IL-Iβ +3954 C / T Polymorphism and Its Clinical Associations in Egyptian Sickle Cell Disease Patients
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Rasha Abdel-Raouf Abdel-Aziz Afifi
,
Yasser Mohamad Sedky
,
Hesham Abd-Elkarim
,
Shahira Kamal Anis Botros
Abstract
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.
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| Files | ||
| Issue | Vol 13, No 1 (2019) | |
| Section | Original Article(s) | |
| DOI | https://doi.org/10.18502/ijhoscr.v13i1.323 | |
| Keywords | ||
| Sickle cell disease; Interleukin-1 beta; Single nucleotide polymorphism; Hypertension; Pulmonary | ||
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