TGFB1 +869 T > C (rs1800470) variant is independently associated with susceptibility, laboratory activity, and TGF-β1 in patients with systemic lupus erythematosus

Autor: Nicole Perugini Stadtlober, Tamires Flauzino, Lorena Flor da Rosa Franchi Santos, Tatiana Mayumi Veiga Iriyoda, Neide Tomimura Costa, Marcell Alysson Batisti Lozovoy, Edna Maria Vissoci Reiche, Andréa Name Colado Simão
Jazyk: angličtina
Rok vydání: 2021
Předmět:
Zdroj: Autoimmunity, Vol 54, Iss 8, Pp 569-575 (2021)
Druh dokumentu: article
ISSN: 0891-6934
1607-842X
08916934
DOI: 10.1080/08916934.2021.1975680
Popis: 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.
Databáze: Directory of Open Access Journals
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