Association of Genetic polymorphism from CYP1A1*2C Variant (Ile462Val) and TP53 codon 72 in Acute and Chronic Myelogenous Leukemic Patients

SUMMARY

Acute Myeloid Leukemia (AML) and Chronic Myeloid Leukemia (CML) are life-threatening hematological neoplasms characterized by an uncontrolled proliferation of myeloid progenitors. The phase I metabolism response, which metabolizes xenobiotics and endogenous and exogenous DNA-reactive chemical compounds that may cause genotoxicity and raise the risk of AML and CML, is catalyzed by the cytochrome P450 (CYP) enzyme.

The current study is aimed to identify the frequency of CYP1A1*2C (rs1048943: A>G) and p53 codon 72 (rs1042522) polymorphisms in AML, and CML patients. Also, compare some hematological parameters in AML and CML to regulate the role of allele variants as a risk factor for developing leukemia. Polymerase Chain Reaction (PCR) was used to identify the polymorphisms.

Fifty patients diagnosed with AML, 50 patients diagnosed with CML, and 30 healthy controls were collected from Nanakali Hospital in Erbil city. Samples were analyzed for genotyping of CYP1A1*2C and p53 codon 72 (rs1042522) polymorphisms using PCR and gel electrophoresis.

The results for CYP1A1*2C (rs1048943: A>G) showed that Ile/Ile (AA)- Wild, Ile/Val (AG)- Hetero, and Val/Val (GG)- Homo mutant genotypes were not significantly elevated in the AML and CML group compared to the control group.

Distribution of the three genotypes, Arg/Arg (GG), Arg/Pro (GC), and Pro/Pro (CC) in p53 codon 72 showed no changes in the dispensation of the Arg/Arg, Arg/Pro, and Pro/Pro in the study population between AML patients and controls. However, a significant difference between CML and controls, indicating that this polymorphism had an effect on CML patients. P53 codon 72 polymorphisms were significantly associated with CML cases compared to controls (p-value= 0.0048). The frequency of the homozygous Arginine genotype was significantly elevated in the AML and CML groups compared to the control group.

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