The role of the APE1 Asp148Glu polymorphism on the risk of acute myeloid leukemia in Iraqi patients
Main Article Content
Abstract
Acute myeloid leukemia is the most common hematological malignancy in adults. The uncontrolled proliferation of non-differentiating myeloid progenitors is a hallmark of this illness. Mutant cells form when DNA damage cannot be repaired by the cell's repair mechanisms. One of the DNA repair mechanisms, the base excision repair pathway. The study involved 70 patients with acute myeloid leukemia (37 females and 33 males) as well as 30 apparently healthy individuals as a control group. The gSYNCTM DNA Extraction Kit from Geneaid/Taiwan was used to extract DNA from entire blood samples from the study groups. The Restriction Fragment Length Polymorphism-PCR method was used to identify the APE1 gene's (rs1130409; Aspl48Glu, T/G in Exon 5) polymorphism. In genetic analysis, it was shown that an increase in the T/ T genotype and the T allele in the APE1 codon 148 polymorphisms play a protective role in AML, and that an increase in the G/G genotype and G allele could be associated with acute myeloid leukemia risk. The polymorphism of APE1 gene at rs1130409 revealed TG genotype and G allele as the most frequent and higher significant (P<0.05) in AML patients compared to the control group. The sequence of the studied region showed that the restriction site of the restriction enzyme is indicated by a site of diversity that is present in the GATC sequencing and transitions to the GAGC sequencing when a nucleotide change (T to G) actually occurs. Our findings suggest that the APE1 rs1130409 polymorphism may be associated with acute myeloid leukemia susceptibility in Iraqi patients. It was discovered that the polymorphic marker 148 Glu> Asp of the APE1 gene was associated with the development of AML. Allele T and genotype T/T carriers have a lower risk of developing AML, whereas allele carriers G have an increased risk.
Received 28/12/2022
Revised 07/04/2023,
Accepted 09/04/2023,
Published Online First 20/09/2023
Article Details
This work is licensed under a Creative Commons Attribution 4.0 International License.
How to Cite
References
Mahdi GJ. A Modified Support Vector Machine Classifiers Using Stochastic Gradient Descent with Application to Leukemia Cancer Type Dataset. Baghdad Sci J 2020; 17(4): 1255. https://bsj.uobaghdad.edu.iq/index.php/BSJ/article/view/4283
Kabel AM, Zamzami F. Acute Myeloid Leukemia: A focus on Risk Factors, Clinical Presentation, Diagnosis and Possible Lines of Management. Journal of Cancer Res. Treat 2017; 5(2): 62-67. http://pubs.sciepub.com/jcrt/5/2/4/
Zohreh S, Mohammad F, Alireza M, Shahrbano R, Mani R, Mohammad JS. Genetic variants of nucleotide excision repair pathway and outcomes of induction therapy in acute myeloid leukemia. Per Med 2019; 16(6): 479–490. https://doi.org/10.2217/pme-2018-0077
Grundy GJ, Parsons JL. Base excision repair and its implications to cancer therapy. Essays Biochem 2020; 64: 831–843. https://doi.org/10.1042/EBC20200013
Limpose KL, Corbett AH, Doetsch PW. BERing the burden of damage: Pathway crosstalk and posttranslational modification of base excision repair proteins regulate DNA damage management. DNA Repair (Amst) 2017; 56: 51–64. https://doi.org/10.1016/j.dnarep.2017.06.007
Ha A, Lin Y, Yan S. A non-canonical role for the DNA glycosylase NEIL3 in suppressing APE1 endonuclease-mediated ssDNA damage. J Biol Chem 2020; 295(9): 14222–14235. https://doi.org/10.1074/jbc.RA120.014228
