The role of FOXP3 rs3761548 and rs2294021 polymorphisms in pediatrics acute lymphoblastic leukemia: association with risk and response to therapy

Ghasemi, Zahra; Kalantar, Kurosh; Amirghofran, Zahra

doi:10.1007/s11033-021-06154-x

Cited by 2 publications

(6 citation statements)

References 44 publications

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“…We found the CT genotype in females, and the C allele in males were disease risk factors. In agreement with our data, Ghasemi et al [ 27 ] recorded no significant variation in the frequency of this SNP between ALL patients and controls, although reporting TT genotype as a risk factor. Contrary to our results, Nam and his colleagues [ 24 ] found higher frequencies of rs3761549TT genotype compared to other genotypes in leukemic patients who had allogeneic hematopoietic stem cell transplantation.…”

Section: Discussionsupporting

confidence: 93%

“…We found a significant reduction in CA genotype frequency and a noticeable elevation in CC genotype in female patients compared to control ones. In agreement with this result, Ghasemi et al [ 27 ] data revealed lower frequencies of rs3761548 CA genotype in female ALL children than controls.…”

Section: Discussionsupporting

confidence: 79%

“…Consequently, this SNP was proposed as a candidate indicator for predicting serious complications in pediatric ALL patients following allogeneic hematopoietic stem cell transplantation. Contrary, Ghasemi et al [ 27 ] reported AA genotype as a risk factor for the disease in Iranian patients. Furthermore, data of FOXP3 rs3761549C/T revealed an insignificant change in genotype distribution between both groups.…”

Section: Discussionmentioning

confidence: 95%

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Genetic variation in FOXP3 and ROR-γ genes in pediatric acute lymphocytic leukemia (ALL) patients: correlation with associated cytokines

et al. 2022

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Background FOXP3 and ROR-γ genes are master regulators of the Treg and Th17 differentiation, respectively. This work was planned to investigate the impact of FOXP3 (rs3761548C/A and rs3761549C/T) and ROR-γ (rs9017A/G & rs9826A/G) gene polymorphism on the vulnerability of pediatric Egyptians to acute lymphoblastic leukemia (ALL). Furthermore, we evaluated the impact of these genetic variations on Treg/Th17-related cytokines. Methods FOXP3 SNPs were genotyped using PCR-based restriction fragment length polymorphism (PCR-RFLP), while ROR-γ SNPs polymorphism were performed by PCR-sequence-specific primer (PCR-SSP). An Enzyme-linked immunosorbent assay (ELISA) was used to assess the levels of Treg/Th17 associated cytokines on 128 ALL children and 124 healthy donors. Results Compared to controls, patients had a significant increase (p < 0.01/p < 0.05) in FOXP3rs3761548CC genotype and a significant decrease (p < 0.001/p < 0.01) inrs3761548CA genotype. A significant elevation (p < 0.001/p < 0.01) in ROR-γ rs9017AA genotype and a significant reduction (p < 0.01/p < 0.05) in rs9017AG genotype were detected in ALL patients versus controls. An insignificant change in FOXP3 (rs3761549C/T) and ROR-γ (rs9826A/G) genotypes was demonstrated between both groups. ROR-γ GG and GA haplotypes were significantly decreased (p < 0.05/p < 0.05; p < 0.05/p < 0.05) in ALL subjects compared to healthy ones. Relapsed patients had a significantly higher (p < 0.05/P < 0.05) frequency of FOXP3 rs3761548CA genotype than non-relapsed subjects. ROR-γ rs9017AG and rs9826GG genotypes might be associated with the increase in IL-23 plasma level. Conclusions Our preliminary data provided evidence for the impact ofFOXP3 (rs3761548C/A) and ROR-γ (rs9017A/G) gene polymorphisms and the occurrence of ALL in Egyptian children. Another large-scale prospective study should be conducted to validate these findings.

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Section: Discussionsupporting

confidence: 93%

Section: Discussionsupporting

confidence: 79%

Section: Discussionmentioning

confidence: 95%

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Genetic variation in FOXP3 and ROR-γ genes in pediatric acute lymphocytic leukemia (ALL) patients: correlation with associated cytokines

et al. 2022

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“…Regulatory T cells, which regulate the function of various immune cells, including CD4+ T cells, CD8+ T cells, effector T cells, and antigen-presenting cells, can contribute to persistent HBV infection and disease progression (10,13). Our study revealed that the FoxP3 -3279 AC (rs3761548) genotype can play a protective role against HBV infection when compared to AA+CC genotypes (P = 0.000).…”

Section: Discussionmentioning

confidence: 69%

“…The FoxP3 -3279 (rs3761548) C/A polymorphism resides in the promoter region of the FoxP3 gene and serves as a binding site for the transcription factor specificity protein 1 (Sp1). Polymorphisms in FoxP3 can modulate its expression levels, impacting Treg-suppressive capabilities (10). An allele of this polymorphism is associated with reduced FoxP3 expression.…”

Section: Introductionmentioning

confidence: 99%

The Influence of Foxp3 Treg Cell Gene Polymorphism (rs3761548) on FoxP3 Gene Expression in Patients with Chronic Hepatitis B Virus Infection

Rahimzadegan,

Elikaei,

Sharifi

et al. 2024

Hepat Mon

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: Immune responses are pivotal in hepatitis B virus (HBV) infection, where Regulatory T cells (Treg) can contribute to sustaining the infection by suppressing immune responses. Forkhead box P3 (FoxP3) is the central regulator of Treg cells. In this case-control study, we investigated the role of FoxP3 -3279 (rs3761548) C/A polymorphism in the context of HBV infection. The study encompassed 140 healthy individuals as the control group and 70 individuals with chronic hepatitis B virus (CHBV) as the case group. The rs3761548 polymorphism was analyzed using the restriction fragment length polymorphism-PCR (PCR-RFLP) method. Furthermore, we evaluated FoxP3 gene expression in both HBV-positive and control groups using Real-Time PCR. The results revealed that the frequency of the AA genotype in the case and control groups was 52.9% and 44.3%, respectively, yielding an odds ratio (OR) of 1.411 with a 95% confidence interval (CI) ranging from 0.793 to 2.509. However, this difference did not achieve statistical significance (P = 0.242). Notably, the AC genotype was significantly more prevalent in the control group compared to the case group (P = 0.000). Moreover, FoxP3 gene expression was significantly higher in CHBV infection cases compared to the control group (P = 0.000). These findings suggest that the observed polymorphism may play a role in the pathogenesis and persistence of HBV infection. Nevertheless, further research is warranted to comprehensively investigate this phenomenon.

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The role of FOXP3 rs3761548 and rs2294021 polymorphisms in pediatrics acute lymphoblastic leukemia: association with risk and response to therapy

Cited by 2 publications

References 44 publications

Genetic variation in FOXP3 and ROR-γ genes in pediatric acute lymphocytic leukemia (ALL) patients: correlation with associated cytokines

Genetic variation in FOXP3 and ROR-γ genes in pediatric acute lymphocytic leukemia (ALL) patients: correlation with associated cytokines

The Influence of Foxp3 Treg Cell Gene Polymorphism (rs3761548) on FoxP3 Gene Expression in Patients with Chronic Hepatitis B Virus Infection

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