Association of functional genetic variants of transcription factor Forkhead Box P3 and Nuclear Factor-κB with end-stage renal disease and renal allograft outcome

Misra, Maneesh Kumar; Mishra, Aditi; Pandey, Sandeep; Kapoor, Rakesh; Sharma, Raj Kumar; Agrawal, Suraksha

doi:10.1016/j.gene.2016.01.028

Cited by 28 publications

(28 citation statements)

References 46 publications

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“…Our negative results regarding an association between FoxP3 SNP rs3761548 (A/C) and the risk for renal allograft rejection disagree with the previous publications of Qiu et al and Misra et al who reported higher rates of graft rejection and lower graft survival in carriers of the AA genotype compared with carriers of the CC genotype. It should be pointed out that both of these author groups did not distinguish between males and females in their analysis, although the FoxP3 gene is located on chromosome X. We therefore believe that their approach could have led to an overrepresentation of the more frequent C haplotype and skewed the data analysis.…”

Section: Demographic Characteristics Of Study Populationcontrasting

confidence: 99%

“…FoxP3, a member of the forkhead/winged‐helix family of transcriptional regulators, is required for the differentiation and function of T reg . Several single nucleotide polymorphisms (SNPs) and a (GT) n ‐dinucleotide repeat polymorphism in the FoxP3 promoter region have been described according to the NCBI SNP Database and Bassuny et al Among these genetic variants, the SNP rs3761548 (A/C) and the (GT) n microsatellite have previously been shown to be associated with graft rejection and survival after kidney transplantation …”

Section: Demographic Characteristics Of Study Populationmentioning

confidence: 99%

“…The number of cases studied may have been an additional limiting factor. In the study of Qiu et al, the patient cohort with the risk genotype AA consisted of only 15 patients (10 rejectors and 5 controls); Misra et al did not indicate how many cases were included in each genotype group. Notably, Qiu et al referred to a publication of Shen et al who had described a strong influence of the rs3761548 AA genotype on the transcription of the FoxP3 gene; but this article was retracted later on, leaving open the question whether the SNP rs3761548 really has a functional impact on FoxP3 gene transcription/expression.…”

Section: Demographic Characteristics Of Study Populationmentioning

confidence: 99%

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Assessing the impact of FoxP3 and Vav1 gene polymorphisms on kidney allograft survival

Adámek

Döhler

Hasan

et al. 2017

HLA

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FoxP3 and Vav1 are known to be involved in the development of regulatory T cells. Two polymorphic sites in the FoxP3 promoter (rs3761548 and a (GT) -dinucleotide repeat) and 2 single nucleotide polymorphisms in intron 1 of the Vav1 gene (rs2546133 and rs2617822) have been shown to correlate with gene expression levels. We investigated a potential impact of FoxP3 and Vav1 genetic variants on kidney allograft failure using samples and data of the Collaborative Transplant Study. A cohort of 384 kidney transplant patients was tested. We found no significant association of FoxP3 promoter rs3761548 or (GT) repeat length with presumed immunological graft failure. The genotype frequencies of Vav1 intron polymorphisms did not significantly differ between patients with graft failure and matched controls.

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Section: Demographic Characteristics Of Study Populationcontrasting

confidence: 99%

Section: Demographic Characteristics Of Study Populationmentioning

confidence: 99%

Section: Demographic Characteristics Of Study Populationmentioning

confidence: 99%

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Assessing the impact of FoxP3 and Vav1 gene polymorphisms on kidney allograft survival

Adámek

Döhler

Hasan

et al. 2017

HLA

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“…Recently, an association between the AA genotype and allograft rejection has been reported in kidney transplantation in Chinese individuals [16]. In addition, an association between the rs3761548 A allele and AR and between the rs3761548 AA genotype and lower graft survival have been reported in Indian individuals [18], which is similar to our findings. Polymorphisms in the promoter of the Foxp3 may alter the binding specificity of transcription factors, thus influencing transcription initiation, and therefore, might affect the function or quantity of Treg [24].…”

Section: Discussionsupporting

confidence: 91%

“…Recently, an association between Foxp3 polymorphisms and graft outcome has been reported also with conflicting results [161718]. Therefore, we analyzed the association of four Foxp3 single nucleotide polymorphisms (SNPs) (rs3761548 A/C, rs2280883 C/T, rs5902434 del/ATT, and rs2232365 A/G) with graft outcome in kidney transplantation.…”

