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[采用PCR-SSOP-荧光微球技术对日本白塞病(BD)患者进行HLA-A和HLA-B基因的四位数等位基因基因分型,并根据BD的各主要症状进行分层分析]

[Four-digit allele genotyping of HLA-A and HLA-B genes in Japanese patients with Behçet's disease (BD) by a PCR-SSOP-luminex method and stratification analysis according to each major symptom of BD].

作者信息

Kamiishi Tomoko, Itoh Yoshiki, Meguro Akira, Nishida Tomomi, Sasaki Sayaka, Nanba Kenichi, Ohno Shigeaki, Inoko Hidetoshi, Mizuki Nobuhisa

机构信息

Department of Ophthalmology and Visual Science, Yokohama City University Graduate School of Medicine, Japan.

出版信息

Nippon Ganka Gakkai Zasshi. 2008 May;112(5):451-8.

Abstract

PURPOSE

High resolution (four-digit) allele genotyping was used to determine the association of the HLA-A and -B alleles with Behçet's disease (BD) in Japanese patients. We also analyzed our results for the association of these alleles with the individual clinical features of BD.

SUBJECTS AND METHODS

We enrolled 389 Japanese BD patients and 254 healthy controls in this study. Genotyping of the HLA-A, -B alleles was performed by the PCR-SSOP-Luminex method and the phenotype frequencies of the HLA-A, and -B alleles were estimated.

RESULTS

Some HLA-A and -B alleles were significantly associated with BD. When we recalculated the phenotype frequencies for the HLA-B51-negative subjects to exclude the effects of the linkage disequilibrium with the HLA-B51 allele, HLA-A2601 was most strongly associated with BD. In addition, we observed a significant association between several clinical features and some alleles, including HLA-A2602.

CONCLUSION

The significant increase of HLA-A* 26 in the BD patients without HLA-B51 suggests that this allele itself might be one of the primary susceptibility genes involved in the development of BD independently of HLA-B51.

摘要

目的

采用高分辨率(四位数)等位基因基因分型法确定日本患者中HLA - A和 - B等位基因与白塞病(BD)的关联。我们还分析了这些等位基因与BD个体临床特征的关联结果。

对象与方法

本研究纳入了389例日本BD患者和254例健康对照。采用PCR - SSOP - Luminex方法对HLA - A、 - B等位基因进行基因分型,并估计HLA - A和 - B等位基因的表型频率。

结果

一些HLA - A和 - B等位基因与BD显著相关。当我们重新计算HLA - B51阴性受试者的表型频率以排除与HLA - B51等位基因连锁不平衡的影响时,HLA - A2601与BD的相关性最强。此外,我们观察到一些临床特征与某些等位基因之间存在显著关联,包括HLA - A2602。

结论

在无HLA - B51的BD患者中HLA - A26显著增加,这表明该等位基因本身可能是独立于HLA - B*51参与BD发病的主要易感基因之一。

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