Rs2232365 Polymorphism Research Articles

FOXP3 gene is associated with susceptibility to ischemic stroke in the Chinese population

AimImmunoinflammatory response plays an important role in the pathophysiological process of ischemic stroke (IS). Forkhead box P3 (FOXP3) is a master regulator for immune cells. Polymorphisms of FOXP3 gene might contribute to the susceptibility of IS. This study aimed to explore the association between FOXP3 gene polymorphisms (rs3761548 and rs2232365) and IS susceptibility in the Chinese Han population. MethodsPolymerase chain reaction and Sanger sequencing were used to detect the genotype of FOXP3 gene rs3761548 and rs2232365 polymorphisms. ResultsSmoking, diabetes mellitus (DM), and HBP histories, higher TG and HDL-C levels were more frequently observed in IS patients than in controls. In comparison with rs3761548 GG genotype, GT genotype (OR = 1.573, 95 %CI = 1.030–2.402; adjusted: OR = 1.736, 95 %CI = 1.070–2.817) and GT + TT vs. GG model (OR = 1.581, 95 %CI = 1.0449–2.382; adjusted: OR = 1.720, 95 %CI = 1.074–2.755) of rs3761548 polymorphism was significantly correlated with elevated ischemic stroke susceptibility both at prior and after adjusted by smoking, HBP, DM, TG and HDL-C. Recessive model of rs2232365 polymorphism could elevate the susceptibility of ischemic stroke (OR = 11.962, 95 %CI = 1.144–3.3363; adjusted: OR = 1.876, 95 %CI = 1.016–3.463). Besides, rs3761548 dominant model (OR = 2.757, 95 %CI = 1.379–5.552; adjusted: OR = 2.601, 95 %CI = 1.268–5.336) and rs2232365 recessive model (OR = 3.103, 95 %CI = 1.463–6.583; adjusted: OR = 3.545, 95 %CI = 1.600–7.855) were related to the severity of ischemic stroke. ConclusionFOXP3 gene rs3761548 and rs2232365 polymorphisms were risk factors for susceptibility and severity of IS.

The effect of FOXP3 genetic polymorphisms on correlations with hepatitis B virus-hepatocellular carcinoma: A case-control study

BackgroundPrevious studies have reported that transcription factor forkhead box protein 3 (FOXP3) polymorphisms are correlated with the progress of some cancers, but the relationships between the FOXP3 polymorphisms and hepatocellular carcinoma (HCC) risk remain unclear. MethodGenotypes were detected in156 hepatitis B virus (HBV)-HCC patients, 109 HBV-liver cirrhosis (LC) patients, 125 chronic hepatitis B (CHB) patients, and 188 healthy controls. The FOXP3 rs3761547 and rs3761548 polymorphisms were genotyped by polymerase chain reaction (PCR) combined with restriction fragment length polymorphism, and the rs2232365 polymorphism was genotyped using PCR with sequence-specific primers. ResultsWe did not obtain any significant results with the FOXP3 rs3761547, rs3761548, and rs2232365 polymorphisms in groups of patients compared to healthy controls (all p > 0.05), no matter the overall group or subgroup. ConclusionsOur findings suggest that the FOXP3 polymorphisms at rs3761547, rs3761548, and rs2232365 were not related to HBV-HCC risk in the Chinese population.

The forkhead box protein P3 gene rs3761548 promoter polymorphism confers a genetic contribution to the risk of preeclampsia: A systematic review and meta-analysis

Various studies have investigated the risk of preeclampsia with the forkhead box protein P3 (FOXP3) gene rs2232365 and rs3761548 polymorphisms. However, the results remained contradictory. A comprehensive literature search was conducted using the Cochrane Library, PubMed, and Web of Science (up to Oct 11, 2021). Meta-analysis was carried out in the R language environment for statistical computing and graphics. A fixed-effect or random-effects model was used according to the statistical significance of heterogeneity among included studies. The pooled odds ratios and corresponding 95% confidence intervals were calculated to estimate the strength of the effect. For the rs2232365 polymorphism, statistical significance was detected neither in the overall population nor among the East Asian and West Asian subgroups. However, for rs3761548, the summarized statistics revealed a significant association between the C allele carriage and preeclampsia risk in the homozygote, heterozygote, and dominant models. The further stratified analysis found this effect might be specific to West-South Asian ethnic subgroups. To sum up, this meta-analysis showed that the FOXP3 rs3761548 polymorphism was significantly associated with preeclampsia susceptibility, and it had a deleterious effect especially in the West-South Asian population. In contrast, rs2232365 may serve as neither a protective nor a risk factor for preeclampsia onset.

