Vogt-Koyanagi-Harada综合征与人类白细胞抗原-DQA1和-DQB1基因相关性研究

Associatin of HLADQA1 and DQB1 alleles with VogtKoyanagiHarada syndrome in Han Chinese population

目的探讨人类白细胞抗原ＤＱＡ１和ＤＱＢ１（ｈｕｍａｎｌｅｕｋｏｃｙｔｅａｎｔｉｇｅｎＤＱＡ１ａｎｄＤＱＢ１，ＨＬＡＤＱＡ１ａｎｄＤＱＢ１）基因与沃格特小柳原田综合征（ＶｏｇｔＫｏｙａｎａｇｉＨａｒａｄａｓｙｎｄｒｏｍｅ，ＶＫＨ）遗传易感的相关性。方法应用聚合酶链式反应———序列特异性引物（ｐｏｌｙｍｅｒａｓｅｃｈａｉｎｒｅａｃｔｉｏｎｓｅｑｕｅｎｃｅｓｐｅｃｉｆｉｃｐｒｉｍｅｒ，ＰＣＲＳＳＰ）及聚合酶链式反应———限制性片段长度多态性（ＰＣＲｒｅｓｔｒｉｃｔｉｏｎｆｒａｇｍｅｎｔｌｅｎｇｔｈｐｏｌｙｍｏｒｐｈｉｓｍ，ＰＣＲＲＦＬＰ）方法，检测７０例汉族ＶＫＨ患者及５０例正常对照者的ＨＬＡＤＱＡ１及ＤＱＢ１等位基因型别。结果ＶＫＨ组，ＤＱＡ１０３０１及ＤＱＢ１０４０１等位基因的频率明显高于正常人（Ｐｃ＜１０７），相对危险性（ＲＲ）分别为１６．４７及８８．００；其两组单倍型ＤＱＡ１０３０１ＤＱＢ１０４０１的频率差异有非常显著性（７８．６％，４．０％；Ｐｃ＜１０７，ＲＲ＝８８００）；在１５例ＤＱＡ１０３０１ＤＱＢ１０４０１单倍型为阴性的ＶＫＨ患者中，ＤＱＡ１０１０?

Objective To access the association of HLADQA1 and DQB1 alleles with VogtKoyanagiHarada syndrome (VKH). Methods The alleles in DQA1 and DQB1 loci of patients with VKH matched with 50 healthy controls were subtyped by polymerase chain reactionsequence specific primer (PCRSSP) and PCRrestriction fragment length polymorphism (PCRRFLP). Results DQA1*0301 and DQB1*0401 alleles were in close association with VKH sundrome, as compared to the controls (Pc<107), with the relative risk (RR) 16.47 and 88.00, respectively. The frequency of DQA1*0301DQB1*0401 haplotype in patients with VKH was also significantly higher than that in healthy controls (78.6%, 4.0%, Pc<107, RR=88.00). Among the 15 patients who were negative for the haplotype of DQA1*0301DQB1*0401, 7 of them were found to be positive for DRB1*15DQA1*0102DQB1*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*0103DQB1*0601 was the only one of the DQA1DQB1 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. Conclusions The results suggest that DQA1*0301DQB1*0401 and DRB1*15DQA1*0102DQB1*0602/3 be associated with the susceptibility in VKH. On the other hand, DQA1*0103DQB1*0601 may play a role in resisting against VKH syndrome.