Botros, S. K., N. E. Gharbawi, G. Shahin, H. A. Lithy, and M. Elsherbiny, "Impact of Cytochromes P450 3A4 and 2B6 gene polymorphisms on predisposition and prognosis of acute myeloid leukemia: an Egyptian case-control study", Egyptian Journal of Medical Human Genetics, vol. 22, issue 38, 2021.
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El-Hady, M. A., D. S. Mosallam, S. K. Anis, B. S. Mansour, and M. E. Yassa, "Tumor necrosis factor induced protein 3 gene polymorphism and the susceptibility to chronic primary immune thrombocytopenia in Egyptian children: a case-control study", Egyptian Journal of Medical Human Genetics, vol. 22, issue 12, 2021.
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Yassa, M. E., H. H. Arnaout, S. K. Botros, E. N. Obaid, W. M. Mahmoud, and D. S. Morgan, "The role of glutathione S-transferase omega gene polymorphisms in childhood acute lymphoblastic leukemia: a casecontrol study", Egyptian Journal of Medical Human Genetics, vol. 22, issue 17, 2021.
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K.A.Botros, S., O. M.Ibrahim, and A. A.Gad, "Study of the role of IL-17F gene polymorphism in the development of immune thrombocytopenia among the Egyptian children", Egyptian Journal of Medical Human Genetics, vol. 19, issue 4, pp. 385-389, 2018.
Farawela, H. M., S. K. A. Botros, M. El-Ghamrawy, and E. O. Ebrahim, "Interleukin-23R gene polymorphism in pediatric Egyptian patients with primary immune thrombocytopenia.", Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis, vol. 27, issue 4, pp. 374-7, 2016 Jun. Abstract

Primary immune thrombocytopenia is an acquired autoimmune disorder caused by the production of antiplatelet antibodies. These autoantibodies opsonize platelets for splenic clearance, resulting in low levels of circulating platelets. The current case-control study aimed at detecting the frequency of interleukin-23 receptor rs1884444 single nucleotide polymorphism in Egyptian children with primary immune thrombocytopenia and its possible role as a genetic marker for disease risk. Interleukin-23 receptor rs1884444 single nucleotide polymorphism was studied in 50 patients with primary immune thrombocytopenia and 100 healthy age and sex-matched controls by polymerase chain reaction amplification of the target gene followed by allele-specific restriction enzyme digestion. Regarding the distribution of the genotypes of the interleukin-23 receptor rs1884444 polymorphism, no statistically significant difference was found between cases and control groups. The variant genotypes (GT/TT) frequency was 10% in primary immune thrombocytopenia cases versus 7% in the control groups [P value = 0.755, odds ratio (OR): 0.326, 95% confidence interval (CI): 0.099-1.076]. Similarly, no difference was found between acute and chronic cases. The variant genotypes GT/TT frequency was 10.7% in acute versus 9.1% in chronic primary immune thrombocytopenia (P value = 0.849). The variant genotypes GT/TT were not found to be a risk factor for acute primary (P value = 0.807, OR: 0.641, 95% CI: 0.16-2.563) or chronic primary immune thrombocytopenia (P value = 0.914, OR: 0.762, 95% CI: 0.153-3.797). Our study suggests the possibility that interleukin-23 receptor gene polymorphism may not contribute to the susceptibility of development of primary immune thrombocytopenia in Egyptian children.

Enein, A. A., N. A. El Dessouky, K. S. Mohamed, S. K. A. Botros, M. F. Abd El Gawad, M. O. N. A. HAMDY, and N. Dyaa, "Frequency of Hereditary Hemochromatosis (HFE) Gene Mutations in Egyptian Beta Thalassemia Patients and its Relation to Iron Overload.", Open access Macedonian journal of medical sciences, vol. 4, issue 2, pp. 226-31, 2016 Jun 15. Abstract

AIM: This study aimed to detect the most common HFE gene mutations (C282Y, H63D, and S56C) in Egyptian beta thalassemia major patients and its relation to their iron status.

SUBJECTS AND METHODS: The study included 50 beta thalassemia major patients and 30 age and sex matched healthy persons as a control group. Serum ferritin, serum iron and TIBC level were measured. Detection of the three HFE gene mutations (C282Y, H63D and S65C) was done by PCR-RFLP analysis. Confirmation of positive cases for the mutations was done by sequencing.

RESULTS: Neither homozygote nor carrier status for the C282Y or S65C alleles was found. The H63D heterozygous state was detected in 5/50 (10%) thalassemic patients and in 1/30 (3.3%) controls with no statistically significant difference between patients and control groups (p = 0.22). Significantly higher levels of the serum ferritin and serum iron in patients with this mutation (p = 001).

CONCLUSION: Our results suggest that there is an association between H63D mutation and the severity of iron overload in thalassemic patients.

El-Adly, T. Z., S. Kamal, H. Selim, and S. Botros, "Association of macrophage migration inhibitory factor promoter polymorphism -173G/C with susceptibility to childhood asthma.", Central-European journal of immunology, vol. 41, issue 3, pp. 268-272, 2016. Abstract

INTRODUCTION: Macrophage migration inhibitory factor (MIF) is a proinflammatory cytokine that plays an important role in the pathogenesis of asthma. Polymorphisms associated with inflammatory diseases exist in the promoter region of MIF, which alter its expression. We aimed to study the association of MIF promoter polymorphism -173G/C with childhood asthma.

MATERIAL AND METHODS: In this case-control study, we recruited 60 pediatric patients with bronchial asthma and 90 age- and sex-matched healthy controls. MIF-173G/C was genotyped using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP).

RESULTS: Genotype distribution between cases and healthy controls was statistically evaluated. Our results revealed that the frequency of the MIF-173C allele was significantly higher in children with asthma than in the control group (p = 0.002, odds ratio [OR] = 3.61, 95% confidence interval [CI] = 1.63-7.97). The frequency of the MIF-173CC genotype was higher in the asthmatic children than in the controls (p = 0.028, OR = 6.24, 95% CI = 1.24-31.29). Comparing carriage of the MIF-173C allele in pediatric patients with asthma with that observed in healthy controls (GC + CC vs. GG) revealed a positive association with the disease (p = 0.019, OR = 3.12, 95% CI = 1.22-7.99).

CONCLUSIONS: These results suggest that MIF-173G/C polymorphism confers an increased risk of susceptibility to the development of childhood asthma in an Egyptian population.

Zayed, R. A., M. A. Eltaweel, S. K. A. Botros, and M. A. Zaki, "MN1 and PTEN gene expression in acute myeloid leukemia.", Cancer biomarkers : section A of Disease markers, vol. 18, issue 2, pp. 177-182, 2017. Abstract

OBJECTIVE: Multiple genetic alterations with prognostic significance have been discovered in acute myeloid leukemia (AML). We studied the expression level of two genes, Meningioma1 (MN1) and Phosphatase and Tensin homolog (PTEN) to determine their expression in AML patients and their role as prognostic markers.

METHODS: The study included 50 cytogenetic normal de novo AML cases and 10 controls, Their level was detected by Real time Reverse Transcription-Polymerase Chain Reaction.

RESULT: Relative mRNA expression of MN1 was significantly higher (p value < 0.001) and PTEN expression was significantly lower (p value = 0.002). No correlation was found between neither MN1 nor PTEN mRNA expression and overall survival (p value = 0.212 and 0.310) respectively.

CONCLUSION: Although our study suggests a role for MN1 gene and PTEN genes in AML, we could not recommend their use as routine diagnostic and prognostic markers for AML in Egyptian population.

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