Kusakabe M, Onishi Y, Tada H, Kurihara F, Kusao K, Furukawa M, et al. Mechanism and regulation of DNA damage recognition in nucleotide excision repair. Genes Environ 2019; 25(41): 2. https://doi.org/10.1186/s41021-019-0119-6
Rechkunova NI, Maltseva EA, Lavrik OI. Post-translational Modifications of Nucleotide Excision Repair Proteins and Their Role in the DNA Repair. Biochemistry 2019; 84(9): 1008–1020. https://doi.org/10.1134/S0006297919090037
Howlader N. SEER Cancer Statistics Review, 1975-2016, National Cancer Institute. Bethesda, MD, based on November 2018 SEER data submission, posted to the SEER web site, April 2019. https://seer.cancer.gov/archive/csr/1975_2016/
Karashdeep K, Rupinder K. Absence of APE1 (Asp148Glu) gene polymorphism in North-West Indian population: A comparison with world population. Meta Gene. 2018; 16: 208–212. https://www.sciencedirect.com/science/article/pii/S2214540018300318?via%3Dihub
Malfatti MC, Lorenzo G, Emiliano D. APE1 and NPM1 protect cancer cells from platinum compounds cytotoxicity and their expression pattern has a prognostic value in TNBC. J Exp Clin Cancer Res 2019; 38(1): 309. https://doi.org/10.1186/s13046-019-1294-9
Hu J, Selby CP, Adar S. Molecular mechanisms and genomic maps of DNA excision repair in Escherichia coli and humans. JBC 2017; 292 (38): 15588–15597. https://doi.org/10.1074/jbc.R117.807453
Mehmet BA, Mesut A, Elif S, Bireller CR, Hasan A, Zeynep K, et al. Investigation of DNA repair gene variants on myelodysplastic syndromes in a Turkish population. Med Oncol 2014; 31: 174. https://doi.org/10.1007/s12032-014-0174-6
Chen J, Jiang C, Fu L. APE1 Asp148Glu polymorphism and risk of cancer: a meta-analysis based on 52 case-control studies. PLoS One. 2013;8(3): e59579. https://doi.org/10.2147/OTT.S101456
Zhiyong Z, Chuan L, Yong Z, Lei G, Mingzhen Y, Ning W et al. The association between the APE1 Asp148Glu polymorphism and breast cancer susceptibility: a meta-analysis based on case-control studies. Tumour Biol. 2014; 35(5):4727-34. https://doi.org/10.1007/s13277-014-1618-5
Guowen D, Yu C,Huiwen P, Hao Q, Weifeng T, Shuchen C. Association between apurinic/apyrimidinic endonuclease 1 rs1760944 T>G polymorphism and susceptibility of cancer: a meta-analysis involving 21764 subjects Biosci Rep. 2019; 39(12) :1-12. https://doi.org/10.1042/BSR20190866
Karahalil B, Bohr VA, Wilson DM. Impact of DNA polymorphisms in key DNA base excision repair proteins on cancer risk. Hum Exp Toxicol. 2012; 31(10): 981–1005. https://journals.sagepub.com/doi/10.1177/0960327112444476
Karashdeep K, Rupinder K. Absence of APE1 (Asp148Glu) gene polymorphism in North-West Indian population: A comparison with world population. Meta Gene 2018; 16: 208–212. https://doi.org/10.1016/j.mgene.2018.03.004
Hung JR, Janet H, Paul B, Paolo B. Genetic Polymorphisms in the Base Excision Repair Pathway and Cancer Risk. A HuGE Review, A J E 2005; 162: 925–942. https://doi.org/10.1093/aje/kwi318
Turkey EF, Hamad AG, AL-Mansoori AK. The Association of Prothrombin Gene Mutations and Cytomegalovirus Infection with Abortion Among Iraqi Women. Baghdad Sci J 2022; 19(4): 0768. https://bsj.uobaghdad.edu.iq/index.php/BSJ/article/view/6233
Lisa L, Giulia A, Pasqualina LS, Daniela M , Emiliano D , Chiara DA, et al. Cleavage of the APE1 N-Terminal Domain in Acute Myeloid Leukemia Cells Is Associated with Proteasomal Activity. Biomolecules 2020; 10: 531. https://doi.org/10.3390/biom10040531
