Haplotypes of FOXP3 genetic variants are associated with susceptibility, autoantibodies, and TGF-β1 in patients with systemic lupus erythematosus

Abstract The aim of this study was to evaluate the association of rs2232365 (-924 G > A) and rs3761548 (-3279 C > A) FOXP3 variants with systemic lupus erythematosus (SLE) susceptibility, TGF-β1 plasma levels, autoantibodies, and LN nephritis, and SLE disease activity index (SLEDAI). The study...

Descripción completa

Guardado en:
Detalles Bibliográficos
Autores principales: Nicole Perugini Stadtlober, Tamires Flauzino, Lorena Flor da Rosa Franchi Santos, Tatiana Mayumi Veiga Iriyoda, Neide Tomimura Costa, Marcell Alysson Batisti Lozovoy, Isaias Dichi, Edna Maria Vissoci Reiche, Andréa Name Colado Simão
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2021
Materias:
R
Q
Acceso en línea:https://doaj.org/article/96575ceda084461db2a25d6c52d739b8
Etiquetas: Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!
Descripción
Sumario:Abstract The aim of this study was to evaluate the association of rs2232365 (-924 G > A) and rs3761548 (-3279 C > A) FOXP3 variants with systemic lupus erythematosus (SLE) susceptibility, TGF-β1 plasma levels, autoantibodies, and LN nephritis, and SLE disease activity index (SLEDAI). The study included 196 SLE female patients and 157 female controls. FOXP3 variants were determined with polymerase chain reaction-restriction fragment length polymorphism (PCR–RFLP). Plasma levels of TGF-β1 were determined using immunofluorimetric assay. The AA genotype [OR: 2.650, CI 95%(1.070–6.564), p = 0.035] and A allele [OR: 2.644, CI 95%(1.104–6.333), p = 0.029] were associated with SLE diagnosis in the -3279 C > A. The A/A haplotype was associated with SLE [OR: 3.729, CI 95%(1.006–13.820), p = 0.049]. GCGC haplotype patients had higher TGF-β1 levels (p = 0.012) than other haplotypes. Patients with -924 AA genotype showed higher frequency of anti-dsDNA (p = 0.012) and anti-U1RNP (p = 0.036). The A/C haplotype had higher SLEDAI score [OR: 1.119, CI 95%(1.015–1.234), p = 0.024] and ACAC haplotype higher frequency of anti-dsDNA [OR: 3.026, CI 95%(1.062–8.624), p = 0.038], anti-U1RNP [OR: 5.649, CI 95%(1.199–26.610), p = 0.029] and nephritis [OR: 2.501, CI 95%(1.004–6.229), p = 0.049]. Our data demonstrate that the G/C haplotype provides protection for SLE. While the presence of allele A of both variants could favor autoimmunity, disease activity, and LN.