青少年强直性脊柱炎与HLA - DRB108、HLA - DPB10301的关联以及HLA连锁蛋白酶体基因的纯合性

Association to HLA-DRB108, HLA-DPB10301 and homozygosity for an HLA-linked proteasome gene in juvenile ankylosing spondylitis.

作者信息

Ploski R, Flatø B, Vinje O, Maksymowych W, Førre O, Thorsby E

机构信息

Institute of Transplantation Immunology, National Hospital, Oslo, Norway.

出版信息

Hum Immunol. 1995 Oct;44(2):88-96. doi: 10.1016/0198-8859(95)00063-a.

DOI:10.1016/0198-8859(95)00063-a

PMID:8847233

Abstract

To assess the role of HLA genes other than those encoding B27 in predisposing to JAS and AAS, we analyzed the distribution of B4001, as well as the DRB1, DPB1, and LMP2 alleles, using PCR-based techniques in 63 JAS and 44 AAS patients (all B27 positive). The NBMDR (N = 4724) provided a source of controls matched with the patients for B27 (or other markers when necessary). We found an increase of the B4001, DRB108, and DPB10301 alleles, as well as the LMP2 b/b genotype (the latter was most pronounced among patients with acute iridocyclitis), in JAS compared to B27-positive controls. The increase of DRB108 and DPB10301 was due to an increase of DRB108 and DPB10301 in combination, whereas the association with B4001 could be due to linkage disequilibrium with LMP2b. None of these associations were detected in AAS. We conclude that in JAS, in addition to the association to B27, there are also weaker but distinct associations to the DRB108, DPB1*0301 alleles and homozygosity for LMP2b.

摘要

为了评估编码B27以外的HLA基因在青少年强直性脊柱炎（JAS）和成人强直性脊柱炎（AAS）易感性中的作用，我们采用基于聚合酶链反应（PCR）的技术，分析了63例JAS患者和44例AAS患者（均为B27阳性）中B4001以及DRB1、DPB1和LMP2等位基因的分布情况。国家骨髓捐赠登记处（NBMDR，N = 4724）提供了与患者B27相匹配（必要时为其他标志物相匹配）的对照样本。我们发现，与B27阳性对照相比，JAS患者中B4001、DRB108和DPB10301等位基因以及LMP2 b/b基因型（后者在急性虹膜睫状体炎患者中最为明显）有所增加。DRB108和DPB10301的增加是由于DRB108和DPB10301联合增加所致，而与B4001的关联可能是由于与LMP2b的连锁不平衡。在AAS患者中未检测到这些关联。我们得出结论，在JAS中，除了与B27的关联外，还存在与DRB108、DPB1*0301等位基因以及LMP2b纯合性较弱但明显的关联。