《生命科学》 2015, 27(7): 898-902

ERAP1与强直性脊柱炎关系研究进展

王冠明1*，游玉权2，谢永华1，陈淑增1，林成凤2

(1 泉州医学高等专科学校基础医学部，泉州 362100；2 泉州正骨医院，泉州 362000)

摘　要：摘　要：HLA-B27 作为强直性脊柱炎(ankylosing spondylitis， AS) 的一个遗传学标志和致病因子为人们所熟知，但随着基因检测技术的发展，更多与AS 相关的基因被发现，包括ERAP1。ERAP1 的主要功能是剪切合适长度的抗原肽，以便MHC-I 类分子提呈，功能异常的ERAP1 与AS 发病相关。在此过程中，ERAP1与HLA-B27 密切配合。ERAP1 分子多态性产生异常抗原肽提呈谱和HLA-B27 分子表达，并通过固有免疫和适应性免疫机制介导AS 发病。现围绕ERAP1 基因与AS 的关系、ERAP1 基因单核苷酸多态性与其功能改变以及ERAP1 参与AS 的免疫机制作一综述。

Research progress in the relation between ERAP1 and ankylosing spondylitis

WANG Guan-Ming1*， YOU Yu-Quan2， XIE Yong-Hua1， CHEN Shu-Zeng1， LIN Cheng-Feng2

(1 School of Preclinical Medicine， Quanzhou Medical College， Quanzhou 362100， China; 2 Quanzhou Orthopedics Hospital， Quanzhou 362000， China)

Abstract: Abstract: It is well known that HLA-B27 is a hereditary marker and susceptibility factor in ankylosing spondylitis (AS). However， further AS-associated genes including ERAP1 were identified with the development of gene detection techniques. The main function of ERAP1 is trimming peptides to optimal length for MHC-I presentation and ERAP1 dysfunction is involved in the pathological mechanism of AS. ERAP1 functions in close concert with HLA-B27 molecules in AS pathogenesis. ERAP1 polymorphisms result in an abnormal peptide-presenting repertoire and HLA-B27 expression， which contribute to AS development by innate and adaptive immune responses. This review focuses on the association of ERAP1 with AS at the gene level， the SNP-dependent alteration in the function of ERAP1 as well as the immunologic mechanism for ERAP1 in AS susceptibility.