Objective: To investigate the association of HLA-DR4 subtypes with Vogt-Koyanagi-Harada (VKH) syndrome and to clarify immune genetic mechanism underlying the susceptibility/resistance to VKH syndrome.
Methods: HLA-DR4 alleles of 54 patients with VKH and 106 healthy controls were amplified and subtyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP).
Results: A selective amplification of the DR4 alleles of 263 bp was higher in patients with VKH than in the controls. The frequency of DR4-DRB1 alleles was 70% (38/54) in VKH group and was 19% (20/106) in the control group, relative rish (RR) = 10.21, P < 0.005. The genotyping of DR4 alleles showed that DRB1 * 0405 was more frequent in VKH group (35/38, 92%) than in the control group [6/20, 30%, RR = 27.2, P = 0.0,000,017, corrected pvalue (Pc) = 0.0,000,103].
Conclusions: It is suggested that DRB1 * 0405 be a susceptible subtype to VKH and the specific amino acid residue Ser (serine) at position 57 play an important role in the development of VKH syndrome. The molecular biological technique we used may be useful in studying the immunogenetic mechanism of VKH.