Promoter Methylation, Polymorphism and Expression status of Cytotoxic T-Lymphocyte-Associated Antigen-4 in Patients with lupus

Systemic lupus erythematous (SLE) is an autoimmune disease with unknown etiology, in which autoantibodies directly contribute to the destruction of organs such as kidneys, joints, and skin.The CTLA4 play an important role in inhibition the activity of T cells and thus preventing autoimmune disorders like lupus.Material and methods: We isolated genomic DNA from peripheral blood of 50 individuals with SLE and 50 control subjects. Analysis of CTLA4 gene polymorphisms in polymorphic sites -318(CT) and +49(AG) was done by Tetra-ARMS-PCR. Methylation-specific polymerase chain reaction (MS-PCR) used to estimate promoter hyper methylation of the CTLA4 gene. Also we analyzed CTLA4 mRNA levels in 30 blood samples from cases and healthy controls using real-time PCR.Results: Promoter methylation changes of CTLA4 gene was remarkably different in patients with lupus in contrast with healthy controls (OR= 0.48; 95% CI= 0.1959, 1.202; P-value= 0.005). However, gene expression level of CTLA4 were not statistically different in patients and healthy controls Conclusion: This epigenetic study may give us an overview of the role of promoter methylation in the pathogenesis of SLE. However, further studies with larger sample sizes on more populations require to be made to prove this theory in the future.

کلیدواژه ها:

Systemic lupus erythematous ، Promoter Methylation ، Polymorphism ، Gene Expression