文章基本信息

标题：Haplotypes of FOXP3 genetic variants are associated with susceptibility, autoantibodies, and TGF-β1 in patients with systemic lupus erythematosus
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作者：Nicole Perugini Stadtlober ; Tamires Flauzino ; Lorena Flor da Rosa Franchi Santos 等
期刊名称：Scientific Reports
电子版ISSN：2045-2322
出版年度：2021
卷号：11
期号：1
页码：5406
DOI：10.1038/s41598-021-84832-3
出版社：Springer Nature
摘要：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.
其他摘要：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.