FoxP3 gene promoter polymorphism affects susceptibility to preeclampsia

Norouzian, Marzieh; Rahimzadeh, Mahsa; Rajaee, Minoo; Arabpour, Fahimeh; Naderi, Nadereh

doi:10.1016/j.humimm.2016.09.001

Cited by 22 publications

(41 citation statements)

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“…In the present study, the allele distributions of both polymorphisms were not significant between the case and control groups. The results of some studies reported in different diseases, including autism, breast cancer, chron's disease, Wilms' tumor, preeclampsia and psoriasis, are in line with results of the present study. Conversely, a few studies have reported the relationship between the allele frequencies of these polymorphisms and the different diseases .…”

Section: Discussionsupporting

confidence: 93%

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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Section: Discussionsupporting

confidence: 93%

Evaluation of Forkhead Box P3 gene polymorphisms in chronic HBV infection

Akgöllü

2020

The Journal of Gene Medicine

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“…Previous studies have shown that functional FOXP3 variants cause several immune-related disorders, including RA, systemic lupus erythematosus, autism, multiple sclerosis and preeclampsia, probably by changing FOXP3 expression and/or function. 23,[30][31][32] Moreover, FOXP3 rs3761548 AA genotype has been found to be associated with Behcet's disease, RA and spontaneous abortion in a Chinese Han population. 7,29,33 Similar to our results Paradowska-Gorycka et al found a strong relationship between rs3761548 polymorphism and RA in all genetic models tested.…”

Section: Discussionmentioning

confidence: 97%

“…Our result for FOXP3 rs3761548 polymorphism in grade 4 knee OA patients showed that subjects carrying the C variant allele were at higher risk for knee OA in codominant, dominant and overdominant genetic models. Previous studies have shown that functional FOXP3 variants cause several immune‐related disorders, including RA, systemic lupus erythematosus, autism, multiple sclerosis and preeclampsia, probably by changing FOXP3 expression and/or function . Moreover, FOXP3 rs3761548 AA genotype has been found to be associated with Behcet's disease, RA and spontaneous abortion in a Chinese Han population .…”

Section: Discussionmentioning

confidence: 98%

FOXP3 rs3761548 polymorphism is associated with knee osteoarthritis in a Turkish population

et al. 2018

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“…FOXO3 rs3761548 was also reported as a risk factor to immune-related pregnancy complications [28] and an important contributor for the progression of PE in Iranian women. [32] While no associations between SNP rs3761548 and preeclampsia were found either in Iranian women [33] or the Turkish population. [34] We thought that the con icting observations were conduced mainly by ethnic and geographic differences.…”

Section: Discussionmentioning

confidence: 92%

Novel Association Between FOXO3 rs2232365 Polymorphism and Late-Onset Preeclampsia: A Case-Control Candidate Genetic Study

Pan

Wei

Wang

et al. 2020

Preprint

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BackgroundBoth genetic susceptibility and dysregulated lipid metabolism are important susceptibilities to preeclampsia. In the study, we devote to investigate the associations of FOXO3 and TLR7 genetic polymorphisms with preeclampsia in a Chinese population.MethodsThis case-control study involved 335 Han Chinese pregnant women, including 177 pregnant women with preeclampsia and 158 healthy controls. The preeclampsia group was further sub-grouped into early-onset preeclampsia (EOPE, n=70）and late-onset preeclampsia (LOPE, n=107）. Three single nucleotide polymorphisms SNPs , including FOXO3 rs2232365, rs3761548, and TLR7 rs3853839 were genotyped by multiplex PCR for targeted next-generation sequencing. The χ2 test and multiple interaction effect analyses were performed to determine the association of three SNPs with serum lipid levels and thyroid function in women with preeclampsia.ResultsOur study showed that SNP rs2232365 C allele frequencies were significantly associated with the occurrence of LOPE (P=0.022, odds ratio = 1.72 (0.95 CI: 1.23-2.41)). The genotype (CC vs TT+CT) distribution of rs2232365 revealed a significant association with LOPE (P=0.004, odds ratio = 3.497 (0.95 CI: 1.498-8.164)). No significant difference was found in the genotype and allele frequencies of rs3761548 and rs3853839 between controls and cases (P>0.05). Moreover, the genotype CC of rs2232365 was significantly correlated with increased TG/HDL levels in the LOPE group (all p=0.014). ConclusionsThe polymorphisms of rs2232365 are associated with the risk of LOPE and may modulate TG/HDL levels in pregnant women with LOPE.

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FoxP3 gene promoter polymorphism affects susceptibility to preeclampsia

Cited by 22 publications

References 50 publications

Evaluation of Forkhead Box P3 gene polymorphisms in chronic HBV infection

Evaluation of Forkhead Box P3 gene polymorphisms in chronic HBV infection

FOXP3 rs3761548 polymorphism is associated with knee osteoarthritis in a Turkish population

Novel Association Between FOXO3 rs2232365 Polymorphism and Late-Onset Preeclampsia: A Case-Control Candidate Genetic Study

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