幼年特发性关节炎与HLA基因相关性研究进展

Advances of human leukocyte antigen in juvenile idiopathic arthritis

幼年特发性关节炎(JIA)是儿童常见的慢性关节病,在其发生过程中有免疫遗传因素的参与和影响。在JIA与不同基因相关性研究中,与编码人类白细胞抗原(HLA)的基因相关性已被证实。文章对存在于JIA复杂性状后的基因原理进行讨论,并综合性地列出与JIA密切相关的HLA的后选基因和对一些效的关联性进行回顾。研究发现HLA-I、Ⅱ分子及其产物在JIA的发病、临床过程、激素疗效、预后判断中有着重要作用。不同人种的研究表明,HLA与JIA基因的相关性主要集中在A、DR、DQ位点,尤其是Ⅱ类基因及一些单元型。JIA分型不同,与其相关的HLA易感位点常常也会不同。同样不同的人种、地区和社会环境也影响着JIA的易感基因多态性,文章最后就目前对HLA易感性和JIA多态性关系的研究过程中存在的问题作出小结。

Juvenile idiopathic arthritis（JIA） is the most common chronic arthropathy in childhood.Immune and genetic factors take part in the development of JIA and influence its consequence.Studies have identified association between JIA and genes encoding the human leukocyte antigens（HLA）.In this article we discuss the principles behind genetic studies of complex traits like JIA,and comprehensively catalog HLA candidate gene associated with JIA to date,and review several validated associations.Studies indicate that the HLA-Ⅰ,Ⅱgene and their products play an important role in JIA pathogenesis,clinical course,hormonal effect and prognostic judgment.Studies in different ethnic groups indicate the main relationship between JIA and HLA is concentrated upon A,DR and DQ loci,especially the HLA-Ⅱgene and some haplotypes.The different type of JIA is always with different HLA susceptible locus and protective locus.Different race,different region and different social environment also affect the JIA＇s susceptible gene polymorphism.Finally we discuss the problems existed in the study of JIA susceptibility and HLA polymorphism.