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

Clin Immunol. 2008 Apr;127(1):43-8. doi: 10.1016/j.clim.2008.01.004. Epub 2008 Feb 20.


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 polymorphisms (- 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 G allele 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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Antigens, CD / genetics*
  • Antigens, Differentiation / genetics*
  • Asians
  • CTLA-4 Antigen
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease*
  • Haplotypes
  • Humans
  • Linkage Disequilibrium
  • Male
  • Polymorphism, Single Nucleotide
  • Uveomeningoencephalitic Syndrome / genetics*


  • Antigens, CD
  • Antigens, Differentiation
  • CTLA-4 Antigen
  • CTLA4 protein, human