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Published on: September 20, 2016
Evaluation of TP53 Codon 72, P21 Codon 31, and MDM2 SNP309 Polymorphisms in Iranian Patients with Acute Lymphocytic
Ahmad Lotfi Garavand1, Mohammad Mohammadi1, Sara Mohammadzadeh2
1Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.
Background:
The tumor suppressing protein p53 and its downstream effector p21 play important roles in cell cycle regulation. Deficiency or deactivation of these proteins as a result of gene alterations has been indicated in several cancers. Such genetic variations could be considered as susceptibility indicators in acute lymphocytic leukemia (ALL). Therefore, we investigated the associations between ALL risk and TP53 codon 72, p21 codon 31, and MDM2 SNP309 polymorphisms in an Iranian population.
Methods:
Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to determine the MDM2 T309G (rs2279744), TP53 codon Arg72Pro (rs1042522), and p21 Ser31Arg (rs1801270) single nucleotide polymorphisms (SNPs). This study was performed in 115 ALL patients and 115 healthy controls in Khuzestan province in southwest Iran.
Results:
In the control group and ALL patients, p21 Ser/Arg, and MDM2 TG and GG genotypes were associated with significant 1.81-fold (95% confidence interval CI= 1.008-3.267; P < 0.05), 11.07-fold (95% CI= 5.10-24.05; P < 0.0001), and 19.41-fold (95% CI= 8.56-43.99; P < 0.0001) increased risks for ALL, respectively. The TP53 72 Arg allele was significantly more prevalent in ALL patients (56.96%) than in control subjects (47.39%), and was significantly associated with ALL (OR= 1.47; 95% CI = 1.017-2.121, P < 0.05).
Conclusion:
The MDM2T309G and the p21 Ser31Arg SNPs indicate a significantly increased risk for developing ALL in Khuzestan province.
Insights
Genetic variations in tumor suppressor genes like TP53 and p21 are linked to cancer. This study found specific MDM2 and p21 gene polymorphisms significantly increase the risk of developing acute lymphocytic leukemia (ALL) in an Iranian population.
Area of Science:
- Genetics
- Oncology
- Molecular Biology
Background:
- The tumor suppressor protein p53 and its effector p21 are crucial for cell cycle regulation.
- Alterations in these genes are implicated in various cancers, potentially serving as susceptibility indicators for acute lymphocytic leukemia (ALL).
Purpose of the Study:
- To investigate the association between specific polymorphisms in the TP53, p21, and MDM2 genes and the risk of developing ALL.
- To analyze the prevalence of these genetic variations in an Iranian population.
Main Methods:
- Genotyping of MDM2 T309G (rs2279744), TP53 Arg72Pro (rs1042522), and p21 Ser31Arg (rs1801270) single nucleotide polymorphisms (SNPs) using Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP).
- Study included 115 ALL patients and 115 healthy controls from Khuzestan province, Iran.
Main Results:
- The p21 Ser/Arg genotype and MDM2 TG/GG genotypes were significantly associated with increased risks of ALL (1.81-fold and 11.07-19.41-fold, respectively).
- The TP53 72 Arg allele was more prevalent in ALL patients (56.96%) compared to controls (47.39%), showing a significant association with ALL risk (OR=1.47).
Conclusions:
- MDM2 T309G and p21 Ser31Arg single nucleotide polymorphisms are significantly associated with an increased risk of developing acute lymphocytic leukemia.
- These findings highlight the role of specific genetic polymorphisms in ALL susceptibility within the studied Iranian population.
