Association of Interleukin-4 Receptor α Chain I50V Gene Variant (rs1805010) and Asthma in Iranian Population: A Case-control Study.

Background: Asthma is one of the respiratory disorders caused by chronic airway inflammation. IL-4 has been identified as one of the participating interleukins in the severity of asthma. Objective: A case-control study was conducted to determine the association of rs1805010, a single nucleotide polymorphism in the interleukin 4 receptor α chain, with asthma and immunoglobulin E and IL-17A serum levels in Iranian populations. Methods: ELISA was used to investigate the relationship between three different varieties of SNP I50V and serum IL-17A levels, as well as total IgE levels. Based on GINA criteria, patients were classified into mild, moderate, and severe groups based on the association between SNP I50V, IL-17A, and total IgE. In order to analyze the data, the student-t-test and the one-way ANOVA were used. Results: The SNP I50V was associated with asthma in a significant way (p = 0.001). IL-17A and total IgE levels were significantly higher in asthmatic patients than in control participants (p 0.05 and p 0.021, respectively), but neither showed any association with SNP I50V in the asthmatic patients. Conclusion: Asthma patients have a higher prevalence of the I allele, reflecting the significance of Th2 cells. Although total IgE and IL-17A levels increased in both disease subgroups, total IgE level augmentation correlates directly with disease severity, while IL-17A level enhancement does not.

Investigating the Association between IL-27 and Susceptibility to Preeclampsia among Iranian Women.

BACKGROUND: Preeclampsia (PE) is one of the most serious disorders of human pregnancy with a high rate of mortality for the fetus and mother. Several etiological factors are involved in the onset of this disease. Upregulation of IL-27 has been reported in placental tissue recovered from preeclamptic women, but the role of IL-27 has not yet been investigated in PE. The aim of the study was to investigate the association of IL-27 rs153109 and rs17855750 gene polymorphisms with PE; also, protein levels and susceptibility and severity of PE in Iranian women were evaluated. METHODS: This case-control study was performed on 199 PE patients and 228 healthy women as the control group. IL-27 rs153109 and rs17855750 SNPs were genotyped using a PCR-RFLP method. Moreover, the levels of IL-27 were determined in 40 PE and 45 healthy women using ELISA method. RESULTS: Statistical analysis indicated that there were no differences in genotype, allele and genotype combination frequencies in the SNPs between cases and controls. The plasma level of IL-27 was elevated in the mild form of the disease compared with controls (p-value: 0.006). CONCLUSIONS: The effect of IL-27 in preeclampsia is not due to the studied cytokine polymorphisms, but the level of IL-27 might be associated with the severity of preeclampsia in Iranian women.

Long-term safety and efficacy of hydroxyurea in patients with non-transfusion-dependent ß-thalassemia: a comprehensive single-center experience.

Over the past 20 years, hydroxyurea (HU) has emerged as an effective therapeutic agent in thalassemic patients to improve anemia and decrease the transfusion dependency. We evaluated long-term safety and clinical response to HU in patients with non-transfusion-dependent ß-thalassemia (NTDT). In this retrospective study, medical records of 181 patients with NTDT were evaluated during October to December 2020 in Southern Iran. No requirement to blood transfusion was considered as sustained transfusion independence response. All patients were regularly examined and monitored for the occurrence of any adverse event (AE) of HU. The mean duration of HU consumption ± SD was 18.2 ± 4.0 (8-22) years. Overall, 149 patients (82.3%) had sustained transfusion independence response. ß-globin gene mutations and XmnI polymorphisms were not significantly associated with clinical response (P > 0.05). Mild and transient AEs were reported in 60 patients (33%) with no requirement to drug interruption. Hydroxyurea with the dose of 8-15 mg/kg can be used as a safe and effective treatment in NTDT patients. It was well tolerated in long term without any serious complication or secondary malignancy. No relationship between XmnI or ß-globin gene mutations with HU response was observed in this geographic area of the world.

Effects of three months of treatment with vitamin E and N-acetyl cysteine on the oxidative balance in patients with transfusion-dependent ß-thalassemia.

Oxidative stress is a major mechanism contributing to the progression of ß-thalassemia. To assess the effect of vitamin E and N-acetyl cysteine (NAC) as antioxidant agents on total oxidative stress (TOS) status and total antioxidant capacity (TAC) in patients with transfusion-dependent ß-thalassemia (TDT). In this open-label randomized controlled trial, from May to August 2019, 78 eligible patients with TDT over the age of 18 were enrolled. All patients were registered at the Thalassemia Clinic of Shiraz University of Medical Sciences in Southern Iran. Patients were randomly allocated to the NAC group (10 mg/kg/day, orally), vitamin E group (10 U/kg/day, orally), and control group. The duration of the study was 3 months. The mean age of the participants was 28.5 ± 5.1 (range: 18-41) years. At the end of the study, TOS significantly decreased only in the vitamin E group (mean difference (MD), 95% confidence interval (CI): 0.27 (0.03-0.50), P = 0.026). TAC significantly decreased in both supplemented groups at the 3rd month of treatment (NAC group: MD (95% CI): 0.11 (0.04-0.18), P = 0.002 and vitamin E group: 0.09 (0.01-0.16), P = 0.022 respectively). Hemoglobin did not significantly change at the end of the study in each group (P > 0.05). Mild transient adverse events occurred in 4 patients of the NAC group and 5 patients of the vitamin E group with no need to discontinue the treatment. Vitamin E can be a safe and effective supplement in improving oxidative stress in patients with TDT. Moreover, it seems that a longer duration of using antioxidant supplements needs to make clinical hematologic improvement in TDT patients.

Distribution of alpha-thalassemia mutations in Iranian population.

BACKGROUND: Alpha-thalassemia as one of the most common monogenetic disorders is widely spread over the Mediterranean, Southeast Asian, and Middle Eastern populations, including Iran. Although beta-thalassemia is much more common than alpha-thalassemia, alpha-thalassemia is still one of the main health problems in Iran with different mutation frequencies in various ethnic groups. So the evaluation of alpha-thalassemia mutations could be helpful to detect carriers as well as prevention strategy in Iranian population. OBJECTIVES: The aim of this study was to investigate the spectrum and frequencies of alpha-globin mutations in different ethnic groups of southern Iran. MATERIALS AND METHODS: Common alpha-globin mutations were evaluated in 4010 Iranian population using a reverse dot blot for all point mutations and gap-polymerase chain reaction. RESULTS: Out of all individuals, 3993 were distinguished as carriers of alpha-thalassemia mutations. Thirteen types of alpha-thalassemia mutations were discovered. Allele of α(3.7) mutation was the most prevalent (43.84%) followed by the α(IVS1/-5NT) allele with the prevalence of 4.91%. The less frequent alleles were Hb ICARIA and α(codon16) with the prevalence of 0.04 and 0.01%, respectively. CONCLUSION: Our findings are essential for carrier screening, genetic counseling, and prenatal diagnosis in order to decrease the prevalence of α-thalassemia in Iran which is one of the goals of the national screening program.