Expression of NCF4 (rs1883112) polymorphism and risk of developing acute lymphoblastic leukemia in Egyptian children

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 younger than 18 years, 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 who 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.