Association between Functional Polymorphisms of Foxp3 Gene and the Occurrence of Unexplained Recurrent Spontaneous Abortion in a Chinese Han Population

Wu, Zaigui; Zhang, You; Zhang, Cai; Li, Zhuyu; Su, Xiumei; Zhang, Xiuming; Li, Yinguang

doi:10.1155/2012/896458

Cited by 79 publications

(96 citation statements)

References 20 publications

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“…To our knowledge, our report is the first retrospective association study of rs2232365 with MS; however, the rs2232365 G allele was considered a risk factor for URSA. URSA in females with the G allele was higher compared to those carrying an A allele, which is also consistent with our results (26). Moreover, an investigation of Type I diabetes patients showed a greater occurrence of beta-cell failure in those carrying a G allele (27).…”

Section: Discussionsupporting

confidence: 92%

Functional Genetic Variants of FOXP3 and Risk of Multiple Sclerosis

Gholami

Darvish

Ahmadi

et al. 2016

Iran Red Crescent Med J

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Background: Multiple sclerosis (MS) is an autoimmune disease that affects the central nervous system (CNS). MS is one of the most common cause of neurological impairment at a young age with a complex etiology. The forkhead/winged helix (FOXP3) gene encodes a transcription factor that plays an important role in the working and progress of regulatory T cells. Loss of the FOXP3 function impairs the suppressor activity of regulatory T (T-reg) cells, which have been reported in MS patients. Objectives: To determine whether rs2232365 and rs3761548 polymorphisms of FOXP3 are associated with the risk of MS in an Iranian population. Patients and Methods:In this case-control study, a total of 384 samples consisting of 190 MS patients and 194 unrelated healthy subjects from the Iranian population were recruited between December 2014 and September 2015. The patients were diagnosed by a neurologist based on McDonald's criteria. The control group had no history or presence of autoimmune diseases. The polymorphisms were genotyped using tetra-ARMS PCR and PCR-restriction fragment length polymorphism (RFLP) techniques. Results: The Rs2232365 G allele was significantly associated with an increased risk of MS (P = 0.0068). In contrast, the allele and genotype frequencies of rs3761548 was not significantly different between the case and control groups (P > 0.05). Conclusions:The functional variant of the FOXP3, rs2232365 A/G, may be considered a substantial risk factor for MS.

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Section: Discussionsupporting

confidence: 92%

Functional Genetic Variants of FOXP3 and Risk of Multiple Sclerosis

Gholami

Darvish

Ahmadi

et al. 2016

Iran Red Crescent Med J

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Section: Discussionmentioning

confidence: 99%

“…GATA-3 is essential to Th2 immune response [39] and can only bind the FOXP3 promoter region if the A allele is present [40]. The GG genotype of rs2232365 was observed to decrease FOXP3 expression, affecting Treg cell function by disruption of the Th1/Th2 balance [40]. Conventionally, Th2-mediated immunity has been considered to favor tumor growth, by promoting angiogenesis as well inhibiting cell-mediated immunity and tumor cell killing [41, 42].…”

Section: Discussionmentioning

confidence: 99%

Wilms’ tumor susceptibility: possible involvement of FOXP3 and CXCL12 genes

et al. 2016

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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.

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“…Similar results were reported for IL-21 rs13143866 in the Tunisian study and for Foxp3 rs3761548 in the Chinese study. 23,31 Deviation from HWE can be caused by many factors. Assuming that there is no genotyping errors, the observed deviation could be due to the frequent non-random mating (high rate of consanguineous marriage), which is prevalent in our population, resulting in increased homozygosity.…”

Section: Discussionmentioning

confidence: 99%