Contributions
Abstract: PB2404
Type: Publication Only
Background
Sickle cell disease (SCD) is one of the most common monogenic red cell disorders worldwide. IL-1 and IL-6 have pivotal role in pathogenesis of many acute and chronic diseases, their genetic alterations have been considered as molecular contributors for several inflammatory disorders.
Aims
To detect the frequency of Interleukin-1ß (IL-1ß +3954 C/T) and Interleukin-6 (IL-6-174 G/C) polymorphisms in a cohort of Egyptian SCD patients and to study their possible impact on the clinical course of the disease in a cohort of pediatric SCD patients.
Methods
Eighty four pediatric Egyptian SCD patients (54 males) with a mean age of 11.08 ± 5.9 years followed up at Pediatric Hematology and BMT Unit, Children Hospital, Cairo University were enrolled. Hundred age and sex matched unrelated healthy children were included in as a control group. Genotyping of IL-1β +3954 C/T and IL-6 -174 G/C polymorphisms was performed by PCR-RFLP assay. Informed consents were obtained from the parents or legal guardians of patients before enrollment and the study was approved by the Research Ethics Committee of Faculty of Medicine, Cairo University.
Results
Genotypic frequencies of IL-1β +3954 C/ T in studied group (n=84) were 38.1% for the heteromutant genotype and 15.5% for homomutant genotype. For IL-6-174 G/C, 58.2% and 12% of SCD patients had hetermutant and homomutant genotypes respectively. There was no statistical difference in the distribution of polymorphic genotypes between SCD and controls Polymorphic genotypes of IL-6-174 G/C were associated with frequent and severe attacks of vaso-occlusion (VOC) requiring hospitalization (p=0.023 and 0.03 respectively), while there was no statistical difference between SCD patients harboring wild or polymorphic genotypes of IL-1β +3954 C/T regarding gender, frequency and severity of VOC or disease-related complications.
Conclusion
Our study provides evidence of the possible role of IL-6, as an inflammatory marker, in the vaso-occlusive subphenotype of SCD and marking a more unfavorable disease phenotype. IL-6 -174 G/C polymorphism could be considered as a molecular predictor for recurrent, severe attacks of VOC in Egyptian SCD patients. Further investigations with larger cohorts are recommended for better characterization of patients prone for complications and for identification of novel molecular markers that could modulate disease morbidity and mortality.
Session topic: 27. Sickle cell disease
Keyword(s): IL-1, IL-6, Polymorphism, sickle cell disease
Abstract: PB2404
Type: Publication Only
Background
Sickle cell disease (SCD) is one of the most common monogenic red cell disorders worldwide. IL-1 and IL-6 have pivotal role in pathogenesis of many acute and chronic diseases, their genetic alterations have been considered as molecular contributors for several inflammatory disorders.
Aims
To detect the frequency of Interleukin-1ß (IL-1ß +3954 C/T) and Interleukin-6 (IL-6-174 G/C) polymorphisms in a cohort of Egyptian SCD patients and to study their possible impact on the clinical course of the disease in a cohort of pediatric SCD patients.
Methods
Eighty four pediatric Egyptian SCD patients (54 males) with a mean age of 11.08 ± 5.9 years followed up at Pediatric Hematology and BMT Unit, Children Hospital, Cairo University were enrolled. Hundred age and sex matched unrelated healthy children were included in as a control group. Genotyping of IL-1β +3954 C/T and IL-6 -174 G/C polymorphisms was performed by PCR-RFLP assay. Informed consents were obtained from the parents or legal guardians of patients before enrollment and the study was approved by the Research Ethics Committee of Faculty of Medicine, Cairo University.
Results
Genotypic frequencies of IL-1β +3954 C/ T in studied group (n=84) were 38.1% for the heteromutant genotype and 15.5% for homomutant genotype. For IL-6-174 G/C, 58.2% and 12% of SCD patients had hetermutant and homomutant genotypes respectively. There was no statistical difference in the distribution of polymorphic genotypes between SCD and controls Polymorphic genotypes of IL-6-174 G/C were associated with frequent and severe attacks of vaso-occlusion (VOC) requiring hospitalization (p=0.023 and 0.03 respectively), while there was no statistical difference between SCD patients harboring wild or polymorphic genotypes of IL-1β +3954 C/T regarding gender, frequency and severity of VOC or disease-related complications.
Conclusion
Our study provides evidence of the possible role of IL-6, as an inflammatory marker, in the vaso-occlusive subphenotype of SCD and marking a more unfavorable disease phenotype. IL-6 -174 G/C polymorphism could be considered as a molecular predictor for recurrent, severe attacks of VOC in Egyptian SCD patients. Further investigations with larger cohorts are recommended for better characterization of patients prone for complications and for identification of novel molecular markers that could modulate disease morbidity and mortality.
Session topic: 27. Sickle cell disease
Keyword(s): IL-1, IL-6, Polymorphism, sickle cell disease