Association of the CTLA-4 gene with Vogt-Koyanagi-Harada syndrome

Cytotoxic T lymphocyte-associated antigen-4 (CTLA-4), a critical negative regulator of the T cell response, has been shown to be associated with a variety of autoimmune diseases. In this study, we investigated the association of CTLA-4 gene potymorphisms (- 1661A/G; - 318C/T, + 49G/A, and CT60) with Vogt-Koyanagi-Harada (VKH) syndrome in Chinese Han patients and normal controls. The results showed that the frequency of the Gallele at the + 49 site was significantly higher in VKH patients than that observed in healthy controls (71.6% versus 62.8%, P = 0.0046, Pc = 0.037). Three haplotypes were identified from the four SNPs. The frequency of haplotype - 1661A:- 318C:+ 49G: CT60G, the most prevalent haplotype both in patients and controls, was significantly higher in patients than that in controls (70.1% versus 60.0%, P= 0.0013, n= 16, Pc = 0.021). These results suggest that CTLA-4 genetic polymorphisms are associated with the susceptibility to VKH syndrome. (C) 2008 Elsevier Inc. All rights reserved.