Dababneh A, Gonzalez-Gay M A, Garcia-Porrua C, Hajeer A, Thomson W, Ollier W
ARC Epidemiology Research Unit, Manchester University Medical School.
J Rheumatol. 1998 Nov;25(11):2140-5.
To determine whether patients with polymyalgia rheumatica (PMR) and giant cell arteritis (GCA) exhibit identical HLA class II associations.
A case-control association study was performed on a population sample from Lugo, in Northwestern Spain. DNA samples were available for 128 patients and 145 ethnically matched controls. Within the patient group 26 exhibited both PMR and GCA, 75 PMR alone, and 27 GCA alone. HLA-DRB1, DQA1, and DQB1 phenotypes were defined by molecular based techniques.
HLA-DRB 10401 was associated with GCA regardless of PMR status, although this only reached statistical significance in the total GCA group. This was also seen for DRB 10101, 0102, although the association was less strong. Patients with PMR without GCA were not associated with DRB10401 or *0101, 0102, but exhibited a significant association with DRB113, *14. Nonsignificant increases in DQA1 and DQB1 phenotype frequencies appeared to reflect known patterns of linkage disequilibrium with the HLA-DRB1 alleles associated with GCA and PMR groups. An association was observed between the presence of the RA DRB1 shared epitope (SE) and GCA but not with PMR in the absence of GCA. This association was primarily accounted for by the presence of a single copy of the SE, and homozygosity for the SE did not confer additional risk. A high frequency of SE-bearing DRB1 alleles was observed in patients with GCA with jaw claudication or visual manifestations, although the sample size of these subgroups was small.
PMR and GCA in a Northwestern Spanish population have distinct HLA class II associations. HLA is unlikely to account for the observed high level of overlap in these patients, and other etiological factors may be involved.
确定风湿性多肌痛（PMR）和巨细胞动脉炎（GCA）患者是否表现出相同的人类白细胞抗原（HLA）Ⅱ类关联。
对来自西班牙西北部卢戈的人群样本进行病例对照关联研究。有128例患者和145例种族匹配对照的DNA样本。在患者组中，26例同时患有PMR和GCA，75例仅患有PMR，27例仅患有GCA。通过基于分子的技术定义HLA - DRB1、DQA1和DQB1表型。
HLA - DRB10401与GCA相关，无论PMR状态如何，尽管这仅在总GCA组中达到统计学显著性。DRB10101、0102也有此现象，尽管关联较弱。无GCA的PMR患者与DRB10401或*0101、0102无关联，但与DRB113、*14有显著关联。DQA1和DQB1表型频率的非显著性增加似乎反映了与GCA和PMR组相关的HLA - DRB1等位基因的已知连锁不平衡模式。在无GCA的情况下，类风湿关节炎（RA）DRB1共享表位（SE）的存在与GCA相关，但与PMR无关。这种关联主要由SE的单拷贝存在引起，SE的纯合性并未带来额外风险。在有颌部跛行或视觉表现的GCA患者中观察到携带SE的DRB1等位基因频率较高，尽管这些亚组的样本量较小。
西班牙西北部人群中的PMR和GCA具有不同的HLAⅡ类关联。HLA不太可能解释这些患者中观察到的高水平重叠，可能涉及其他病因因素。
