TY - JOUR ID - 16827 TI - Cytokine Gene Polymorphisms in Iranian Patients with Beta-Thalassemia Major JO - Iranian Journal of Immunology JA - IJI LA - en SN - 1735-1383 AU - Bagheri, Morteza AU - Amirzargar, Ali Akbar AU - Ghavamzadeh, Ardeshir AU - Alimoghadam, Kamran AU - Khosravi, Farideh AU - Ansaripour, Bita AU - Moradi, Batoul AU - Nikbin, Behrouz AD - Department of Molecular Biology & Genetics, Uromia University of Medical Sciences, Uromia, Iran AD - Immunogenetic Laboratory, Department of Immunology, School of Medicine, Tehran University of Medical Sciences AD - Hematology-Oncology and BMT Research Center, Shariati Hospital, Tehran, Iran Y1 - 2005 PY - 2005 VL - 2 IS - 1 SP - 43 EP - 49 KW - β-thalassemia KW - Cytokine Gene Polymorphism DO - N2 - 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. UR - https://iji.sums.ac.ir/article_16827.html L1 - https://iji.sums.ac.ir/article_16827_bc478f5723671d4c0a239edad709a89b.pdf ER -