Caspase-9 rs1052576 Polymorphism is not Associated with Glioblastoma in Turkish Patients

Year 2022, , 108 - 112, 31.12.2022

Deryanaz Billur , Fatma Tuba Akdeniz , Seda Güleç , Zerrin Barut , Cumhur Kaan Yaltırık , Turgay İşbir

https://doi.org/10.26650/experimed.1183865

Abstract

Objective: As an aggressive type of brain cancer, glioblastoma remains obscure with its short survival time and unclear molecular architecture. Single nucleotide polymorphisms (SNPs), such as those located in the regions of the caspase-9 gene (CASP9), have been reported to be associated with genetic susceptibility to glioblastoma. There is no exact result on the effect of CASP9 SNP rs1052576 on glioblastoma and its biomarker candidacy for the Turkish population. Investigating the polymorphism of the exon 5 (+32 G/A) region of the CASP9 in glioblastoma patients in the Turkish population was the aim of this study.

Materials and Methods: Real-time polymerase chain reaction (RT-PCR) method on blood samples of glioblastoma patients (n=33) and healthy controls (n=35) were used to analyze CASP9 SNP rs1052576. Statistical data were obtained using SPSS v.23 software.

Results: For CASP9 rs1052576, no evidence was found of its role in glioblastoma (p=0.594).

Conclusion: This study was designed to determine the association between glioblastoma and CASP9 SNP rs1052576 within the Turkish population. Our results indicated that CASP9 SNP rs1052576 is not related to glioblastoma in Turkish patients. To clarify these results, further studies with a larger sample size are needed.

Keywords

Caspase9, Glioblastoma, Polymorphism, rs1052576

References

• 1. Ostrom QT, Patil N, Cioffi G, Waite K, Kruchko C, Barnholtz-Sloan JS. CBTRUS Statistical report: primary brain and other central nervous system tumors diagnosed in the United States in 20132017 Neuro Oncol 2020; 22(12 Suppl 2): iv1-iv96. [CrossRef] google scholar
• 2. Ostrom QT, Gittleman H, Farah P, Ondracek A, Chen Y, Wolinsky Y, et al. CBTRUS statistical report: primary brain and central nervous system tumors diagnosed in the United States in 2012-2016. Neuro Oncol 2019; 25(S5): 1-100. [CrossRef] google scholar
• 3. Hanif F, Muzaffar K, Perveen K, Malhi SM, Simjee ShU. Glioblastoma multiforme. A review of its epidemiology and pathogenesis through clinical presentation and treatment. Asian Pac J Cancer Prev 1 2017; 18(1): 3-9. google scholar
• 4. D'Alessio A, Proietti G, Sica G, Scicchitano BM. Pathological and molecular features of glioblastoma and its peritumoral tissue. Cancers (Basel) 2019; 11(4): 469. [CrossRef] google scholar
• 5. Crespo I, Vital AL, Gonzalez-Tablas M, Patino Mdel C, Otero A, Lopes MC, de Oliveira C, Domingues P, et al. Molecular and genomic alterations in glioblastoma multiforme. Am J Pathol 2015; 185(7):1820-33. [CrossRef] google scholar
• 6. Haque A, Banik NL, Ray SK. Molecular alterations in glioblastoma: Potential targets for immunotherapy. Prog Mol Biol Transl Sci 2011; 98: 187-234. [CrossRef] google scholar
• 7. Valdes-Rives SA, Casique-Aguirre D, German-Castelan L, Velasco-Velazquez MA, Gonzalez-Arenas A. Apoptotic signaling pathways in glioblastoma and therapeutic implications. Biomed Res Int 2017; 7403747. [CrossRef] google scholar
• 8. Olsson M, Zhivotovsky B. Caspases and cancer. Cell Death Differ 2011; 18(9): 1441-9. [CrossRef] google scholar
• 9. McIlwain DR, Berger T, Mak TW. Caspase functions in cell death and disease. Cold Spring Harb Perspect Biol 2013; 5(4): a008656. [CrossRef] google scholar
• 10. Mohammad RM, Muqbil I, Lowe L, Yedjou C, Hsu HY, Lin LT, et al. Broad targeting of resistance to apoptosis in cancer. Semin Cancer Biol 2015; 35 Suppl(0): S78-S103. [CrossRef] google scholar
• 11. Avrutsky MI, Troy CM. Caspase-9. A multimodal therapeutic target with diverse cellular expression in human disease. Front Pharmacol 2021; 12: 701301. [CrossRef] google scholar
• 12. Abel F, Sjöberg RM, Ejeskar K, Krona C, Martinsson T. Analyses of apoptotic regulators CASP9 and DFFA at 1P36.2, reveal rare allele variants in human neuroblastoma tumours. Br J Cancer 2002; 86(4): 596-604. [CrossRef] google scholar
• 13. National Library of Medicine, NCBI Databases. Available from: URL: // www.ncbi.nlm.nih.gov/pubmed/?term=caspase+9+polymorphism google scholar
• 14. Xu W, Jiang S, Xu Y, Chen B, Li Y, Zong F, et al. A meta-analysis of caspase 9 polymorphisms in promoter and exon sequence on cancer susceptibility. PLoS One 2012; 7(5): e37443. [CrossRef] google scholar
• 15. Hirano A, Nagai H, Harada H, Haga S, Kajiwara T, Emi M. Two novel single-nucleotide polymorphisms of the Caspase-9 (CASP9) gene in the Japanese population. Genes Immun 2001; 2(2): 117-8. [CrossRef] google scholar
• 16. Andreoli V, Trecroci F, La Russa A, Valentino P, Condino F, Latorre V et al. CASP-9. A susceptibility locus for multiple sclerosis in Italy. J Neuroimmunol 2009; 210(1-2): 100-3. [CrossRef] google scholar
• 17. Hosgood HD 3rd, Baris D, Zhang Y, Zhu Y, Zheng T, Yeager M, et al. Caspase polymorphisms and genetic susceptibility to multiple myeloma. Hematol Oncol 2008; 26(3): 148-51. [CrossRef] google scholar
• 18. Lan Q, Zheng T, Chanock S, Zhang Y, Shen M, Wang SS, et al. Genetic variants in caspase genes and susceptibility to non-Hodgkin lymphoma. Carcinogenesis 2007; 28(4): 823-7. [CrossRef] google scholar
• 19. Zhang ZY, Xuan Y, Jin XY, Tian X, Wu R. CASP-9 gene functional polymorphisms and cancer risk: a large-scale association study plus meta-analysis. Genet Mol Res 2013; 12(3): 3070-8. [CrossRef] google scholar
• 20. Yan S, Li YZ, Zhu XW, Liu CL, Wang P, Liu YL. Role of the CASP-9 Ex5+32 G>A polymorphism in susceptibility to cancer: A meta-analysis. Exp Ther Med 2013; 5(1): 175-80. [CrossRef] google scholar
• 21. Ozdogan S, Kafadar A, Yilmaz SG, Timirci-Kahraman O, Gormus U, Isbir T. Role of Caspase-9 Gene Ex5+32 G>A (rs1052576) variant in susceptibility to primary brain tumors. Anticancer Res 2017; 37(9): 4997-5000. [CrossRef] google scholar