Genetic variants and expression study of <i>FOXP3</i> gene in acute coronary syndrome in Iranian patients

Gholami, Milad; Esfandiary, Ali; Vatanparast, Masoumeh; Mirfakhraie, Reza; Hosseini, Mir Mohsen; Ghafouri‐Fard, Soudeh

doi:10.1002/cbf.3174

Cited by 9 publications

(4 citation statements)

References 19 publications

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“…The role of FOXP3 gene polymorphisms has been investigated in different disorders with an immunological background [ 20 ]. In Graves’ disease (GD), it was found that rs3761548 had no significant association with the disease in childhood and adolescence [ 7 ]; the same result was found in a study from the UK [ 35 ].…”

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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“…[21] Furthermore, Chu et al [22] suggested that the del/del genotype led to a higher expression of Foxp3 mRNA and may be associated with a reduced risk of chronic obstructive pulmonary disease and lung dysfunction in a cohort of male Chinese. These associations of rs5902434 with other diseases were also evaluated and significant associations were observed in unexplained recurrent pregnancy loss in Indian [23] and Chinese [24] women, pre-eclampsia in Chinese [25] and ACS in Iranian, [26] suggesting that rs5902434 (del/ATT) may confer a significant susceptibility to a number of diseases among the Asian population.…”

Section: Discussionmentioning

confidence: 99%

Association of Foxp3 promoter polymorphisms with susceptibility to endometrial cancer in the Chinese Han women

You

Wang

Zhang³

et al. 2018

Medicine

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To evaluate the association between Foxp3 gene polymorphisms (rs3761548 and rs5902434) and susceptibility to endometrial cancer (EC), we report a hospital case-control study involving 602 women, consisting of 269 patients with EC and 333 healthy controls. Genotyping was performed by polymerase chain reaction-restriction fragment length polymorphism. Our results suggest that the frequency of the A allele in rs3761548 in patients with EC was significantly lower than that in healthy controls (20.3% vs 26.4%, odds ratio [OR] 0.71, 95% confidence interval [CI]: 0.54-0.93, P = .012), while the heterozygous AC genotype showed a significant protective effect on EC in codominant, dominant, and overdominant models (adjusted OR 0.64, 95% CI: 0.45-0.91, P = .039; OR 0.65, 95% CI: 0.47-0.91, P = .011; OR 0.67, 95% CI: 0.47-0.94, P = .02, respectively), and AA genotype was more frequent in patients with cervical invasion (recessive model: OR 3.55, 95% CI: 1.10-11.44, P = .046). Moreover, ATT/ATT genotype (rs5902434) was conferred a lower risk of EC in the recessive model (adjusted OR 0.58, 95% CI: 0.35-0.96, P = .031). From the data generated, we conclude that Foxp3 promoter polymorphisms are associated with susceptibility to EC in Chinese Han women.

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“…FOXP3 is closely related to the function of regulatory T cells (Tregs), and reduced expression of FOXP3 and decreased Treg levels have been observed in CAD patients in recent studies [30–33]. A study implied that the FOXP3 gene may exert an influence on immune responses and result in unstable plaques in CAD patients [34].…”

Section: Discussionmentioning

confidence: 99%

Single-nucleotide polymorphism rs731384 is associated with plasma lipid levels and the risk of coronary artery disease in Chinese populations

Zhao

Zhang

et al. 2018

Bioscience Reports

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Aims: To investigate the relationship between the miR-130a polymorphism rs731384 and coronary artery disease (CAD) and to further explore the molecular mechanism of the pathogenesis of CAD, an observational single-center study was conducted. Method: A total of 876 subjects were recruited in the present study. Four milliliters of venous blood was drawn after 12 h of fasting to perform biochemical assays. CAD patients and controls were distinguished by coronary angiography. Rs731384 was genotyped on the Agena MassARRAY system according to the manufacturer’s user guide. Statistical analysis was conducted using SPSS 16.0 software. Results: The study found that the plasma levels of total cholesterol (TC) (P=0.006), low-density lipoprotein cholesterol (LDL-C) (P=0.030), apolipoprotein A (ApoA) (P=0.038), and apolipoprotein B (ApoB) (P=0.022) distributed differently in patients with various alleles. Additionally, the AA genotype of rs731384 was found to be a protective factor against CAD in a recessive model (AA:AG+GG, odds ratio (OR) = 0.408, 95% confidence interval (95% CI) = 0.171–0.973, P=0.043). A significant association was found between the gene–environment interaction and CAD risk. The AA genotype along with high-density lipoprotein cholesterol (HDL-C) level ≥ 1.325 mmol/l significantly decreased the CAD risk (AA:AG+GG, OR = 0.117, 95% CI = 0.023–0.588, P=0.009). Conclusion: The mutant AA genotype of rs731384 seems to be a protective factor against CAD, and rs731384 plays an important role in the human metabolism of plasma lipids.

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Genetic variants and expression study of FOXP3 gene in acute coronary syndrome in Iranian patients

Cited by 9 publications

References 19 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

Association of Foxp3 promoter polymorphisms with susceptibility to endometrial cancer in the Chinese Han women

Single-nucleotide polymorphism rs731384 is associated with plasma lipid levels and the risk of coronary artery disease in Chinese populations

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