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中国汉族人群中HLA-DRB1基因与大动脉炎易感性的关联

Association of the HLA-DRB1 gene with susceptibility to aortoarteritis in a Chinese Han population.

作者信息

Dang Aimin, Wang Bing, Zhang Yuhui, Zhang Penghua, Huang Jianfeng, Liu Guozhang, Zheng Deyu, Qiu Changchun, Liu Lisheng

机构信息

Division of Hypertension, Cardiovascular Institute and Fu Wai Hospital, Peking Union Medical College and Chinese Academy of Medical Science, Beijing, PR China.

出版信息

Hypertens Res. 2002 Jul;25(4):631-4. doi: 10.1291/hypres.25.631.

DOI:10.1291/hypres.25.631
PMID:12358152
Abstract

Aortoarteritis is a chronic inflammatory disease mainly affecting the aorta and its major branches. Recent immunogenetic studies indicate that certain human leucocyte antigen (HLA) alleles are significantly associated with aortoarteritis in several populations. The purpose of the present study was to investigate the relationship between the HLA-DRB1 alleles and aortoarteritis in a Chinese Han population. HLA-DRB1 genotypes were identified by PCR-SSP and PCR-RFLP in 84 Chinese patients with aortoarteritis and 102 healthy Chinese controls. It was found that the HLA-DRB104 allele (38.1% in patients vs. 15.7% in controls, p<0.001, relative risk (RR)=2.43) and the HLA-DRB107 allele (47.6% vs. 10.8%, p<0.001, RR = 4.42) were significantly associated with aortoarteritis. Furthermore, there was no significant difference in the frequency of the DRB10405 subtype between the patient and control groups. Thus the susceptibility to aortoarteritis in this Chinese Han population was closely related with the HLA-DRB104 and DRB107 alleles. Thus individuals with the HLA-DRB104 and DRB1*07 alleles may be at higher risk for developing aortoarteritis.

摘要

大动脉炎是一种主要影响主动脉及其主要分支的慢性炎症性疾病。最近的免疫遗传学研究表明,某些人类白细胞抗原(HLA)等位基因在多个人群中与大动脉炎显著相关。本研究的目的是调查中国汉族人群中HLA-DRB1等位基因与大动脉炎之间的关系。采用聚合酶链反应-序列特异性引物(PCR-SSP)和聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法,对84例中国大动脉炎患者和102例健康中国对照者进行HLA-DRB1基因分型。结果发现,HLA-DRB104等位基因(患者中为38.1%,对照组中为15.7%,p<0.001,相对危险度(RR)=2.43)和HLA-DRB107等位基因(47.6%对10.8%,p<0.001,RR = 4.42)与大动脉炎显著相关。此外,患者组和对照组之间DRB10405亚型的频率没有显著差异。因此,中国汉族人群中对大动脉炎的易感性与HLA-DRB104和DRB107等位基因密切相关。因此,携带HLA-DRB104和DRB1*07等位基因的个体患大动脉炎的风险可能更高。

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