The FOXP3 rs3761547 Gene Polymorphism in Multiple Sclerosis as a Male-Specific Risk Factor

Wawrusiewicz‐Kurylonek, Natalia; Chorąży, Monika; Posmyk, Renata; Zajkowska, Olga; Zajkowska, Agata; Krętowski, Adam; Tarasiuk, Joanna; Kochanowicz, Jan; Kułakowska, Alina

doi:10.1007/s12017-018-8512-z

Cited by 21 publications

(12 citation statements)

References 45 publications

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“…A study from Poland found no association between rs3761548 and rs3761549 gene polymorphisms and multiple sclerosis (MS) [ 48 ]. The same result was concluded in the Slovak population for rs3761548 [ 17 ] and also from the genome-wide association study (GWAS) on the Caucasian population [ 3 ].…”

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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“…Jafarzadeh et al [ 42 ] and Eftekharian et al [ 43 ] found an association between rs3761548 FOXP3 gene and MS in an Iranian population. Recently, Wawrusiewicz-Kurylonek et al [ 24 ] investigated the association of three SNPs of FOXP3, including the rs3761548 and the rs3761547, on MS risk in a Polish population. The authors found a gender-specific relation between rs3761547 FOXP3 gene polymorphism and MS susceptibility.…”

Section: Discussionmentioning

confidence: 99%

“…We selected two SNPs in the FOXP3 gene, namely rs3761548 and rs3761547, and a SNP in the GATA3 gene, namely rs3824662, based on evidence in the literature [ 23 , 24 ]. Characteristics of all selected SNPs are shown in Table 1 .…”

Section: Methodsmentioning

confidence: 99%

FOXP3 and GATA3 Polymorphisms, Vitamin D3 and Multiple Sclerosis

et al. 2021

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Background: Regulatory T cells (Tregs) alterations have been implicated in the pathogenesis of Multiple Sclerosis (MS). Recently, a crucial role of the X-Linked Forkhead Box P3 (FoxP3) for the development and the stability of Tregs has emerged, and FOXP3 gene polymorphisms have been associated with the susceptibility to autoimmune diseases. The expression of Foxp3 in Tregs is regulated by the transcription factor GATA binding-protein 3 (GATA3) and vitamin D3. The aim of this retrospective case-control study was to investigate the potential association between FOXP3 and GATA3 genetic variants, Vitamin D3, and MS risk. Methods: We analyzed two polymorphisms in the FOXP3 gene (rs3761547 and rs3761548) and a polymorphism in the GATA3 gene (rs3824662) in 106 MS patients and 113 healthy controls. Serum 25(OH)D3 was also measured in all participants. Results: No statistically significant genotypic and allelic differences were found in the distribution of FOXP3 rs3761547 and rs3761548, or GATA3 rs3824662 in the MS patients, compared with controls. Patients that were homozygous for rs3761547 had lower 25(OH)D3 levels. Conclusions: Our findings did not show any association among FOXP3 and GATA3 SNPs, vitamin D3, and MS susceptibility.

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“…The suppressor function of Treg cells could be impaired due to the deficiency of the FOXP3 gene. Many studies have reported that FOXP3 gene single nucleotide polymorphisms (SNPs), particularly the regulatory polymorphisms located in the promoter regions, are associated with several autoimmune diseases, such as allergic rhinitis, type I diabetes (TID), systemic lupus erythematosus (SLE), multiple sclerosis (MS), and autoimmune thyroid diseases (AITD) 12‐16 . Three loci −6054 del/ATT (rs5902434), −3279 A/C (rs3761548), and −924 A/G (rs2232365) are located in or near the transcription initiation and cis‐acting elements of FOXP3 gene.…”

Section: Introductionmentioning

confidence: 99%

Association of FOXP3 gene polymorphisms with chronic immune thrombocytopenia in a Chinese Han population

Zhang

et al. 2021

Int J Lab Hematology

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Introduction Forkhead box P3 (Foxp3) is encoded by the human FOXP3, an X‐chromosome gene, and is a transcription factor that regulates regulatory T‐cell (Treg) development and function. FOXP3 gene polymorphisms have recently been investigated as candidate risk factors in various autoimmune diseases. This study aimed to investigate the possible influence of FOXP3 gene polymorphisms on genetic predisposition to chronic immune thrombocytopenia (ITP). Methods The study cohort comprised 329 chronic ITP patients and 279 healthy controls, who were genotyped for three polymorphisms in the promoter region of FOXP3 gene, −6054 del/ATT, −3279 A/C, and −924 A/G. Results Of the three polymorphisms identified, the −3279 AA genotype was more frequent in female patients with chronic ITP than in female controls (P = .035, OR 0.434, 95% CI 0.223‐0.846), and the −3279 A carrier was shown to be associated with the risk of chronic ITP in female cohort (P = .003, OR 0.610, 95% CI 0.437‐0.851). Furthermore, the female patients with chronic ITP had remarkably more frequent haplotype −6054 del/−3279 A/−924 A (P = .027, OR 3.584, 95% CI 1.148‐11.186) and less haplotype −6054 del/−3279 C/−924 G (P = .039, OR 0.445, 95% CI 0.204‐0.973) in comparison with female healthy controls. Although there were no significant differences in the male cohort, when the combined alleles and haplotypes of the two genders were analyzed, the results obtained were similar to those of females. Conclusion According to our data, the −3279 A/C polymorphism of FOXP3 gene may be associated with the susceptibility to chronic ITP in Chinese Han population.

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The FOXP3 rs3761547 Gene Polymorphism in Multiple Sclerosis as a Male-Specific Risk Factor

Cited by 21 publications

References 45 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

FOXP3 and GATA3 Polymorphisms, Vitamin D3 and Multiple Sclerosis

Association of FOXP3 gene polymorphisms with chronic immune thrombocytopenia in a Chinese Han population

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