Thakur S, Dhiman M, Tell G, Mantha AK. A review on protein–protein interaction network of APE1/Ref-1and its associated biological functions. Cell Biochem Funct. 2015; 33: 101–112. https://doi.org/10.1002/cbf.3100
Shah F, Logsdon D, Messmann RA, Fehrenbacher JC, Fishel ML, Kelley MR. Exploiting the Ref-1-APE1 node in cancer signaling and other diseases: From bench to clinic. Npj Precis Oncol. 2017; 1: 19. https://doi.org/10.1038/s41698-017-0023-0
Ding J, Fishel ML, Reed AM, McAdams E, Czader M, Cardoso AA, et al. Ref-1/APE1 as Transcriptional Regulator and Novel Therapeutic Target in Pediatric T-cell Leukemia. Mol Cancer. 2017; 16: 1401–1411. https://doi.org/10.1158/1535-7163.MCT-17-0099
Burra S, Marasco D, Malfatti MC, Antoniali G, Virgilio A, Esposito V, et al. Tell G. Human AP-endonuclease (Ape1) activity on telomeric G4 structures is modulated by acetylatable lysine residues in the N-terminal sequence. DNA Repair. 2019; 73: 129–143. https://doi.org/10.1016/j.dnarep.2018.11.010
Hu JJ, Smith TR, Miller MS. Amino acid substitution variants of APE1 and XRCC1 genes associated with ionizing radiation sensitivity. Carcinogenesis 2001; 22: 917-922. https://doi.org/10.1093/carcin/22.6.917
Ruyck K, Szaumkessel M, De Rudder I. Polymorphisms in base-excision repair and nucleotide-excision repair genes in relation to lung cancer risk. Mutat Res. 2007; 631(2): 101-110. https://doi.org/10.1016/j.mrgentox.2007.03.010
Shen H, Spitz MR, Qiao Y. Smoking, DNA repair capacity and risk of non-small cell lung cancer. Int J Cancer. 2003; 107: 84-88. https://doi.org/10.1002/ijc.11346
Amit KM, Neetu S, Ashok S, Vivek KG, Amit A, Mandira S, et al. Association of Polymorphisms in Base Excision Repair Genes With the Risk of Breast Cancer: A Case-Control Study in North Indian Women. Oncol. Res. 2008; 17: 127–135. https://doi.org/10.3727/096504008785055567
Tasha RS, Edward AL, Rita IF, Steven AA, Glenn OA, Kimberly NH, et al. Polygenic model of DNA repair genetic polymorphisms in human breast cancer risk. Carcinogenesis 2008; 29 (11): 2132–2138. https://doi.org/10.1093/carcin/bgn193
Canbay E, Bedia C, Umit Z , Seyma SC , Mine G , Emre B, et al. Association of APE1 and hOGG1 polymorphisms with colorectal cancer risk in a Turkish Population. Curr Med Res Opin 2011; 27( 7): 1295–1302. https://doi.org/10.1185/03007995.2011.573544
Xiaohong Z, Xiaoyan X, Jianfang Z, Jia L, Biliang C, Wei Z. Apurinic/Apyrimidinic Endonuclease 1 Polymorphisms Are Associated With Ovarian Cancer Susceptibility in a Chinese Population. IJGC 2013; 23(8): 1393-1399. DOI: https://doi.org/10.1097/IGC.0b013e3182a33f07
Mustafa MA. Association Between Ape1 Gene And Lung Cancer In Iraqi Population. Wiad Lek. 2021; 74(9): 2255-2258. https://pubmed.ncbi.nlm.nih.gov/34824168/
Atsushi I, Takayuki S, Yasuhiro N, Batchimeg N, Chiharu O, Akira K, et al. The Polymorphisms Of Base Excision Repair Genes Influence The Cytogenetic Risk Factors In Acute Myeloid Leukemia. Blood 2013; 122 (21) : 1355. https://doi.org/10.1182/blood.V122.21.1355.1355
Ana SC, Gilda A, Antonio AO, José S, Renata A, Luciano S, et al. Relationship between XPD, RAD51, and APEX1 DNA repair genotypes and prostate cancer risk in the male population of Rio de Janeiro, Genet. Mol. Biol 2017; 40(4): 751-758. https://doi.org/10.1590/1678-4685-GMB-2017-0039