Section: Introductionmentioning

confidence: 99%

Association ofFoxp3Polymorphism With Allograft Outcome in Kidney Transplantation

Park

Lee

et al. 2017

Ann Lab Med

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BackgroundForkhead box P3 (Foxp3) is the most reliable marker for regulatory T cells, which play an important role in maintaining renal allograft tolerance. Recently, Foxp3 polymorphisms have been reported to be associated with graft outcome in kidney transplantation. We analyzed the association of Foxp3 polymorphisms with renal allograft outcome.MethodsFoxp3 polymorphisms (rs3761548 A/C, rs2280883 C/T, rs5902434 del/ATT, and rs2232365 A/G) were tested by PCR with sequence-specific primers (PCR-SSP) in 231 adult kidney transplantation recipients from 1996-2004 at Seoul National University Hospital.ResultsPatients with the rs3761548 CC genotype showed better graft survival than those with the AC or AA genotype (log rank test, P=0.03). Patients with the rs3761548 CC genotype also showed a lower rate of recurrence of the original glomerular disease than those with the AC or AA genotype (P=0.01). The frequency of acute rejection (AR) in patients with the rs2280883 TT genotype was lower than that in patients with the rs2280883 CT or CC genotype (26.9% vs 53.3%, P=0.038). Patients with the rs2280883 TT genotype also showed better graft survival than those with the CT or CC genotype (P=0.03).ConclusionsFoxp3 rs3761548 CC and rs2280883 TT genotypes were associated with superior graft outcome of kidney transplantation. Further studies involving a larger number of patients are needed.

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Evaluation of Forkhead Box P3 gene polymorphisms in chronic HBV infection

Akgöllü

2020

The Journal of Gene Medicine

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Background: Hepatitis B virus (HBV) infection causes liver failure, liver cirrhosis and hepatocellular carcinoma. The FOXP3 gene polymorphisms, the rs2232365 A/G and the rs3761548 A/C, were identified to be associated with regulatory T cell-mediated immunosuppression. The response to HBV infection may be affected by FOXP3 polymorphisms. The present study aimed to assess the relationship between FOXP3 gene polymorphisms and chronic HBV infection risk. Methods: FOXP3 gene polymorphisms were explored in 237 chronic HBV patients and in 237 individuals with HBV spontaneous clearance using a real-time polymerase chain reaction. Results:The patients with rs2232365 AG and rs3761548 AC genotype had a 1.20and a 1.58-fold greater HBV risk than non-carriers patients, although they were not significant. Moreover, the AA genotypes of both polymorphisms in the males and females had an increased the persistent HBV risk, although this also was not statistically significant. Conclusions:In conclusion, the present study is the first report to demonstrate that these polymorphisms have no effect on the risk of chronic HBV infection. This results suggest that FOXP3 gene polymorphisms and FOXP3 expression should be evaluated together with frequency of regulatory T cells in HBV infection.Evidence has shown that an increased frequency of circulating Treg cells causes the negative regulation of a functional CD8 + T cell response by suppressing the CD4 + T cell response, with consequent development of chronic HBV infection. 9 FOXP3 (Forkhead Box P3), a transcription factor, is a primary protein for the activation and development of Treg cells that have suppressor ability with respect to the immune response. 10 The FOXP3 gene is on chromosome Xp11.23.The FOXP3 gene has functional polymorphic domains located in DNA-binding sites of the promoter region, and their presence may affect FOXP3 gene expression. Accordingly, the activation and development of Treg cells may be impaired. 11,12 These polymorphisms in the promoter of the FOXP3 gene, the rs2232365 A/G and the rs3761548 A/C, have been associated with various diseases, including autism, 12 allergic rhinitis, 13 vitiligo, 14 multiple sclerosis, 15 hepatocellular carcinoma and non-small cell lung cancer. 16 However, to date, there are no studies available concerning the influence of the FOXP3 polymorphisms on CHB infection. Although a few important studies have investigated FOXP3 expression in HBV infection and HBVrelated diseases, FOXP3 gene polymorphisms have not yet been investigated in HBV infection. 17-19 The presernt study aimed to clarify the relationship between CHB infection risk and FOXP3 gene (rs2232365 A/G, rs3761548 A/C) polymorphisms. These polymorphisms were explored in 237 patients with HBV infection and in 237 individuals with HBV spontaneous clearance using a real-time polymerase chain reaction (RT-PCR) in a Turkish population. provided their written informed consent concerning the use of their blood specimen for this research. The work was carried out in accordance with th...

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Association of functional genetic variants of transcription factor Forkhead Box P3 and Nuclear Factor-κB with end-stage renal disease and renal allograft outcome

Cited by 28 publications

References 46 publications

Assessing the impact of FoxP3 and Vav1 gene polymorphisms on kidney allograft survival

Assessing the impact of FoxP3 and Vav1 gene polymorphisms on kidney allograft survival

Association ofFoxp3Polymorphism With Allograft Outcome in Kidney Transplantation

Evaluation of Forkhead Box P3 gene polymorphisms in chronic HBV infection

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