12 results on '"rs2232365"'
Search Results
2. The FOXP3-924 A/G Single Nucleotide Polymorphism May Be Associated with Predictive Factors for Human T Lymphotropic Virus 1 Associated Myelopathy.
- Author
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Madureira, Max W.S., Queiroz, Maria Alice F., Lima, Sandra S., Pereira, Leonn M.S., da Costa, Carlos A., de Sousa, Maísa S., Feitosa, Rosimar N.M., Monteiro, Jacqueline C., Ishak, Ricardo, Vallinoto, Antonio C.R., and Rangel da Silva, Andréa Nazaré M.
- Subjects
- *
HTLV , *FORKHEAD transcription factors , *SINGLE nucleotide polymorphisms , *REGULATORY T cells , *T cells , *SPINAL cord diseases , *GENE expression - Abstract
Human T lymphotropic virus 1 (HTLV-1) is a retrovirus associated with inflammatory diseases, including HTLV-1-associated myelopathy (HAM), and host genetic factors may be involved in disease evolution. The forkhead Box P3 (FOXP3) transcription factor is linked to homeostasis of the immune system, and the presence of polymorphisms in the promoter region of the FOXP3 gene should reflect its expression levels and consequent activation of regulatory T cells, which may contribute to severe inflammatory disorders, such as HAM. This study evaluated the rs2232365 polymorphism (−924 A/G) located in the promoter region of the FOXP3 gene and its association with HAM. Forty DNA samples from asymptomatic carriers and 25 samples from HAM patients were used, in addition to 130 control samples. The polymorphism was genotyped by conducting real-time polymerase chain reaction (PCR) (quantitative PCR [qPCR]) on extracted DNA. The proviral loads (PVLs) and CD4+ and CD8+ T lymphocyte counts were determined by qPCR and FACSCalibur flow cytometry, respectively. The PVLs, CD4+ T lymphocyte concentrations, and tumor necrosis factor-α dosages were considered predictive factors of the clinical profiles of HTLV-1 infection, all of which had higher levels in the HAM group. Carriers of the GG genotype for the polymorphism rs2232365 had high PVLs and CD4+ T lymphocyte concentrations. [ABSTRACT FROM AUTHOR]
- Published
- 2023
- Full Text
- View/download PDF
3. Effect of FOXP3 gene variants on the immune-active HBV and inactive HBV phases
- Author
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Ersin Akgöllü
- Subjects
foxp3 ,rs2232365 ,rs3761548 ,immün-aktif hbv ,inaktif hbv ,immune-active hbv ,inactive hbv ,Medicine (General) ,R5-920 - Abstract
Purpose: FOXP3 gene rs2232365 A/G and the rs3761548 A/C polymorphisms were associated with immune system-related diseases such as Hepatitis B virus (HBV) infection. The function of Treg cells which act as immune-suppressors in the control of HBV-related liver inflammation may be affected by these polymorphisms. The aim of the present study was to evaluate the association between these polymorphisms with HBV infection phases. Materials and Methods: The current study examined the FOXP3 gene polymorphisms in 116 patients with immune-active hepatitis B phase and in 116 individuals with inactive hepatitis B phase by a real-time polymerase chain reaction (RT-PCR). Results: In females, the A allele and AA genotype of rs2232365 polymorphism was not statistically significant although it increased 1.28- and 1.67-fold immune-active HBV risk. Although the G allele of rs2232365 polymorphism increased 1.69-fold immune active HBV risk, it was not statistically significant in males, either. Likewise, the rs3761548 polymorphism could not reach a statistically significant value in males and females, either. Conclusion: This research is to demonstrate the relation between phases of HBV infection and polymorphisms of the FOXP3 gene in the Turkish population. The results of this study showed that there is no effect of these polymorphisms on the immune-active phase of HBV, even though it increased immune-active HBV.
- Published
- 2021
- Full Text
- View/download PDF
4. Novel association between FOXO3 rs2232365 polymorphism and late-onset preeclampsia: a case-control candidate genetic study
- Author
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Xuefeng Pan, Benjie Wei, Hong Wang, Lingyu Ma, Zhaoli Du, and Ying Chen
- Subjects
Preeclampsia ,Single nucleotide polymorphism ,rs2232365 ,BMI ,Lipid metabolism ,Gynecology and obstetrics ,RG1-991 - Abstract
Abstract Background Both 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. Methods This 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. Results The genotype (CC vs. TT + CT) distribution of rs2232365 revealed a significant association with LOPE (P = 0.004, odds ratio = 3.525 (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 CT/TT of rs2232365 was significantly correlated with increased TG/HDL levels in the LOPE group (p = 0.014). Conclusions The polymorphisms of rs2232365 are associated with the risk of LOPE and may modulate TG/HDL levels in pregnant women with LOPE.
