联不一致的基因（如KIR、TLR4、ANKH和TNAP）也得到了进一步研究，但结果不一致。对潜在候选基因（TIRAP、COL1A6和MEFV）进行了检测，未发现关联。在理解AS的遗传基础方面已经取得了巨大进展。新基因ARTS1、IL23R和IL1A的鉴定证实，AS易感性也由MHC以外的基因决定。
