CTLA-4 gene polymorphism in promoter and exon-1 regions in Chinese patients with systemic lupus erythematosus

Cytotoxic T lymphocyte associated antigen 4 (CTLA-4), a structural homologu e of CD28, has been reported to be an important negative regulator of autoi mmune diseases. Recent studies showed that CTLA-4 gene polymorphism was ass ociated with several kinds of human autoinunune diseases, suggesting that C TLA-4 gene is probably a general susceptibility gene to autoinunune disease . The present study was conducted in Chinese to determine whether there is any association of the CTLA-4 gene polymorphism with the development of sys temic lupus erythematosus (SLE). CTLA-4 gene polymorphism in promoter and e xon I was detected by polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP) method in 81 patients with SLE and 81 normal con trols. The results showed that there were no statistically significant diff erences in both exon I and promoter gene polymorphism between SLE patients and normal controls. The preliminary study does not suggest an association of the known polymorphism in exon I and promoter of CTLA-4 gene with Chines e SLE. However, SLE is a very heterogeneous syndrome and CTLA-4 gene polymo rphism might correlate with some specific clinical features. To exploring t his possibility, subgroup analysis in more patients needs to be performed.