Tehran University of Medical Sciences International Journal of Hematology-Oncology and Stem Cell Research 2008-2207 13 1 2019 01 02 35 41 EN Rasha Afifi Department of Pediatrics, Cairo University, Cairo, Egypt Yasser Sedky Department of Pediatrics, Cairo University, Cairo, Egypt Hesham Abd-Elkarim Faculty of Medicine, Cairo University, Cairo, Egypt Shahira Botros Department of Clinical Pathology, Cairo University, Cairo, Egypt 2018 04 28 2018 12 24 Background: Sickle cell disease (SCD) is a hereditary disorder characterized by hemolytic anemia with different clinical manifestations. Patients with SCD exhibit a chronic inflammatory state and reduced length and quality of life. Interleukin-1 β (IL-1β) is important in acute and chronic diseases; and its single nucleotide polymorphisms (SNP) have been considered as predictors of prognosis in several inflammatory conditions. This study aimed at exploring IL-1β (+3954C/T) SNP as a potential genetic modifier and/or predictor of SCD clinical and laboratory phenotypes. Materials and Methods: This cross-sectional study involved 50 SCD patients and 50 age, sex and ethnicity-matched healthy individuals. IL-1β (+3954C/T) SNP was identified by PCR-RFLP. Associations between IL-1β (+3954 C/T) SNP and the clinical and laboratory profiles of patients with SCD were studied. Results: It was found that the homozygous mutant genotype TT was significantly higher in cases compared to controls [13(26%) vs. 3(6%) respectively; p=0.006, OR (95%CI): 5.505(1.460-20.756)]. The homozygous mutant genotype TT was associated with a higher mean pulmonary arterial pressure when compared to the CC and CT genotype (42.62 vs. 33.49 mmHg, p<0.001). Conclusion: There is an increased prevalence of the mutant genotype of IL-1β +3954 SNP in Egyptian SCD patients. Regarding disease complications, the mutant genotype was more prevalent in cases complicated by pulmonary hypertension. These findings point to the possible role of IL-1β +3954 SNP in the pathophysiology of SCD and its manifestations. https://ijhoscr.tums.ac.ir/index.php/ijhoscr/article/view/941 https://ijhoscr.tums.ac.ir/index.php/ijhoscr/article/download/941/768