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

Rasha Abdel-Raouf Abdel-Aziz Afifi1, Yasser Mohamad Sedky1, Hesham Abd-ELKareem2

  • 1Department of Pediatrics, Cairo University, Cairo, Egypt.

International Journal of Hematology-Oncology and Stem Cell Research
|June 18, 2019
PubMed

Insights

The study found a higher prevalence of a specific Interleukin-1 beta (IL-1β) gene variant in Egyptian sickle cell disease (SCD) patients. This variant was linked to increased pulmonary hypertension risk in SCD patients.

Area of Science:

  • Genetics
  • Hematology
  • Immunology

Background:

  • Sickle cell disease (SCD) is an inherited hemolytic anemia causing chronic inflammation and reduced quality of life.
  • Interleukin-1 beta (IL-1β) plays a role in inflammatory diseases, and its single nucleotide polymorphisms (SNPs) may predict disease prognosis.
  • IL-1β (+3954C/T) SNP is investigated for its potential role in modifying SCD phenotypes.

Purpose of the Study:

  • To investigate the IL-1β (+3954C/T) single nucleotide polymorphism (SNP) as a potential genetic modifier in sickle cell disease (SCD).
  • To explore the association between IL-1β (+3954C/T) SNP and clinical and laboratory features of SCD patients.

Main Methods:

  • A cross-sectional study involving 50 SCD patients and 50 healthy controls.
  • Genotyping of IL-1β (+3954C/T) SNP using Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP).
  • Analysis of associations between the IL-1β (+3954C/T) SNP and SCD clinical and laboratory profiles.

Main Results:

  • The homozygous mutant genotype (TT) for IL-1β (+3954C/T) SNP was significantly more prevalent in SCD patients (26%) compared to controls (6%).
  • The TT genotype was associated with significantly higher mean pulmonary arterial pressure (42.62 mmHg) in SCD patients compared to CC and CT genotypes (33.49 mmHg).

Conclusions:

  • An increased prevalence of the IL-1β +3954 SNP mutant genotype was observed in Egyptian SCD patients.
  • The IL-1β +3954 SNP mutant genotype was more common in SCD patients with pulmonary hypertension, suggesting a role in disease complications.
  • These findings indicate a potential role for IL-1β +3954 SNP in the pathophysiology and manifestations of sickle cell disease.

Keywords:
HypertensionInterleukin-1 betaPulmonarySickle cell diseaseSingle nucleotide polymorphism

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