- Published
- 2020
- Full Text
- View/download PDF
5. Effect of FOXP3 gene variants on the immune-active HBV and inactive HBV phases.
- Author
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Akgöllü, Ersin
- Subjects
- *
GENETIC variation , *HEPATITIS B virus , *REGULATORY T cells , *HEPATITIS B , *HEPATITIS , *SEROCONVERSION - Abstract
Purpose: FOXP3 gene rs2232365 A/G and the rs3761548 A/C polymorphisms were associated with immune system-related diseases such as Hepatitis B virus (HBV) infection. The function of Treg cells which act as immune-suppressors in the control of HBV-related liver inflammation may be affected by these polymorphisms. The aim of the present study was to evaluate the association between these polymorphisms with HBV infection phases. Materials and Methods: The current study examined the FOXP3 gene polymorphisms in 116 patients with immune-active hepatitis B phase and in 116 individuals with inactive hepatitis B phase by a real-time polymerase chain reaction (RT-PCR). Results: In females, the A allele and AA genotype of rs2232365 polymorphism was not statistically significant although it increased 1.28- and 1.67-fold immune-active HBV risk. Although the G allele of rs2232365 polymorphism increased 1.69-fold immune active HBV risk, it was not statistically significant in males, either. Likewise, the rs3761548 polymorphism could not reach a statistically significant value in males and females, either. Conclusion: This research is to demonstrate the relation between phases of HBV infection and polymorphisms of the FOXP3 gene in the Turkish population. The results of this study showed that there is no effect of these polymorphisms on the immune-active phase of HBV, even though it increased immune-active HBV. [ABSTRACT FROM AUTHOR]
- Published
- 2021
- Full Text
- View/download PDF
6. Association of rs2232365 polymorphism in promoter of FOXP3 gene with the incidence of rheumatoid arthritis in Iranian population
- Author
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Nasimeh Mahmoodi, Maryam Peymani, and Seyed Morteza Javadirad
- Subjects
Rheumatoid arthritis ,Polymorphism ,rs2232365 ,FOXP3 gene ,Iran ,Medicine ,Medicine (General) ,R5-920 - Abstract
Background and Objective: Rheumatoid arthritis (RA) is the most common systemic inflammatory disease. The FOXP3 gene is an agent that activates during the course of the disease and accumulates in the sinus arthritis of the inflamed joints, resulting in persistent inflammation and ultimately tissue damage. Regarding the role of polymorphism in promoter regions in gene expression, this study was conducted to determine the association of rs2232365 polymorphism in promoter of FOXP3 gene with the incidence of rheumatoid arthritis in Iranian population. Methods: In this case-control study, in order to investigate the relationship between FOXP3 gene rs2232365 polymorphism and rheumatoid arthritis, 77 patients and 67 healthy subjects were evaluated. The genotype of individuals for polymorphism rs2232365 was determined by PCR-RFLP method. Results: The highest genotypic frequency was related to CC genotype with 89% frequency in two healthy and diseased populations and no difference was observed in genotypic and allelic abundance in healthy and patient populations. Different genotypes of this polymorphism did not have a significant relation with the risk of RA, while it had a significant correlation with the level of CCP factor and CC genotype was associated with the progression of RA disease by increasing the level of CCP (P
- Published
- 2019
7. Novel association between FOXO3 rs2232365 polymorphism and late-onset preeclampsia: a case-control candidate genetic study.
