Background: Acute lymphoblastic leukemia (ALL) incidence has been linked to different genetic variations. Neutrophil cytosolic factor 4 (NCF4) (rs1883112) single nucleotide polymorphism (SNP) is one of the implicated genetic variations.
Aim: To demonstrate the association between NCF4 (rs1883112) SNP and susceptibility to develop ALL in Egyptian children and its correlation to clinical variables, laboratory parameters, and patient outcomes.
Methods: The study was conducted on 100 ALL patients < 18 years old and 100 healthy controls matched in age and sex. The detection of NCF4 (rs1883112) polymorphism by Taqman real-time PCR was carried out.
Results: The GA and AA genotypes, dominant model, and A allele showed a lower frequency in ALL patients compared to controls (p=0.001, 0.015, 0.001, and 0.009, respectively). The AA genotype was significantly associated with a higher frequency of patients with t(12;21), and those achieved complete remission (p=0.005 and 0.014, respectively). The hazard ratio (HR) of the dominant model was (HR=0.15, p=0.031) for overall survival and (HR=0.24, p=0.012) for disease-free survival by univariate analysis.
Conclusion: Our results suggested that NCF4 (rs1883112) SNP has a significant protective effect against susceptibility to ALL development. Also it is associated with favorable outcomes concerning the overall survival and disease-free survival.
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