Association between polymorphisms of A251G and 50bp insertion/deletion in SOD1 gene with the risk of acute myeloid leukemia

Document Type : Research Paper

Authors

1 Department of Biology, Arsanjan branch, Islamic Azad University, Arsanjan, Iran.

2 Department of Biology, Arsanjan branch, Islamic Azad University, Arsanjan, Iran(Corresponding Auothor)

Abstract

Backgrounds and aim: Acute myeloid leukemia (AML) is a form of cancer characterized by the presence of cells with abnormal differentiation into blood, bone marrow and other body tissues. In AML, blood cells accumulate in the bone marrow, over-producing of oxygen, which can lead to oxidative stress. The aim of this study was to investigate the association of A251G and 50bp del polymorphisms in SOD1 gene with the risk of AML.
Methods and Materials: In this case-control study, 200 patients with AML cancer were selected as the patient group and 200 healthy individuals as the control group. The genotypes of A251G single nucleotide polymorphism of SOD1 gene were determined by PCR-RFLP method and Ins / Del 50bp polymorphism of SOD1 gene was determined by conventional PCR method.
Results: The results showed that there was a significant difference between A251G polymorphism AG + GG genotypes (P <0.001) and Ins / Del 50bp polymorphism ID + DD (P = 0. 04) between the control and patient groups.
Conclusion: In conclusion, it was found that both selected polymorphisms are associated with a reduced risk of AML.

Keywords

Main Subjects

References

1. Kantarjian H, Kadia T, DiNardo C, Daver N, Borthakur G, Jabbour E, et al. Acute myeloid leukemia: Current progress and future directions. Blood cancer journal. 2021;11(2):1-25.
2. Shallis RM, Wang R, Davidoff A, Ma X, Zeidan AM. Epidemiology of acute myeloid leukemia: recent progress and enduring challenges. Blood reviews. 2019;36:70-87.
3. Kirtonia A, Pandya G, Sethi G, Pandey AK, Das BC, Garg M. A comprehensive review of genetic alterations and molecular targeted therapies for the implementation of personalized medicine in acute myeloid leukemia. Journal of molecular medicine. 2020;98(8):1069-91.
4. Sillar JR, Germon ZP, De Iuliis GN, Dun MD. The role of reactive oxygen species in acute myeloid leukaemia. International journal of molecular sciences. 2019;20(23):6003.
5. Müller K, Oh K-W, Nordin A, Panthi S, Kim SH, Nordin F, et al. De novo mutations in SOD1 are a cause of ALS. Journal of Neurology, Neurosurgery & Psychiatry. 2022;93(2):201-6.
6. Cooper-Knock J. Implications of confirmed de novo pathogenic SOD1 mutations. BMJ Publishing Group Ltd; 2022. p. 118-.
7. Lin C-H, Vu JP, Yang C-Y, Sirisawad M, Chen C-T, Dao H, et al. Glutamate-cysteine ligase catalytic subunit as a therapeutic target in acute myeloid leukemia and solid tumors. American Journal of Cancer Research. 2021;11(6):2911.
8. Milani P, Gagliardi S, Cova E, Cereda C. SOD1 transcriptional and posttranscriptional regulation and its potential implications in ALS. Neurology research international. 2011;2011.
9. Zelko IN, Mariani TJ, Folz RJ. Superoxide dismutase multigene family: a comparison of the CuZn-SOD (SOD1), Mn-SOD (SOD2), and EC-SOD (SOD3) gene structures, evolution, and expression. Free Radical Biology and Medicine. 2002;33(3):337-49.
10. Namdari S, Saadat M. Susceptibility to preeclampsia is associated with a 50-bp insertion/deletion polymorphism at the promoter region of the SOD1 gene. Journal of the Turkish German Gynecological Association. 2021;22(4):268.
11. Eisen A, Mezei MM, Stewart HG, Fabros M, Gibson G, Andersen PM. SOD1 gene mutations in ALS patients from British Columbia, Canada: clinical features, neurophysiology and ethical issues in management. Amyotrophic lateral sclerosis. 2008;9(2):108-19.
12. Milani P, Amadio M, Laforenza U, Dell'Orco M, Diamanti L, Sardone V, et al. Posttranscriptional regulation of SOD1 gene expression under oxidative stress: Potential role of ELAV proteins in sporadic ALS. Neurobiology of disease. 2013;60:51-60.
13. Vetrie D, Helgason GV, Copland M. The leukaemia stem cell: similarities, differences and clinical prospects in CML and AML. Nature Reviews Cancer. 2020;20(3):158-73.
14. Liu Q, Hua M, Yan S, Zhang C, Wang R, Yang X, et al. Immunorelated gene polymorphisms associated with acute myeloid leukemia. Clinical & Experimental Immunology. 2020;201(3):266-78.
15. Barzegar M, Farsan MA, Amiri V, Mohammadi S, Shahsavan S, Mirzaeian A, et al. AML-derived extracellular vesicles confer de novo chemoresistance to leukemic myeloblast cells by promoting drug export genes expression and ROS inhibition. Iranian Journal of Pharmaceutical Research: IJPR. 2021;20(1):384.
16. Broom WJ, Greenway M, Sadri-Vakili G, Russ C, Auwarter KE, Glajch KE, et al. 50bp deletion in the promoter for superoxide dismutase 1 (SOD1) reduces SOD1 expression in vitro and may correlate with increased age of onset of sporadic amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis. 2008;9(4):229-37.
17. Cebrian A, Pharoah PD, Ahmed S, Smith PL, Luccarini C, Luben R, et al. Tagging single-nucleotide polymorphisms in antioxidant defense enzymes and susceptibility to breast cancer. Cancer research. 2006;66(2):1225-33.
18. Spisak K, Klimkowicz-Mrowiec A, Pera J, Dziedzic T, Aleksandra G, Slowik A. rs2070424 of the SOD1 gene is associated with risk of Alzheimer's disease. Neurologia i neurochirurgia polska. 2014;48(5):342-5.
19. Ebrahimpour S, Saadat I. Association of CAT C-262T and SOD1 A251G single nucleotide polymorphisms susceptible to gastric cancer. Molecular Biology Research Communications. 2014;3(4):223.
Medical Journal of Mashhad university of Medical Sciences
Volume 65, Issue 6
January and February 2023
Pages 2333-2339

Files

Share

How to cite

Statistics