The FOXP3-924 A/G Single Nucleotide Polymorphism May Be Associated with Predictive Factors for Human T Lymphotropic Virus 1 Associated Myelopathy.

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.

Effect of circRNA_FOXO3 rs12196996 polymorphism and FOXO3 rs2232365 polymorphism on survival rate and severity of intensive care unit-acquired sepsis

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.

Gene polymorphism associated with FOXP3, CTLA-4 and susceptibility to pre-eclampsia: a meta-analysis and trial sequential analysis

Previous studies have detected the correlation of polymorphisms in regulatory T cells associated genes FOXP3 and CTLA-4 with pre-eclampsia (PE) risk, but the results are inconsistent among studies. Eligible studies were retrieved in several database. Odds ratios (ORs) with 95% confidence intervals (CIs) were utilised to evaluate the relationship between FOXP3 rs3761548, FOXP3 rs2232365, CTLA-4 rs231775 polymorphisms, and PE susceptibility in the genetic models. The subgroup analysis and trial sequential analysis were performed. Twelve studies with a total of 4658 participants were included. There was a statistically significant association between FOXP3 rs3761548 polymorphism and PE within the recessive model in Asian (OR = 0.54, 95% CI = 0.34–0.86). Trial sequential analysis indicated sufficient proof of such association in the Asian population. This meta-analysis provides sufficient statistical evidence indicating an association between FOXP3 rs3761548 polymorphism and PE risk in Asian. IMPACT STATEMENT What is already known on this subject? FOXP3 and CTLA4 are markers of regulatory T cells which play a crucial role during a preeclamptic pregnancy. What do the results of this study add? Eleven studies with a total of 4658 participants were included. There was a statistically significant association between FOXP3 rs3761548 polymorphism and pre-eclampsia (PE) within the recessive model in Asian (OR = 0.54, 95% CI = 0.34–0.86). Trial sequential analysis indicated sufficient proof of such association in the Asian population. However, there was no enough evidence could proof significant association between FOXP3 rs2232365 or CTLA-4 rs231775 polymorphism and PE. What are the implications of these findings for clinical practice and/or further research? This meta-analysis provides sufficient statistical evidence indicating an association between FOXP3 rs3761548 polymorphism and PE risk in Asian. The findings in this study may provide a basis for the further study on FOXP3 rs3761548 polymorphism in future research.

FOXP3 gen varyantlarının immün-aktif HBV ve inaktif HBV fazları üzerindeki etkisi

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.

Novel association between FOXO3 rs2232365 polymorphism and late-onset preeclampsia: a case-control candidate genetic study

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.ResultsThe 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).ConclusionsThe polymorphisms of rs2232365 are associated with the risk of LOPE and may modulate TG/HDL levels in pregnant women with LOPE.

Sex and FOXP3 gene rs2232365 polymorphism may be associated with the clinical and pathological aspects of chronic viral diseases

BackgroundThe forkhead box protein 3 (FOXP3) transcription factor is one of the main markers of immunological suppression in different pathological profiles, and the presence of polymorphic variants may alter the gene expression of this factor. Despite descriptions of an association between the presence of the rs2232365 polymorphism and chronic diseases, the role of the sex variant in this context has not yet been elucidated, as the FOXP3 gene is located on the human sex chromosome X.ResultsTo contribute to this topic, 323 women and 373 men were enrolled in the study, of which 101 were diagnosed with chronic viral liver diseases (39 women and 62 men), 67 with HTLV-1 infection (44 women and 23 men), 230 with coronary artery disease (91 women and 139 men) and 298 healthy and uninfected blood donors (149 women and men). They were genotyped for the rs2232365 polymorphism. The rs2232365 polymorphism was associated with clinical and pathological aspects and biomarkers of viral infections only in men, with functional differences between different infections.ConclusionsA relationship is suggested between sex and FOXP3 rs2232365 polymorphism, resulting in different biological repercussions.

