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

Departments of Internal Medicine, Medical College, National Cheng Kung University, Tainan, Taiwan, Republic of China; Department of Internal Medicine, National Cheng Kung University Hospital, 138 Sheng Li Road, Tainan, Taiwan, Republic of China.; Mfliu{at}mail.ncku.edu.tw

C-R Wang

L-C Lin

C-R Wu

Departments of Internal Medicine, Medical College, National Cheng Kung University, Tainan, Taiwan, Republic of China

Cytotoxic T lymphocyte associated antigen 4 (CTLA-4), a structural homologue of CD28, has been reported to be an important negative regulator of autoimmune diseases. Recent studies showed that CTLA-4 gene polymorphism was associated with several kinds of human autoimmune diseases, suggesting that CTLA-4 gene is probably a general susceptibility gene to autoimmune 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 systemic lupus erythematosus (SLE). CTLA-4 gene polymorphism in promoter and exon 1 was detected by polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP) method in 81 patients with SLE and 81 normal controls. The results showed that there were no statistically significant differences in both exon 1 and promoter gene polymorphism between SLE patients and normal controls. The preliminary study does not suggest an association of the known polymorphism in exon 1 and promoter of CTLA-4 gene with Chinese SLE. However, SLE is a very heterogeneous syndrome and CTLA-4 gene polymorphism might correlate with some specific clinical features. To exploring this possibility, subgroup analysis in more patients needs to be performed.

Key Words: CTLA-4 gene • exon 1 • promoter

Lupus, Vol. 10, No. 9, 647-649 (2001)
DOI: 10.1191/096120301682430249


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