IL-Iβ +3954 C / T Polymorphism and Its Clinical Associations in Egyptian Sickle Cell Disease Patients

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.