دورية أكاديمية
The impact of MCP1-2518A/G and CCR2-V64I genetic polymorphisms in Egyptian sickle cell disease patients.
| العنوان: | The impact of MCP1-2518A/G and CCR2-V64I genetic polymorphisms in Egyptian sickle cell disease patients. |
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| المؤلفون: | Ibrahim NS; Department of Clinical and Chemical Pathology, Faculty of Medicine, Cairo University, Cairo, Egypt., Makhlouf MM; Department of Clinical and Chemical Pathology, Faculty of Medicine, Cairo University, Cairo, Egypt. Electronic address: manal.makhlouf@kasralainy.edu.eg., Shahin GH; Department of Clinical and Chemical Pathology, Faculty of Medicine, Cairo University, Cairo, Egypt., Elghamrawy MK; Department of Pediatrics, Faculty of Medicine, Cairo University, Cairo, Egypt., Hussein NM; Department of Clinical and Chemical Pathology, Faculty of Medicine, Cairo University, Cairo, Egypt. |
| المصدر: | Experimental and molecular pathology [Exp Mol Pathol] 2022 Oct; Vol. 128, pp. 104834. Date of Electronic Publication: 2022 Sep 22. |
| نوع المنشور: | Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Elsevier Country of Publication: Netherlands NLM ID: 0370711 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-0945 (Electronic) Linking ISSN: 00144800 NLM ISO Abbreviation: Exp Mol Pathol Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: <2000- > : Amsteram : Elsevier Original Publication: New York : Academic Press |
| مواضيع طبية MeSH: | Receptors, CCR2*/genetics , Anemia, Sickle Cell*/genetics, Humans ; Genetic Predisposition to Disease ; Chemokine CCL2/genetics ; Monocytes ; Egypt ; Polymorphism, Genetic/genetics ; Genotype ; Chemokines ; Inflammation ; Gene Frequency |
| مستخلص: | Background: Sickle cell disease (SCD) is an inherited genetic disorders of hemoglobin that causes multisystem morbidity. The pathophysiology of SCD is complex and includes HbS polymerization/sickling, hemolysis, endothelial dysfunction and inflammation. Chemokines are proteins playing an important role in the inflammation process and could be involved the context of pro-inflammatory SCD. Some chemokine polymorphism were found to be associated with clinical complication in SCD. Aim of the Study: Was to explore the frequency and the possible effect of Monocyte Chemo-attractant Protein 1-2518A/G (MCP1-2518A/G) and Chemokine Receptor 2-V64I (CCR2-V64I) genetic polymorphisms on clinical and laboratory disease-related variables in Egyptian Sickle cell disease patients. Patients and Methods: Genotyping of the two genes were performed by PCR-RFLP technique for 80 SCD patients as well as 50 healthy control group. Results: The study revealed that the MCP1-2518 polymorphic genotypes (AG & GG) showed no statistically significant difference in the distribution of the polymorphic genotypes between SCD patients and the controls (p = 0.164). While a significantly higher frequency of the mutant variants CCR2-V64I GA/AA among SCD patients than the control subjects were found (p = 0.032). Regarding the clinic-pathological features, the frequency of recurrent infections, vaso-occlusive crisis, severe vaso-occlusive crisis and number of hospitalization/year were higher in patients harbouring the MCP1-2518A/G and CCR2-V64I polymorphic genotypes than the wild genotype, and gall bladder complications were higher in MCP1-2518 G allele patients, whereas surgical splenectomy were higher in CCR2-V64I A allele patients (p < 0.05). In Conclusion: MCP1-2518A/G and CCR2-V64I genetic polymorphisms may influence the clinical severity of sickle cell disease. Competing Interests: Declaration of Competing Interest The authors declared no conflict of interests. (Copyright © 2022 Elsevier Inc. All rights reserved.) |
| فهرسة مساهمة: | Keywords: CCR2-V64I; Chemokine; Genetic polymorphism; MCP1-2518A/G; PCR-RFLP; Sickle cell disease |
| المشرفين على المادة: | 0 (Receptors, CCR2) 0 (Chemokine CCL2) 0 (Chemokines) 0 (CCR2 protein, human) |
| تواريخ الأحداث: | Date Created: 20220926 Date Completed: 20221025 Latest Revision: 20221213 |
| رمز التحديث: | 20240628 |
| DOI: | 10.1016/j.yexmp.2022.104834 |
| PMID: | 36155203 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 1096-0945 |
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| DOI: | 10.1016/j.yexmp.2022.104834 |