Abstract
The aim of this study was to evaluate the association of the +869 T > C (rs1800470) and −509 C > T (rs1800469) TGFB1 variants, individually or in haplotypes structure, with susceptibility, autoantibodies, disease activity, and TGF-β1 plasma levels in patients with systemic lupus erythematosus (SLE). The study included 203 patients with SLE and 165 healthy controls. TGFB1 variants were determined by real-time polymerase chain reaction (qPCR). Plasma levels of TGF-β1 were determined using immunofluorimetric assay. The TGFB1 + 869 CC genotype was associated with SLE susceptibility (OR: 1.710, 95%CI: 1.020–2.866, p = 0.042) and with reduction of C4 (p = 0.040) and TGF-β1 levels (p = 0.044). In addition, patients with TGFB1 + 869 TC and CC genotypes and positive anti-dsDNA had lower TGF-β1 levels than those with TT (p = 0.004). TGFB1 −509 TT genotype was associated with reduced levels of C4 (p = 0.032). There was no association between haplotypes and clinical and laboratory parameters. Our data demonstrated that the TGFB1 + 869 T > C variant could be used as a genetic marker for SLE susceptibility and both variants as predictors of laboratory activity. This is the first study to demonstrate that TGF-β1 levels could be modulated by the interaction between TGFB1 + 869 C allele, in homozygosity, or heterozygosity, and the presence of anti-dsDNA.
Ethical approval
This study was conducted after approval by the Institutional Research Ethics Committees of the University of Londrina, Paraná, Brazil (CAAE: 01865212.0.0000.5231). All procedures performed in this study involving human participants were according to the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.
Author contributions
Conception and research design: Andréa Name Colado Simão, Tamires Flauzino, Nicole Perugini Stadtlober; Manuscript writing and discussion of results: Andréa Name Colado Simão; Edna Maria Vissoci Reiche; Nicole Perugini Stadtlober; Tamires Flauzino; Data collection: Nicole Perugini Stadtlober, Lorena Flor da Rosa Franchi Santos, Tatiana Mayumi Veiga Iriyoda, Neide Tomimura Costa which contributed equally; Laboratory analysis: Nicole Perugini Stadtlober, Tamires Flauzino, Lorena Flor da Rosa Franchi Santos, Marcell Alysson Batisti Lozovoy; Statistical analysis: Andréa Name Colado Simão, Tamires Flauzino. All authors have read and approved the final manuscript.
Disclosure statement
The authors declare that they have no conflict of interest.