- Author
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Pan, Xuefeng, Wei, Benjie, Wang, Hong, Ma, Lingyu, Du, Zhaoli, and Chen, Ying
- Subjects
- *
LIPID metabolism , *ISOHORMONES , *PREECLAMPSIA , *MATERNAL health services - Abstract
Background: Both 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.Methods: This 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.Results: The genotype (CC vs. TT + CT) distribution of rs2232365 revealed a significant association with LOPE (P = 0.004, odds ratio = 3.525 (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 CT/TT of rs2232365 was significantly correlated with increased TG/HDL levels in the LOPE group (p = 0.014).Conclusions: The polymorphisms of rs2232365 are associated with the risk of LOPE and may modulate TG/HDL levels in pregnant women with LOPE. [ABSTRACT FROM AUTHOR]- Published
- 2020
- Full Text
- View/download PDF
8. Evaluation of Forkhead Box P3 gene polymorphisms in chronic HBV infection.
- Author
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Akgöllü, Ersin
- Abstract
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 1.20‐ and 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. [ABSTRACT FROM AUTHOR]
- Published
- 2020
- Full Text
- View/download PDF
9. FOXP در پروموتر ژن 3 rs ارتباط پلیمورفیسم 2232365 با بروز بیماري آرتریتروماتوئید در جمعیتایرانی
- Author
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نسیمه محمودي, دکتر مریم پیمانی, and دکتر سید مرتضی جوادي راد
- Abstract
Background and Objective: Rheumatoid arthritis (RA) is the most common systemic inflammatory disease. The FOXP3 gene is an agent that activates during the course of the disease and accumulates in the sinus arthritis of the inflamed joints, resulting in persistent inflammation and ultimately tissue damage. Regarding the role of polymorphism in promoter regions in gene expression, this study was conducted to determine the association of rs2232365 polymorphism in promoter of FOXP3 gene with the incidence of rheumatoid arthritis in Iranian population. Methods: In this case-control study, in order to investigate the relationship between FOXP3 gene rs2232365 polymorphism and rheumatoid arthritis, 77 patients and 67 healthy subjects were evaluated. The genotype of individuals for polymorphism rs2232365 was determined by PCR-RFLP method. Results: The highest genotypic frequency was related to CC genotype with 89% frequency in two healthy and diseased populations and no difference was observed in genotypic and allelic abundance in healthy and patient populations. Different genotypes of this polymorphism did not have a significant relation with the risk of RA, while it had a significant correlation with the level of CCP factor and CC genotype was associated with the progression of RA disease by increasing the level of CCP (P<0.05). Conclusion: This study showed that there is no correlation between polymorphism rs2232365 in promoter of FOXP3 gene with Rheumatoid arthritis in Iranian population. [ABSTRACT FROM AUTHOR]
- Published
- 2019
10. FOXP3 gen varyantlarının immün-aktif HBV ve inaktif HBV fazları üzerindeki etkisi
- Author
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Ersin Akgöllü and Belirlenecek
- Subjects
inactive HBV ,Risk ,Regulatory T-Cells ,FOXP3 ,business.industry ,rs3761548 ,rs2232365 ,Virology ,FOXP3 gene ,Association ,immune-active HBV ,Immune system ,General Earth and Planetary Sciences ,Medicine ,Disease ,Polymorphism ,Natural-History ,business ,General Environmental Science - Abstract
Purpose: FOXP3 gene rs2232365 A/G and the rs3761548 A/C polymorphisms were associated with immune system-related diseases such as Hepatitis B virus (HBV) infection. The function of Treg cells which act as immune-suppressors in the control of HBV-related liver inflammation may be affected by these polymorphisms. The aim of the present study was to evaluate the association between these polymorphisms with HBV infection phases. Materials and Methods: The current study examined the FOXP3 gene polymorphisms in 116 patients with immune-active hepatitis B phase and in 116 individuals with inactive hepatitis B phase by a real-time polymerase chain reaction (RT-PCR). Results: In females, the A allele and AA genotype of rs2232365 polymorphism was not statistically significant although it increased 1.28- and 1.67-fold immune-active HBV risk. Although the G allele of rs2232365 polymorphism increased 1.69-fold immune active HBV risk, it was not statistically significant in males, either. Likewise, the rs3761548 polymorphism could not reach a statistically significant value in males and females, either. Conclusion: This research is to demonstrate the relation between phases of HBV infection and polymorphisms of the FOXP3 gene in the Turkish population. The results of this study showed that there is no effect of these polymorphisms on the immune-active phase of HBV, even though it increased immune-active HBV.