Polymorphisms in the TGFB1 and FOXP3 genes are associated with the presence of antinuclear antibodies in chronic hepatitis C

Chronic infection with Hepacivirus C (HCV) can lead to the occurrence of antinuclear antibodies (ANAs) and changes in cytokine profiles that can be similar to autoimmune diseases. The aim of the study was to identify polymorphisms in important mediators of the immune response in association with ANAs, which could contribute to the development of autoimmunity in hepatitis C. The study included 87 patients with chronic hepatitis C who were evaluated for the presence of ANA (indirect immunofluorescence) and for polymorphisms in the FOXP3, IFNG, IL6, IL8, IL10, MBL2, CRP, TGFΒ1 and TNFA genes (real-time PCR). Of the patients evaluated, 17 (19.54%) had ANA reactivity. The G allele of the FOXP3 rs2232365 polymorphism was more frequent in ANA-positive women (p = 0.0231; OR = 3,285). The C allele of the TGFΒ1 rs1800469 polymorphism was associated with ANA production (p = 0.0169; OR = 2.88). The results suggest that polymorphisms in genes related to immunological regulation may be associated with mechanisms that lead to the emergence of autoantibodies in the context of chronic Hepacivirus C infection.

CORRELATION BETWEEN POLYMORPHISMS OF FOXP3 T-REGULATORY PROMOTOR GENE WITH TGF-β IN PATIENTS WITH GRAVES’ DISEASE

Objective: The aim of this study is to prove that there are Forkhead Box P3 (FOXP3) T-regulator promoter polymorphisms in Graves’ disease and to analyze the association between FOXP3 T-regulator promoter polymorphisms with transforming growth factor (TGF)-β levels.
 Methods: This study was an observational study with cross-sectional comparative study design. Consecutive sampling was conducted in patients with Graves’ disease who came to the outpatient clinic and treated in Dr. M. Djamil Hospital, Padang. Blood sampling was performed on 30 Graves’ subjects and 30 control subjects based on inclusion and exclusion criteria. DNA isolation, primary construction, and polymorphism identification by polymerase chain reaction method and blood sample examination by enzyme-linked immunosorbent assay techniques method for TGF-β examination were performed in this study.
 Results: The results of this study obtained the most age of patients with Graves’ disease is 30–40 years with the female gender. Graves’ patient group was found to have 86.7% of single nucleotide polymorphisms (SNP) rs3761548 polymorphism, and 61.3% had SNP rs2232365 polymorphism followed by 26.7% polymorphism of SNP rs3761547 and rs3761549, and no SNP rs2232364 polymorphism was found. In Graves’ group, the mean value of TGF-β was 1030.01±277.64 ng/ml, significantly higher than the control group. Statistical analysis showed a significant relationship between polymorphism of the FOXP3 promoter gene and TGF-β level with p<0.05.
 Conclusion: This study proves that there are polymorphisms of the FOXP3 promoter gene in Graves’ patients, especially SNP rs3761548 and rs2232365. The polymorphism of the FOXP3 promoter gene has a significant association with TGF-β levels.

Association of FOXP3 gene polymorphisms with risk of preeclampsia in Lur population of Iran

Introduction: Regulatory T lymphocytes have an effective role in induction of immune tolerance and angiogenesis during pregnancy. Differentiation and replication of these lymphocytes from other T cells is controlled by FOXP3 transcriptional factor. FOXP3 gene is polymorphic. Objectives: This study was designed to investigate the role FOXP3 common polymorphisms in susceptibility to preeclampsia in Lur populations of Lorestan province of Iran. Patients and Methods: This study was conducted on three polymorphisms rs2232365 A/G, rs3761548 C/A and rs5902434 del/ATT using polymerase chain reaction with sequence specific primers (PCR SSP). A total of 100 participants were subjected to be studied. Data analysis was done using Fisher’s exact test and multivariate logistic regression. Results: In rs2232365 polymorphism, AA genotype was a risk factor (P=0.002) and AG genotype was a protecting factor (P<0.001). In polymorphism of rs3761548, CA genotype was a risk factor (P=0.036) and AA genotype was a protecting factor (P=0.015). In polymorphism rs5902434, del/del genotype was a risk factor (P=0.013) and del/ATT genotype was a protecting factor (P<0.001). After adjusting the effects of genotypes, CA genotype of rs3761584 polymorphism was considered as an attributable risk factor (P=0.040; odds ratio [OR] =4.19). Conclusion: The present population showed a unique association for the role of FOXP3 polymorphism in susceptibility to preeclampsia in comparison to previous studies.

