Genotypic analysis of the TGF beta-509 allele in patients with systemic lupus erythematosus and Sjogren's syndrome

Transforming growth factor beta (TGFbeta) is a secreted protein present in the circulation and is a critical regulator of the body's immune system. TGFbeta is believed to control several components of the immune system and inhibit autoimmune reactions. Systemic lupus erythematosus (SLE) and Sjogren's syndrome (SS) are prototypical human autoimmune diseases characterized by the circulating autoantibodies directed against nuclear antigens and immune complex deposition in various tissues leading to target organ inflammation and damage. Although the etiology of SLE is unknown, it has been observed that patients with SLE have lower levels of circulating TGFbeta than healthy individuals. In addition, mice lacking the TGFbeta 1 gene develop a severe autoimmune disease that has features of both SS and SLE. Polymorphisms in the TGFbeta 1 gene may alter the mRNA expression levels and influence the plasma protein concentration. Of the known TGFbeta 1 polymorphisms, only the C-509T polymorphism in the promoter region has been shown to be significantly associated with the plasma concentrations of TGFbeta 1. In this study, we have conducted a blinded study to determine if the -509 TGFbeta 1 gene polymorphism, is associated with SS or SLE. Genomic PCR and RFLP analysis of a 441 bp sequence encompassing the -509 polymorphism of the TGFbeta gene indicated that there were no statistically significant clinical correlations. (C) 2004 Elsevier SAS. All rights reserved.