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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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CX3CR1 at V249M and T280M Gene Polymorphism and Its Potential Risk for End-Stage Renal Diseases in Egyptian Patients

Asmaa Fathelbab Ibrahim1, Asmaa Osama Bakr Seddik Osman2, Lamiaa M Elabbasy3,4

  • 1Lecturer of Clinical & Chemical Pathology, Faculty of Medicine, Beni Suef University, Beni Suef, Egypt.

International Journal of Nephrology
|May 14, 2021
PubMed

Insights

Certain CX3CR gene variations, specifically V2491-GA and T280M-TA, are linked to an increased risk of end-stage renal disease (ESRD) in Egyptian patients. These genotypes also correlate with higher fractalkine blood levels, suggesting a potential therapeutic target.

Area of Science:

  • Genetics and Molecular Biology
  • Nephrology
  • Immunology

Background:

  • The CX3CL1-CX3CR1 pathway is implicated in the progression of end-stage renal disease (ESRD).
  • Understanding genetic variations in this pathway may offer new therapeutic targets for ESRD.

Purpose of the Study:

  • To investigate CX3CR gene polymorphisms in Egyptian ESRD patients.
  • To assess the relationship between these gene polymorphisms and serum fractalkine levels.

Main Methods:

  • Genotyping of CX3CR gene polymorphisms (V2491 and T280M) in 100 Egyptian ESRD patients and healthy controls.
  • Measurement of serum fractalkine levels using ELISA.
  • Statistical analysis to compare genotype frequencies and fractalkine levels between patients and controls.

Main Results:

  • The V2491 polymorphism showed a higher frequency of the GA genotype in ESRD patients (30%) compared to controls (15%) (P=0.03).
  • The T280M polymorphism revealed a higher prevalence of the TA genotype in ESRD patients (29%) versus controls (13%) (P=0.01).
  • Elevated serum fractalkine levels were observed in patients with GA+AA genotypes for V2491 (P=0.03) and TA+AA genotypes for T280M (P=0.05).

Conclusions:

  • The V2491-GA and T280M-TA genotypes are associated with an increased risk of ESRD in the Egyptian population.
  • These genotypes correlate with elevated blood fractalkine levels, highlighting the CX3CL1-CX3CR1 pathway's role in ESRD pathogenesis.

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