Morteza Bagheri; Ali Akbar Amirzargar; Ardeshir Ghavamzadeh; Kamran Alimoghadam; Farideh Khosravi; Bita Ansaripour; Batoul Moradi; Behrouz Nikbin
Volume 2, Issue 1 , March 2005, , Pages 43-49
Abstract
Background: β-thalassemia as a hereditary disease is defined as defective synthesis of β-globin chains, resulting in erythropoiesis abnormalities and severe anemia. Different studies have shown that cytokines and cytokine gene polymorphisms play a major role in the pathogenesis of ...
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Background: β-thalassemia as a hereditary disease is defined as defective synthesis of β-globin chains, resulting in erythropoiesis abnormalities and severe anemia. Different studies have shown that cytokines and cytokine gene polymorphisms play a major role in the pathogenesis of β-thalassemia. Single nucleotide polymorphisms (SNPs) within the promoter region or other regulatory sequences of cytokine genes lead to overall production of cytokines. Objective: To analyze the genetic profile of Th1 and Th2 cytokines in Iranian patients with β-thalassemia major. Methods: Allelic and genotype frequencies of cytokine genes were determined in 30 thalassemia patients and 40 healthy subjects using PCR-SSP assay. Allele and genotype frequencies were calculated and compared with those of normal controls. Results: The results of our study show a significant decrease in A allele at position UTR 5644 IFN- γ, G alleles at position -238 TNF- α and 166 IL-2, and C allele at position -590 IL-4. TGF- β haplotype TG/TG increased whereas TGF-β haplotype CG/CG and IL-10 haplotype GCC/ACC decreased significantly in all patients. Conclusion: Data of this investigation suggest that variations among cytokine gene polymorphisms may contribute to the disease susceptibility. A finding which needs to be fairly clarified in other ethnic groups.
Ali Akbar Amirzargar; Morteza Bagheri; Ardeshir Ghavamzadeh; Kamran Alimoghadam; Farideh Khosravi; Mohammad Hossein Nicknam; Mandana Moheydin; Bita Ansaripour; Batul Moradi; Behrouz Nikbin
Volume 1, Issue 1 , June 2004, , Pages 26-33
Abstract
Background:It has been hypothesized that genetic factors other than histocompatibility disparity may play a role in predisposition to developing Chronic Myelogenous Leukemia (CML). In this regard, Th1 and Th2 cytokines and their gene polymorphism seems to be important. Overall expression and secretion ...
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Background:It has been hypothesized that genetic factors other than histocompatibility disparity may play a role in predisposition to developing Chronic Myelogenous Leukemia (CML). In this regard, Th1 and Th2 cytokines and their gene polymorphism seems to be important. Overall expression and secretion of cytokines is dependent, at least in part, on genetic polymorphism (nucleotide variations) within the promoter region or other regulatory sequences of cytokine genes. The majority of polymorphisms described are single nucleotide polymorphism (SNPs). The objective of this study was to analyze the genetic profile of Th1 and Th2 cytokines in 30 Iranian patients with CML and 40 healthy subjects. Methods: In the patients and control subjects, the allelic and genotype frequencies were determined for the cytokine genes. All typing were performed by PCR-SSP assay. Allele and genotype frequencies were calculated and compared with those of normal controls. Results: The results showed that the most frequent alleles in our patients were TGF-b TG/TG, IL-4 T at position -1089, C at position -590, T at position -33 and IL-10 A at position -1082. Whereas the following alleles - TGF-b CG/CG and IL-10 C at position -592 – were seen in much lower frequencies. Conclusion: In conclusion, it could be suggested that the frequency of high producing TGF-b alleles and low producing IL-4 and IL-10 alleles in the CML patients is higher than the normal subjects.
