The potential association of tumor necrosis factor-βeta (252 G/A) cytokine gene polymorphism with immune thrombocytopenic purpura among Egyptian children

Morgan, Dalia Saber; Afifi, Rasha Abdel-RaoufAbdel-Aziz; Elhoseiny, Shereen Mohamed; Amin, Dalia Gamil; Ibrahim, Sara Yahia Gaber

doi:10.1080/10245332.2017.1386429

Cited by 6 publications

(7 citation statements)

References 23 publications

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“…Our work revealed no significant difference in the frequencies of TNF-β (+ 252 A/G) genotypes between patients and controls. This is in agreement with other reports [ 18 , 21 ] . However, two studies reported higher frequency of A allele in ITP patients than controls [ 4 , 17 ] .…”

Section: Discussionsupporting

confidence: 94%

“…Our study showed that the probability of having a complete response to treatment was highest among the wild A/A genotype of TNF-β (+ 252 A/G) and the least among the heterozygous A/G genotype. In contrast, two studies did not show any effect of TNF-β (+ 252 A/G) gene polymorphisms on treatment response [ 4 , 21 ] . A possible explanation may be differences in patients’ sample size, age group, disease stage and ethnic or geographic background.…”

Section: Discussionmentioning

confidence: 99%

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Combined tumor necrosis factor-α (−308 G/A) and tumor necrosis factor-β (+ 252 A/G) nucleotide polymorphisms and chronicity in Egyptian children with immune thrombocytopenia

et al. 2023

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Background Primary immune thrombocytopenia (ITP) is a common autoimmune disorder. Secretion of TNF-α, TNF-β and IFN-γ plays a major role in the pathogenesis of ITP. Objective This cross-sectional study aimed to detect TNF-α (−308 G/A) and TNF-β (+ 252 A/G) gene polymorphism in a cohort of Egyptian children with chronic ITP (cITP) to clarify their possible association with progression to chronic disease. Methods The study included 80 Egyptian cITP patients and 100 unrelated age- and sex-matched controls. Genotyping was performed using polymerase chain reaction–restriction fragment length polymorphism (PCR–RFLP). Results Patients with TNF-α homozygous (A/A) genotype had significantly higher mean age, longer disease duration and lower platelet counts (p values 0.005, 0.024 and 0.008, respectively). TNF-α wild (G/G) genotype was significantly more frequent among responders (p = 0.049). Complete response was more frequent among wild (A/A) TNF-β genotype patients (p = 0.011), and platelet count was significantly lower among homozygous (G/G) genotype (p = 0.018) patients. Combined polymorphisms were strongly associated with susceptibility to chronic ITP. Conclusion Homozygosity in either gene might contribute to a worse course of disease, increased severity and poor response to therapy. Patients expressing combined polymorphisms are more prone to progression to chronic disease, severe thrombocytopenia and longer disease duration.

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Section: Discussionsupporting

confidence: 94%

Section: Discussionmentioning

confidence: 99%

Combined tumor necrosis factor-α (−308 G/A) and tumor necrosis factor-β (+ 252 A/G) nucleotide polymorphisms and chronicity in Egyptian children with immune thrombocytopenia

et al. 2023

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“…49,50 The presence of these polymorphisms can disturb the tolerance of the immune system to its antigens. 51,52 We discuss several studies on IL-10 polymorphisms in ►Table 7.…”

Section: Discussionmentioning

confidence: 99%

rs1800890 Polymorphism of IL-10 and Susceptibility to Idiopathic Thrombocytopenic Purpura