The role of two common FOXP3 gene promoter polymorphisms in preeclampsia in a Turkish population: a case–control study

Preeclampsia (PE), which occurs in approximately 5% of pregnancies worldwide and constitutes clinically serious complications in 2–3%, is one of the leading causes of maternal and prenatal morbidity and mortality. Recent studies report that regulatory T (Treg) cells, which act as immunosuppressant, are associated with PE. It is clearly defined that FOXP3/Scurfin (Forkhead Box P3) is involved in the development and function of Tregs. However, there are different conclusions regarding the relationship between PE and FOXP3 gene polymorphisms for different populations. For this reason, in this study we investigate the association between FOXP3 gene promoter region polymorphisms and PE in a Turkish population 500 PE patients and 500 healthy pregnant women. Blood samples taken from pregnant women were studied by PCR-RFLP method. As a result, rs2232365 polymorphism was significantly associated with disease (p < .0001) while no significant association was found between rs3761548 polymorphism and the disease (p = .17). Based on these results, it is though that FOXP3 rs2232365 polymorphism may be predisposed to PE development in terms of Turkish population. However, further and functional studies are needed in terms of other polymorphisms and mutations.IMPACT STATEMENTWhat is already known on this subject? A number of recent publications suggest that Tregs may play a role in the pathogenesis of PE. It is known that a stable and high FOXP3 expression is required to maintain the suppressive T cell function of Tregs. Down regulation of FOXP3 in PE has been reported in many previous studies, but the mechanism is still uncertain.What do the results of this study add? Our study has examined two FOXP3 promoter region polymorphisms in terms of Turkish population for the first time. Rs2232365 polymorphism associated with the disease in heterozygous genotype.What are the implications of these findings for clinical practice and/or further research? It has been shown that FOXP3 gene promoter region polymorphisms may be associated with PE for Turkish population. Our results can be a guide for more detailed statistical evaluations and functional studies.

Meta-analysis of FOXP3 gene rs3761548 and rs2232365 polymorphism and multiple sclerosis susceptibility.

BackgroundMultiple sclerosis (MS) is a common autoimmune disease of the central nervous system (CNS), and is associated with genetic factors. FOXP3 gene polymorphism has been reported as the risk factor for MS, however, previous studies have showed conflicting results. The purpose of this study is to investigate the association between FOXP3 gene polymorphism and the susceptibility to MS.MethodsPubmed, Embase, library of Cochrane, and Web of Science were used to search the eligible articles from January 1980 up to October 2018. The odds ratio (ORs) and its 95% confidence intervals (CI) were used to evaluate the strength of association. Allele model, homozygote model, heterozygote model, dominant model, and recessive model were used to evaluate the association between FOXP3 gene polymorphism and MS.ResultsA total of 5 studies contained 1276 MS patients and 1447 controls (for rs3761548) and 600 MS patients and 640 controls (for rs2232365) were enrolled in this meta-analysis. The association showed significant differences in allele and dominant model for rs3761548 polymorphism. In addition, a clear tendency to significance was detected in homozygote and recessive model for rs3761548 (P = .052). Subgroup analysis indicated a significant risk of MS in all genotype models but heterozygotes in Asians.ConclusionFOXP3 gene polymorphism rs3761548 was associated with a higher MS risk, especially in Asians. This conclusion needs to be validated in more large samples and multiracial studies.Level of evidenceLevel III diagnostic study.

