Objective: Cytotoxic T lymphocyte antigen-4 (CTLA-4) plays a role in the downregulation of T cell activation. The present study aimed to examine an association between the CTLA-4 gene polymorphisms and ulcerative colitis (UC) in the Han Chinese in central China.

Methods: One hundred seventeen patients with UC and 246 healthy controls were genotyped for CTLA-4 gene -658CT in the promoter and CT61 at the 3' untranslated region using a method of polymerase chain reaction-based restriction fragment length polymorphism and single-strand conformation polymorphism, respectively. The distributions of the genotypes and the allele frequencies of the CTLA-4 gene in UC patients and healthy controls were compared by chi-square test.

Results: The frequency of the T/T+C/T genotype at the CTLA-4 gene -658CT in the promoter was significantly higher in UC patients than in healthy controls (26.5% vs 15.4%, chi (2) = 6.287, P = 0.015, OR = 1.973, 95%CI = 1.153-3.375). The frequency of the T allele at the CTLA-4 -658CT was also significantly higher in UC patients than in the controls (13.2% vs 8.1%, chi (2) = 4.707, P = 0.033, OR = 1.726, 95%CI = 1.049-2.838). The frequency of the T/T genotype at the -658 locus was highly associated with extensive colitis in UC patients (P = 0.037, OR = 3.955, 95%CI = 1.068-14.647). The frequency of the T allele at the -658 locus was highly associated with extensive colitis in UC patients (P = 0.0067, OR = 3.05, 95%CI = 1.320-7.048).

Conclusions: The T allele of CTLA-4 -658 polymorphism in the promoter of CTLA-4 gene was highly associated with UC in the Han Chinese in central China.