Liu Q, Zhang M, Qiu C, Hu T
Department of Ophthalmology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730.
Zhonghua Yan Ke Za Zhi. 1999 May;35(3):210-5.
To access the association of HLA-DQA1 and -DQB1 alleles with Vogt-Koyanagi-Harada syndrome (VKH).
The alleles in DQA1 and DQB1 loci of patients with VKH matched with 50 healthy controls were subtyped by polymerase chain reaction-sequence specific primer (PCR-SSP) and PCR-restriction fragment length polymorphism (PCR-RFLP).
DQA1 * 0301 and DQB1 * 0401 alleles were in close association with VKH syndrome, as compared to the controls (Pc < 10(-7)), with the relative risk (RR) 16.47 and 88.00, respectively. The frequency of DQA1 * 0301-DQB1 * 0401 haplotype in patients with VKH was also significantly higher than that in healthy controls (78.6%, 4.0%, Pc < 10(-7), RR = 88.00). Among the 15 patients who were negative for the haplotype of DQA1 * 0301-DQB1 * 0401, 7 of them were found to be positive for DRB1 * 15-DQA1 * 0102-DQB1 * 0602/3 haplotype, with the frequency significantly higher than that in the controls (46.7%, 12.5%, Pc = 0.01, RR = 6.13). However, DQA1 * 0103-DQB1 * 0601 was the only one of the DQA1-DQB1 haplotypes with a significantly lower frequency in patients with VKH in comparison with that in the controls (2.9%, 24%, Pc = 0.001, RR = 0.09). The susceptible haplotype was not related to the clinical features.
The results suggest that DQA1 * 0301-DQB1 * 0401 and DRB1 * 15-DQA1 * 0102-DQB1 * 0602/3 be associated with the susceptibility in VKH. On the other hand, DQA1 * 0103-DQB1 * 0601 may play a role in resisting against VKH syndrome.
探讨HLA - DQA1和 - DQB1等位基因与Vogt - 小柳 - 原田综合征（VKH）的相关性。
采用聚合酶链反应 - 序列特异性引物（PCR - SSP）和PCR - 限制性片段长度多态性（PCR - RFLP）技术对50例VKH患者及与之匹配的健康对照者的DQA1和DQB1基因座等位基因进行分型。
与对照组相比，DQA1 * 0301和DQB1 * 0401等位基因与VKH综合征密切相关（Pc < 10⁻⁷），相对危险度（RR）分别为16.47和88.00。VKH患者中DQA1 * 0301 - DQB1 * 0401单倍型频率也显著高于健康对照组（78.6%，4.0%，Pc < 10⁻⁷，RR = 88.00）。在15例DQA1 * 0301 - DQB1 * 0401单倍型阴性的患者中，发现7例DRB1 * 15 - DQA1 * 010l2 - DQB1 * 0602/3单倍型阳性，其频率显著高于对照组（46.7%，12.5%，Pc = 0.01，RR = 6.13）。然而，DQA1 * 0103 - DQB1 * 0601是DQA1 - DQB1单倍型中唯一在VKH患者中频率显著低于对照组的单倍型（2.9%，24%，Pc = 0.001，RR = 0.09）。易感单倍型与临床特征无关。
结果提示DQA1 * 0301 - DQB1 * 0401和DRB1 * 15 - DQA1 * 0102 - DQB1 * 0602/3与VKH的易感性相关。另一方面，DQA1 * 0103 - DQB1 * 0601可能在抵抗VKH综合征中起作用。
