FOXP3 variants are independently associated with transforming growth factor B1 plasma levels in female patients with inflammatory bowel disease

Abstract Objective: The aim of this study was to evaluate the association of -924 G>A (rs2232365) and -3279 C>A (rs3761548) FOXP3 variants with IBD susceptibility, clinical and endoscopic activity, and IL-10 and TGF-β1 plasma levels. Method: The study included 110 IBD female patients, 60 with Ulcerative Colitis (UC) and 50 with Crohn’s Disease (CD), and 154 female controls. FOXP3 variants were determined with Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP). Plasma levels of IL-10 and TGF-β1 were determined using immuno-fluorimetric assay. Results: AA genotype of rs2232365 and rs3761548 was associated with CD (OR = 3.147, 95% CI 1.015-9.758, p = 0.047) and UC (OR = 3.221, 95% CI 1.050-9.876, p = 0.041) susceptibility, respectively. However, were not associated with TGF-β1 and IL-10 levels, and endoscopic/clinical activity disease. GAGA haplotype was associated with IBD (OR = 4.003, 95% CI 1.100–14.56, p = 0.035) and UC susceptibility (OR = 6.107, 95% CI 1.609–23.18, p = 0.008). In addition, IBD patients with the GAGA haplotype had lower TGF-β1 levels (p = 0.041). Moreover, G/C haplotype (dominant model) had a protective effect of 60% in CD susceptibility and lower Endoscopic Severity Index. Conclusions: These results suggest that FOXP3 variants could exert a role in the Treg, which could be one of the factors involved in the susceptibility and pathogenesis of IBD.

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Bibliographic Details
Main Authors: Inoue,Cláudia Junko, Flauzino,Tamires, Goncalves,Beatriz Piantoni, Paula,Jaqueline Costa Castardo de, Galvão,Talita Cristina, Miyazaki,Paula Kikuchi, Alcantara,Camila Cataldi de, Westmore,Lucilene Rosa e Silva, Lozovoy,Marcell Alysson Batisti, Reiche,Edna Maria Vissoci, Simão,Andréa Name Colado
Format: Digital revista
Language:English
Published: Faculdade de Medicina / USP 2022
Online Access:http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1807-59322022000100253
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