Association With HLA-DR, -DQ Genes And Clinical Analysis In Patients With Vogt-Koyanagi-Harada Syndrome

Vogt-Koyanagi-Harada syndrome (VKH) represents a spectrum of bilateral granulomatous panuveitis associated with central nervous system and dermatologic manifestations. The close association with the particular HLA class II gene HLA-DRB1*0405 has been observed both in Japan and in China. However, no study on HLA-DQA1 and -DQB1 DNA typing in Chinese patients with VKH has been reported. To demonstrate the immunogenetic background of VKH syndrome in northern Chinese, the alleles at the DRB, DQA1 and DQB1 loci were investigated by PCR-SSP and PCR-RFLP in the Hans, 70 patients with VKH matched with 50 healthy controls as well as a family of a patient with VKH. A retrospectively study on the clinical characteristic of 122 patients with VKH syndrome was also analyzed.It was found that DRB1*0405, DQA1*0301 and DQB1*0401 alleles were in closeassociation with VKH syndrome, as compared to the healthy controls (P_c<10^-7), with therelative risks (RR) of 88.00, 16.47, 88.00 respectively. These alleles are in strong linkagedisequilibrium and the frequency of DRB1*0405-DQA1*0301-DQB1 *0401 haplotype inpatients with VKH was significantly higher than that in healthy controls (78.6% vs. 4.0%,Pc<10^-7, RR=88.0), Among the 15 patients negative for the haplotype of DRB1*0405-DQAl*0301 -DQBl*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 inhealthy controls (46.7% vs 12.5%, P_c=0.008, RR=6.27). However, DQA1*0103-DQB1*0601 was the only one of the DQA1-DQB1 haplotypes with a significantly lowerfrequency in patients with VKH in comparison with that in the healthy controls (2.9% vs24%, P_c =0.001, RR=0.09). These results suggest that DRB1*0405-DQA1*0301-DQB1*0401 was the major haplotype associated with susceptibility in VKH, whileDRB1*15-DQA1*0102-DQB1*0602/3 haplotype was the minor haplotype related to the...