No association of CTLA-4 polymorphisms with susceptibility to Behçet disease

• Published in: British journal of ophthalmology Vol. 93; no. 10; p. 1378
• Main Authors: Du, L, Yang, P, Hou, S, Zhou, H, Kijlstra, A
• Format: Journal Article
• Language: English
• Published: England 01-10-2009
• Subjects: Adult; Antigens, CD - genetics; Behcet Syndrome - genetics; Behcet Syndrome - immunology; CTLA-4 Antigen; Female; Gene Frequency; Genetic Predisposition to Disease; Genotype; Haplotypes; Humans; Male; Polymorphism, Restriction Fragment Length; Polymorphism, Single Nucleotide; Young Adult
• ISSN: 1468-2079
• DOI: 10.1136/bjo.2008.156919

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 Behçet disease (BD) in Chinese patients.
Two hundred and twenty-eight BD patients and 207 controls were analysed for four single nucleotide polymorphisms (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 analysed by meta-analysis.
No association could be detected between CTLA-4 SNPs or haplotypes and BD. Also, no association was observed between CTLA-4 polymorphisms and BD subgroups, stratified by clinical features. A meta-analysis showed that there was no heterogeneity between studies (p = 0.60, I(2) = 0%) and that CTLA-4 SNP +49 was not associated with BD (overall effect: Z = 0.26, p = 0.79).
This study and a meta-analysis failed to demonstrate any association between the tested CTLA-4 polymorphisms and BD.