Association between Multiple Sclerosis and FOXP3 Gene Promoter Region Mutations

Regulatory T-Cells (Treg Cells), as one of the immune system components, have been highly effective in the autoimmune diseases prevention, particularly multiple sclerosis (MS). MS is a chronic inflammatory and autoimmune disease characterized by immune infiltration and inflammation in the central nervous system. Regulatory T (Treg) cells play an important role in the control of autoimmunity. Expression and action of the transcription factor FOXP3 controls the development and function of Treg cell. The aim of this study was to investigate the association between MS and FOXP3 gene promoter region polymorphisms rs2232365 (-924A/G) and rs3761548 (-3279A/C) in a Turkish population. In this case-control study we investigated these polymorphisms in 80 MS patients and 80 healthy controls using PCR-RFLP methods. Results of our study showed that while there is significant correlation between MS and FOXP3 rs3761548 polymorphism (p=0.031), FOXP3 rs2232365 polymorphism, has not been found to be associated with the disease (p=0.31). As FOXP3 gene is one of the most important genes in the regulation of the immune cells, it may be concluded that the expression of this gene is important in MS patients. As this SNP is located in the promoter region of the gene, it may affect the expression level of FOXP3 protein.

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

Functional polymorphisms located in FOXP3 intron 1 was recently found to be associated with rheumatoid arthritis (RA). Although RA is an autoimmune disease, there is supporting evidence that activated maladaptive responses including pro-inflammatory pathways play roles in osteoarthritis (OA), similar to RA. The aim of this study was to explore the relationship between rs2232365 (-924A/G) and rs3761548 (-3279A/C) polymorphisms as well as possible changes in the 600 bp promoter region of FOXP3 and knee OA. Patients with primary knee OA (n = 300) and healthy individuals (n = 300) were examined for rs3761548 and rs2232365 FOXP3 gene polymorphisms by the polymerase chain reaction-restriction fragment-length polymorphism method. The 600 bp promoter region (between -500 and +100) of the gene was also sequenced with direct sequencing in 50 knee OA patients and 50 healthy individuals. There were no sequence variants in the promoter region tested both in OA patients and healthy controls. The SNP rs2232365 showed no association with OA susceptibility and severity and the results of other genetic models were also nonsignificant. On the other hand, rs3761548 AC (P = 0.003), AA + CC (P = 0.0014) as well as AC + AA (P = 0.40) genotypes showed association with Grade 4 knee OA patients. Our findings indicated that the association between FOXP3 rs2232365 polymorphism and knee OA tended to yield negative results but the FOXP3 rs3761548 C allele was associated with elevated risk of OA in Grade 4 knee OA patients in a Turkish population.

Wilms' tumor susceptibility: possible involvement of FOXP3 and CXCL12 genes.

BackgroundWilms’ tumor is an embryonal neoplasm of the kidney that accounts for approximately 6 % of all childhood tumors. The chemokine CXCL12 (C-X-C chemokine ligand 12) and its ligand CXCR4 (C-X-C chemokine receptor type 4) are involved in the development of several organs, including the kidney, and are also associated with tumor growth and metastasis. FOXP3 (forkhead transcription factor 3) was initially described as a marker for regulatory T cells; however, its expression in several types of tumor cells has already been described and may have prognostic significance. The aim of the present study was to analyze rs3761548 and rs2232365 FOXP3 polymorphisms, as well as evaluate rs1801157 CXCL12 polymorphism in Wilms’ tumor samples.MethodsPolymorphisms were evaluated in 32 patients and 78 neoplasia-free controls. Genotypes of rs1801157 were determined using PCR-restriction fragment length polymorphism (PCR-RFLP) method, and genotypes of rs2232365 and rs3761548 were determined using allele-specific PCR (AS-PCR).ResultsThe case-control study indicated a significant association for allele A carriers of rs1801157 polymorphism in relation to Wilms’ tumor susceptibility (OR = 5.261; 95 % CI 2.156 to 12.84; p = 0.0002). The opposite was observed in male carriers of G allele for rs2232365 polymorphism (OR 0.1164; 95 % CI 0.0227 to 0.5954; p = 0.0091) or when male and female subjects were analyzed (OR = 0.1304; 95 % CI 0.05013 to 0.3394; p < 0.0001).ConclusionsAll in all, these markers may contribute to this neoplasia susceptibility and progression; however, further studies are needed to real clarify their role in Wilms’ tumor pathogenesis.

FOXP3 is a promising and potential candidate gene in generalised vitiligo susceptibility.

FOXP3 is a promising and potential candidate gene in generalised vitiligo susceptibility.