TGFB1 +869 T > C (rs1800470) variant is independently associated with susceptibility, laboratory activity, and TGF-β1 in patients with systemic lupus erythematosus
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...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
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Taylor & Francis Group
2021-11-01
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| Series: | Autoimmunity |
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| Online Access: | http://dx.doi.org/10.1080/08916934.2021.1975680 |
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| author | 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 |
| author_facet | 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 |
| author_sort | Nicole Perugini Stadtlober |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-12T00:32:22Z |
| format | Article |
| id | doaj.art-a1a0223e03ef4f1d805a6af2a2a6f22f |
| institution | Directory Open Access Journal |
| issn | 0891-6934 1607-842X |
| language | English |
| last_indexed | 2024-03-12T00:32:22Z |
| publishDate | 2021-11-01 |
| publisher | Taylor & Francis Group |
| record_format | Article |
| series | Autoimmunity |
| spelling | doaj.art-a1a0223e03ef4f1d805a6af2a2a6f22f2023-09-15T10:12:24ZengTaylor & Francis GroupAutoimmunity0891-69341607-842X2021-11-0154856957510.1080/08916934.2021.19756801975680TGFB1 +869 T > C (rs1800470) variant is independently associated with susceptibility, laboratory activity, and TGF-β1 in patients with systemic lupus erythematosusNicole Perugini Stadtlober0Tamires Flauzino1Lorena Flor da Rosa Franchi Santos2Tatiana Mayumi Veiga Iriyoda3Neide Tomimura Costa4Marcell Alysson Batisti Lozovoy5Edna Maria Vissoci Reiche6Andréa Name Colado Simão7Laboratory of Research in Applied Immunology, State University of LondrinaLaboratory of Research in Applied Immunology, State University of LondrinaLaboratory of Research in Applied Immunology, State University of LondrinaDepartment of Rheumatology, Pontifical Catholic University of Paraná (PUC/PR)Department of Rheumatology, State University of LondrinaDepartment of Pathology, Clinical Analysis and Toxicology, Laboratory of Research in Applied Immunology, State University of LondrinaDepartment of Pathology, Clinical Analysis and Toxicology, Laboratory of Research in Applied Immunology, State University of LondrinaDepartment of Pathology, Clinical Analysis and Toxicology, Laboratory of Research in Applied Immunology, State University of LondrinaThe 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.http://dx.doi.org/10.1080/08916934.2021.1975680systemic lupus erythematosustransforming growth factor-beta 1rs1800470rs18004469sledai |
| spellingShingle | 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 TGFB1 +869 T > C (rs1800470) variant is independently associated with susceptibility, laboratory activity, and TGF-β1 in patients with systemic lupus erythematosus Autoimmunity systemic lupus erythematosus transforming growth factor-beta 1 rs1800470 rs18004469 sledai |
| title | TGFB1 +869 T > C (rs1800470) variant is independently associated with susceptibility, laboratory activity, and TGF-β1 in patients with systemic lupus erythematosus |
| title_full | TGFB1 +869 T > C (rs1800470) variant is independently associated with susceptibility, laboratory activity, and TGF-β1 in patients with systemic lupus erythematosus |
| title_fullStr | TGFB1 +869 T > C (rs1800470) variant is independently associated with susceptibility, laboratory activity, and TGF-β1 in patients with systemic lupus erythematosus |
| title_full_unstemmed | TGFB1 +869 T > C (rs1800470) variant is independently associated with susceptibility, laboratory activity, and TGF-β1 in patients with systemic lupus erythematosus |
| title_short | TGFB1 +869 T > C (rs1800470) variant is independently associated with susceptibility, laboratory activity, and TGF-β1 in patients with systemic lupus erythematosus |
| title_sort | tgfb1 869 t c rs1800470 variant is independently associated with susceptibility laboratory activity and tgf β1 in patients with systemic lupus erythematosus |
| topic | systemic lupus erythematosus transforming growth factor-beta 1 rs1800470 rs18004469 sledai |
| url | http://dx.doi.org/10.1080/08916934.2021.1975680 |
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