title: Association of the CTLA-4 gene with Vogt-Koyanagi-Harada syndrome.
abstract: 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.
authors.affiliation: State Key Laboratory of Ophthalmology, Sun Yat-Sen University, Guangzhou, PR China.
authors.forename: Liping
authors.initials: L
authors.lastname: Du
authors.forename: Peizeng
authors.initials: P
authors.lastname: Yang
authors.forename: Shengping
authors.initials: S
authors.lastname: Hou
authors.forename: Xiaomin
authors.initials: X
authors.lastname: Lin
authors.forename: Hongyan
authors.initials: H
authors.lastname: Zhou
authors.forename: Xiangkun
authors.initials: X
authors.lastname: Huang
authors.forename: Li
authors.initials: L
authors.lastname: Wang
authors.forename: Aize
authors.initials: A
authors.lastname: Kijlstra
mesh_terms: D015703:Antigens, CD / Q000235:genetics*; D000943:Antigens, Differentiation / Q000235:genetics*; D044466:Asian People; D060908:CTLA-4 Antigen; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D020641:Polymorphism, Single Nucleotide; D014607:Uveomeningoencephalitic Syndrome / Q000235:genetics*
chemical_list: D015703:Antigens, CD; D000943:Antigens, Differentiation; D060908:CTLA-4 Antigen; C556706:CTLA4 protein, human