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AB0094 Association of TGF-beta1 - 509c/t polymorphism and TGF-beta1 serum levels with systemic lupus erythematosus
  1. M. Ivanova Goycheva1,
  2. I. Manolova2,
  3. E. Aleksandrova3,
  4. R. Stoilov1,
  5. R. Rashkov1,
  6. L. Miteva4,
  7. S. Stanilova4
  1. 1Clinic of Rheumatology, University Hospital “Sv. Iv. Rilski”, Sofia
  2. 2Health Care
  3. 3General and Clinical Pathology
  4. 4Molecular Biology, Immunology and Medical Genetics, Medical Faculty, Trakia University, Stara Zagora, Bulgaria


Background Recent evidences suggest a role of transforming growth factor-beta1 (TGF-beta1) in preventing autoimmune diseases, such as systemic lupus erythematosus (SLE).

Objectives The aim of this study was to investigate the relationship of -509C>T polymorphism of the TGF-beta1 gene and TGF-beta1 serum levels with susceptibility to SLE in Bulgarian population

Methods 157 SLE patients and 134 healthy controls were studied. TGF-beta1 serum levels were measured by enzyme-linked immunosorbent assay and genotyping for the -509C>T polymorphism was performed by restriction fragment length polymorphisms (RFLP) - PCR assay.

Results No significant differences in allele frequencies of -509C>T polymorphism of TGF-beta1 gene between SLE patients and healthy controls were observed. Although the genotype frequencies were comparable between patients and controls, higher frequency of heterozygous genotype CT (OR=1.57, 95%CI =0.96$÷ $2.59) and lower frequency of homozygous genotype TT (OR=0.63, 95%CI =0.33$÷ $21.21) was seen in cases versus controls. The -509C>T polymorphism was also associated with some clinical manifestations of SLE: CT genotype was more frequent in patients with hematological manifestations (OR=2.42, 95%CI=1.1$÷ $5.32) and with antibodies to dsDNA (OR=2.0, 95%CI=0.96$÷ $4.2) compared to cases without these clinical features. Our results showed a significantly lower amount of serum TGF-beta1 in SLE patients compared to controls (p<0.001). An association between high TGF-beta1 serum levels and T allele was established in healthy individuals but not in SLE patients.

Conclusions The -509C>T polymorphism of TGF-beta1 gene may be one of the components of genetic susceptibility to SLE in Bulgarian population. In addition, our results support the role of TGF-beta1 as key immunoregulatory cytokine in the pathogenesis of SLE.

Disclosure of Interest None Declared

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