Background: Cytotoxic T lymphocyte-associated antigen 4 (CTLA-4) is a key negative regulator of T lymphocytes and has been shown to be associated with a number of autoimmune diseases. The present study was performed to assess the association between CTLA-4 polymorphisms and Behcet's disease (BD) in Chinese patients.
Methods: Two hundred and twenty eight BD patients and 207 controls were analyzed for 4 SNPs (-1661A/G, -318C/T, +49G/A, and CT60G/A) in the CTLA-4 gene by PCR-restriction fragment length polymorphism (RFLP) analysis. The association between SNP +49A/G and BD in Chinese population as well as other ethnic groups was analyzed by meta-analysis.
Results: No association could be detected between CTLA-4 SNPs or haplotypes and BD. Also no association was observed between CTLA-4 polymorphisms and BD sub-groups, stratified by clinical features. A meta-analysis showed that there was no heterogeneity between studies (p=0.60, I2=0%) and that CTLA-4 SNP +49 was not associated with BD (overall effect: Z=0.26, p=0.79).
Conclusion: Our study and a meta-analysis failed to demonstrate an association between the tested CTLA-4 polymorphisms and BD.