Investigation of the role of DDX41 mutation and some immunological parameters for leukemia

Leukemia is a type of cancer that affects the blood-making tissues in the body, such as the bone marrow and the lymphatic system. It mainly involves the white blood cells, which typically help fight infections. People with leukemia have too many abnormal white blood cells that work poorly. Leukemia is believed to be caused by some changes in the DNA of some blood cells. This study aimed to evaluate DDX41 mutation in healthy subjects and patients with leukemia. For this purpose, 78 patients with leukemia and 30 healthy subjects were evaluated. The DNA of the whole blood was collected, followed by DNA sequencing. Then, the CBC, Ferritin, and IL-6 were assessed using the study demonstrated a high occurrence of a specific single nucleotide polymorphism (SNP) in the tested samples. The SNP was observed at position 338 of the amplified PCR fragments, resulting in the replacement of C nucleotide with G nucleotide, referred to as 338C>G or C338G. The SNP was commonly detected in two distinct patterns, CC and CG. The sequencing chromatograms displayed the positions of these sequences in the PCR amplicons. The study found that the C/C status, which is homozygous for the C nucleotide, was predominant in both cases (24/78) and controls (18/30). Additionally, the heterozygous C/G pattern was observed frequently in both cases (54/78) and controls (12/30). Notably, the homozygous TT pattern and heterozygous CT were not detected in either the sample or control groups. The study results indicate that DDX41 C>G SNP distribution in the studied population is consistent with Hardy-Weinberg equilibrium (HWE) with a non-significant p-value of 0.06. Under the recessive and dominant models, the association of DDX41 SNP with leukemia was not statistically significant. However, the recessive model (GG+GA) was observed to be more sensitive to leukemia infection, with an odds ratio (OR) of 2.6. In addition, the results of the present study showed that there was no significant difference between leukemia patients and healthy control (P>0.05). However, the WBC of patients was more than healthy control (10.42[10^9/L] in leukemia patients while 5.02[10^9/L] in healthy controls, P<0.001). Our findings also showed that in normal subjects the ferritin was 247.82± 330.98 ng/mL while this value in IL-6 was 4.44± 1.54 pg/mL in leukemia patients while this value in healthy control was 1.75±0.19 pg/mL (P<0.001). In conclusion, this study showed that patients with leukemia suffer from C338G mutation more than healthy subjects. This mutation may affect IL-6 levels but did not change CBC results