Zeylabi,

Jalali,

Kaydani

et al. 2023

J Pediatr Genet

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Immune thrombocytopenic purpura (ITP) is an immune bleeding disorder that is reported in approximately 2 out of every 100,000 adults with a mean age of 50 years. Several factors such as various genetic backgrounds are associated with the pathogenesis of ITP. Interleukin (IL)-10 is a complicated cytokine that has a role in tumor progression, antitumor immunity, and immune system regulation. rs1800890 is an IL-10 single nucleotide polymorphism linked to lower levels of IL-10. A total of 67 patients with ITP and 70 healthy individuals (controls) were considered in this study. The IL-10 polymorphism was detected by the amplification refractory mutation system–polymerase chain reaction technique. According to our analysis, individual carriers of the AA genotype were less likely to develop ITP. The AT genotype was more common in patients with ITP in comparison to the control group. However, there was no significant association between rs1800890 genotypes (p = 0.775, odds ratio =1.517, 95%) in the acute and chronic groups. We observed that women had a higher mean frequency of this polymorphism (p = 0.0012). The rs1800890 AA genotype was associated with the highest platelet counts. However, the mean platelet volume and platelet distribution width values among alleles of the polymorphisms did not vary significantly. The IL-10 rs1800890 polymorphism may have a role in idiopathic thrombocytopenic purpura etiology. As a result, more research with a larger number of sample sizes is suggested.

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“…[21][22][23] The distribution of single-nucleotide polymorphisms varies among different ethnic groups, which is also true specifically for polymorphisms in the cytokine-encoding genes related to ITP. [24][25][26][27][28][29][30][31][32][33][34][35][36][37][38] However, there are few reports on the association of cytokine-related polymorphisms with responsiveness to TRAs in Japanese patients with ITP. Therefore, the associations between polymorphisms in cytokine-encoding genes and therapeutic responses to steroids and TRA in Japanese patients with ITP were investigated in the present study.…”

Section: Introductionmentioning

confidence: 99%

Effect of Cytokine Gene Polymorphisms on Eltrombopag Reactivity in Japanese Patients with Immune Thrombocytopenia

Nomura

Abe

Yamaoka

et al. 2021

JBM

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Background Immune thrombocytopenic purpura (ITP) is an autoimmune disease characterized by low platelet counts resulting from antiplatelet autoantibodies. Analysis of polymorphisms in cytokine-encoding genes is important for understanding the pathophysiology of ITP and selecting appropriate treatments. We investigated associations between polymorphisms in cytokine-encoding genes and responses to therapy in Japanese patients with ITP. Methods The participants in this study comprised 153 patients with ITP and 70 healthy controls. We extracted data on sex, age, platelet counts, bleeding symptoms, and therapeutic responses, including those to prednisolone (PSL) and eltrombopag. Genomic DNA was isolated from peripheral blood and polymorphisms in TNF-α, IL-10, TGF-β 1 , and IFN-γ genes were analyzed using the PCR-SSP method. Results Our results showed that the TGF-β 1 +869 C/C genotype might be related to ITP in Japanese patients. The IL-10 −592 C/C and A/A, −819 C/C and T/T, and −1082, −819, −592 ATA/ATA genotypes might be associated with reactivity to PSL. Furthermore, the IL-10 −592 C/A −819 C/T genotypes, IL-10 ACC/ATA genotype, and TGF-β 1 +869 T/T and T/C genotypes might be linked to the response to eltrombopag. Conclusion Our results indicate that analysis of polymorphisms in cytokine-encoding genes could aid in understanding PSL and eltrombopag responsiveness in Japanese patients with ITP.

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The potential association of tumor necrosis factor-βeta (252 G/A) cytokine gene polymorphism with immune thrombocytopenic purpura among Egyptian children

Abstract: The risk of developing ITP was not related to the studied polymorphism.

Cited by 6 publications

References 23 publications

Combined tumor necrosis factor-α (−308 G/A) and tumor necrosis factor-β (+ 252 A/G) nucleotide polymorphisms and chronicity in Egyptian children with immune thrombocytopenia

Combined tumor necrosis factor-α (−308 G/A) and tumor necrosis factor-β (+ 252 A/G) nucleotide polymorphisms and chronicity in Egyptian children with immune thrombocytopenia

rs1800890 Polymorphism of IL-10 and Susceptibility to Idiopathic Thrombocytopenic Purpura

Effect of Cytokine Gene Polymorphisms on Eltrombopag Reactivity in Japanese Patients with Immune Thrombocytopenia

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