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HLA-DRB1基因变异对小柳原田病临床病程的影响。

Influence of HLA-DRB1 gene variation on the clinical course of Vogt-Koyanagi-Harada disease.

作者信息

Islam S M, Numaga J, Matsuki K, Fujino Y, Maeda H, Masuda K

机构信息

Department of Ophthalmology, University of Tokyo School of Medicine, Japan.

出版信息

Invest Ophthalmol Vis Sci. 1994 Feb;35(2):752-6.

PMID:7906684
Abstract

PURPOSE

To investigate the difference, if any, in the immunogenetic backgrounds between two clinical subtypes of Vogt-Koyanagi-Harada disease (VKH).

METHODS

HLA-DR4 gene variations were investigated in 46 Japanese patients, 28 with the prolonged type and 18 with the nonprolonged type of VKH. HLA-DR4 genes were amplified with polymerase chain reaction (PCR) and then analyzed for its variation with single-strand conformation polymorphism (SSCP) and restriction fragment length polymorphism (RFLP) methods.

RESULTS

Significant differences were found in the DR4 gene variation in the two clinical subtypes. All the patients with the prolonged type had either the DRB10405 or DRB10410 variant, whereas 39% of the patients with the nonprolonged type had neither of them. This difference in frequency was statistically highly significant (P = 0.00059, Pc = 0.0041). DRB10405 was also more frequent in the prolonged type (93%) than in the nonprolonged type (56%) (P = 0.0044, Pc " 0.030). In the prolonged type, relative risk was highest for DRB10405/0410 (128), whereas in the nonprolonged type it was highest for DR4 (8.6).

CONCLUSION

This preliminary study showed that DR4 gene variants differed significantly between the two subtypes of VKH, suggesting that the clinical course of VKH is determined partly by the patient's HLA-DR gene variation.

摘要

目的

研究交感性眼炎(VKH)两种临床亚型之间免疫遗传背景的差异(若存在差异)。

方法

对46例日本患者进行HLA - DR4基因变异研究,其中28例为VKH迁延型,18例为非迁延型。采用聚合酶链反应(PCR)扩增HLA - DR4基因,然后用单链构象多态性(SSCP)和限制性片段长度多态性(RFLP)方法分析其变异情况。

结果

在两种临床亚型的DR4基因变异中发现了显著差异。所有迁延型患者均有DRB10405或DRB10410变异,而非迁延型患者中有39%既无上述变异。这种频率差异在统计学上具有高度显著性(P = 0.00059,Pc = 0.0041)。DRB10405在迁延型中的频率(93%)也高于非迁延型(56%)(P = 0.0044,Pc = 0.030)。在迁延型中,DRB10405/0410的相对风险最高(128),而在非迁延型中DR4的相对风险最高(8.6)。

结论

这项初步研究表明,VKH的两种亚型之间DR4基因变异存在显著差异,提示VKH的临床病程部分由患者的HLA - DR基因变异决定。

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