• Cláudia Junko Inoue, Tamires Flauzino, Beatriz Piantoni Gonçalves, Jaqueline Costa Castardo de Paula, Talita Cristina Galvão, Paula Kikuchi Miyazaki, Camila Cataldi de Alcantara, Lucilene Rosa E Silva Westmore, LozovoyMarcell Alysson BatistiMABDepartment of Pathology, Clinical Analysis and Toxicology, Health Sciences Center, Universidade Estadual de Londrina, Londrina, PR, Brazil., ReicheEdna Maria VissociEMVDepartment of Pathology, Clinical Analysis and Toxicology, Health Sciences Center, Universidade Estadual de Londrina, Londrina, PR, Brazil., and SimãoAndréa Name ColadoANCDepartment of Pathology, Clinical Analysis and Toxicology, Health Sciences Center, Universidade Estadual de Londrina, Londrina, PR, Brazil. Electronic address: deiname@uel.br..
• Laboratory of Research in Applied Immunology, Universidade Estadual de Londrina, Londrina, PR, Brazil; Outpatient Clinic of Gastroenterology, Hospital Universitário, Universidade Estadual de Londrina, Londrina, PR, Brazil.
• Clinics (Sao Paulo). 2022 Jan 1; 77: 100084.

ObjectiveThe 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.MethodThe 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 immunofluorimetric assay.ResultsAA 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.ConclusionsThese 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.Copyright © 2022 HCFMUSP. Published by Elsevier España, S.L.U. All rights reserved.

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