- Published
- 2021
11. Assessment of the Relationship Between Ulcerative Colitis and Forkhead Box P3 Polymorphisms
- Author
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Yakup Ülger, Ersin Akgollu, and Belirlenecek
- Subjects
FOXP3 variants ,Inflammation ,chemical and pharmacologic phenomena ,Polymorphism, Single Nucleotide ,Gene ,law.invention ,Association ,law ,Polymorphism (computer science) ,medicine ,Forkhead Box ,Humans ,Genetic Predisposition to Disease ,Disease ,Allele ,Transcription Factor Forkhead-Box-P3 ,Caucasian population ,Polymerase chain reaction ,Regulatory T-Cells ,business.industry ,Gastroenterology ,Variants ,FOXP3 ,Forkhead Transcription Factors ,medicine.disease ,rs3761548 ,Ulcerative colitis ,rs2232365 ,Defines ,Susceptibility ,Case-Control Studies ,Foxp3 ,Immunology ,Quality of Life ,Colitis, Ulcerative ,Original Article ,medicine.symptom ,business - Abstract
BACKGROUND/AIMS Ulcerative colitis (UC) is a chronic disease that does not have a definitive treatment and causes repetitive inflammation of the colon and impaired quality of life. The FOXP3 gene codes FOXP3 protein responsible for development and function of regulatory T (Treg) cells. The rs2232365 A/G and the rs3761548 A/C polymorphisms of FOXP3 gene were indicated to be associated with inflammation-related diseases such as ulcerative colitis. The effectiveness of Treg cells, which act as immune-suppressors in the control of inflammation, can be affected by these polymorphisms. The aim of the present study was to evaluate the association between these polymorphisms with ulcerative colitis. MATERIALS AND METHODS The current study researched the FOXP3 gene polymorphisms in 146 patients with UC and in 292 healthy individuals by a real-time polymerase chain reaction (RT-PCR). RESULTS The patients with rs2232365 G allele had a 1.44-fold higher UC risk than patients carrying other allele (P=0.013), and had significantly a 2.56-fold higher risk for extent of UC (P=0.001). Contrary, rs3761548 polymorphism didn't reach statistically significant in any analysis. CONCLUSION This is the first study to reveal the relationship of the rs2232365 and the rs3761548 polymorphisms with ulcerative colitis in Caucasian population. The rs2232365 has an important effect on the risk of UC. The current study suggests that these polymorphisms should be explored together with the FOXP3 expression and FOXP3+ Treg cell count in blood and colon tissue of UC patients to clarify the exact effect of FOXP3 polymorphisms on UC risk.
- Published
- 2021
12. Effect of circRNA_FOXO3 rs12196996 polymorphism and FOXO3 rs2232365 polymorphism on survival rate and severity of intensive care unit-acquired sepsis.
- Author
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Lv W, Wu Z, Lin Y, Jiang Y, Chen X, Zhu P, and Wang S
- Subjects
- Forkhead Box Protein O3 genetics, Forkhead Box Protein O3 metabolism, Humans, Intensive Care Units, RNA, Circular genetics, Survival Rate, MicroRNAs genetics, MicroRNAs metabolism, Sepsis genetics
- Abstract
The expression of circRNA_FOXO3 was found to be positively associated with the expression of Forkhead Box O3 (FOXO3), which is targeted and regulated by miR-23a. Polymorphisms in rs12196996 and rs2232365 have been reported in various diseases. In this study, we recruited intensive care unit (ICU)-acquired sepsis patients and grouped them according to their genotypes of rs12196996 and rs2232365. Quantitative real-time PCR was performed to analyze the expression of circRNA_FOXO3, FOXO3 mRNA, and miR-23a. ELISA was carried out to evaluate the abundance of cytokines and luciferase assay was used to explore the inhibitory role of miR-23a on circRNA_FOXO3 and FOXO3. Accordingly, we found that rs12196996 GG and rs2232365 AA were significantly correlated with prolonged survival of ICU-acquired sepsis patients. Rs12196996 GG and rs2232365 AA were also correlated with increased level of miR-23a, IL-10 and decreased level of TNF, IL-2, IFN, IL-6 and IL-1β in the peripheral blood cell samples of patients with ICU-acquired sepsis. The luciferase activity of wild-type (WT) circRNA_FOXO3 and FOXO3 were severely reduced by miR-23a. MiR-23a precursors could effectively suppress the expression of circRNA_FOXO3 and FOXO3 in the cells. Moreover, LPS-induced cell viability loss and dysregulation of cytokines were effectively restored by the knockdown of FOXO3 or circRNA_FOXO3 siRNA in the cells. This study revealed that the minor allele of rs12196996 polymorphism and rs2232365 polymorphism collaboratively contributed to the increased survival and suppressed severity of ICU-acquired sepsis.
- Published
- 2022
- Full Text
- View/download PDF
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