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

Jahan, Parveen; Tippisetty, Surekha; Komaravalli, Prasanna Latha

doi:10.3389/fgene.2015.00249

Cited by 14 publications

(10 citation statements)

References 30 publications

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“…AA genotype of rs3761548 leads to loss of binding sites for TFs E47 and C-Myb [ 34 ]. Moreover, the GG genotype for rs2232365 and TT genotype for rs3761549 lead to loss of binding site for GATA3, activating enhancer-binding protein 4 (AP4) TFs, respectively [ 26 , 33 ]. The affection of FOXP3 protein in quality or quantity leads to Treg cell dysfunction and impairs the balance between Th1 and Th2 cells, disturbing the immune system’s balance toward the development of immunological and autoimmune diseases [ 41 ].…”

Section: Discussionmentioning

confidence: 99%

Analysis of selected polymorphisms in FOXP3 gene in a cohort of Egyptian patients with schizophrenia

Mostafa

Fathy

Elwasify

et al. 2022

Journal of Genetic Engineering and Biotechnology

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Background Schizophrenia is a chronic mental disorder with different symptoms. The environmental and genetic factors are suggested to be the etiology of schizophrenia. However, the exact cause and pathogenesis of schizophrenia are still unclear. Different studies suggested that the immune system may have a role in schizophrenia. A genetic study found a relation between the disease and the HLA region on the sixth chromosome. Regulatory T cells (Treg) have a role in the regulation of immune response, especially the balance between TH1 and TH2 cells. The FOXP3 protein is a key regulator for Treg cell’s functions. FOXP3 is a transcriptional factor, and its gene is present on the short arm of the X chromosome. The selected SNPs present in the promoter region which act as binding sites for transcriptional factors. This study investigated FOXP3 gene polymorphisms (rs3761548, rs3761549, and rs2232365) in Egyptian patients with schizophrenia. There are no previous studies about the association of FOXP3 gene polymorphisms with schizophrenia. The three selected single-nucleotide polymorphisms (SNPs) were investigated using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) for 125 schizophrenia patients and 160 healthy controls. The Positive and Negative Syndrome Scale (PANSS) was used to evaluate patients with schizophrenia. Results No significant associations were found between schizophrenia patients and healthy controls for the alleles and genotypes of the selected SNPs (P-value > 0.05). However, a significant association with ACC and ATC haplotypes was detected (P-value 0.001). No significant association was detected between the PANSS score and any of the studied SNPs. Conclusion The ATC haplotype of rs2232365, rs3761549, and rs3761548 could be considered a risk factor for schizophrenia in Egyptian patients.

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Section: Discussionmentioning

confidence: 99%

Analysis of selected polymorphisms in FOXP3 gene in a cohort of Egyptian patients with schizophrenia

Mostafa

Fathy

Elwasify

et al. 2022

Journal of Genetic Engineering and Biotechnology

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“…In addition, a recent study has shown that the gene for Forkhead box protein 3 (FOXP3), which is important for cellular proliferation and functions of the CD4+ and CD25+ regulatory T cells, play a role in the pathogenesis of vitiligo as an immunoregulator (Jahan P, 2015). In another study, cytotoxic T lymphocyte antigen-4 (CTLA-4) gene polymorphism was not found to contribute to the pathogenesis of vitiligo (Liang J, et al 2015).…”

Section: Discussionmentioning

confidence: 99%

Research Article IGF2BP2 gene polymorphism in the pathogenesis of vitiligo

Kargün¹,

Demir²,

Çiçek³

et al. 2017

Genet. Mol. Res.

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Vitiligo is a disorder of pigmentation presenting with loss of melanocytes in the epidermis and hair follicles. The gene for insulin-like growth factor binding protein 2 (IGF2BP2) is located on the third chromosome and it plays role in growth, development, cellular differentiation, and metabolism. In the present study, we aimed to investigate the rs1470579 and rs4402960 gene polymorphisms of IGF2BP2 in the patients with vitiligo, which were confirmed to have a relationship with insulin resistance. The study was conducted with a total of 100 patients with vitiligo between the ages of 18 to 60 years and 100 healthy controls. Gene polymorphism was investigated in deoxyribonucleic acid (DNA) samples isolated from blood cells using the real-time polymerase chain reaction (PCR) method. There was no statistically significant difference in the genotype and allele frequencies of the rs1470579 and rs4402960 polymorphisms on IGF2BP2 between the groups (p>0.05). Our study results show that the IGF2BP2 gene has no significant role in the pathogenesis of vitiligo.

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“…GZMB also have a role to play in cleaving melanocyte proteins that constitute vitiligo auto-antigens activating autoantigens that initiate and propagate autoimmunity directed against melanocytes (Darrah and Rosen 2010). FOXP3, the master regulator of Treg cells, have a vital role in maintaining immune balance and its alteration triggers autoimmune diseases including vitiligo (Jahan et al 2015). TNF downregulates MITF affecting melanocyte development and proliferation, and ultimately affecting melanogenesis.…”

Section: Discussionmentioning

confidence: 99%

DermaGene and VitmiRS: a comprehensive systems analysis of genetic dermatological disorders

et al. 2018

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

Cited by 14 publications

References 30 publications

Analysis of selected polymorphisms in FOXP3 gene in a cohort of Egyptian patients with schizophrenia

Analysis of selected polymorphisms in FOXP3 gene in a cohort of Egyptian patients with schizophrenia

Research Article IGF2BP2 gene polymorphism in the pathogenesis of vitiligo

DermaGene and VitmiRS: a comprehensive systems analysis of genetic dermatological disorders

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