Araştırma Makalesi
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Association of EGFR Gene Polymorphism with Glioma Susceptibility in Turkish Population

Yıl 2023, Cilt: 13 Sayı: 1, 54 - 58, 11.05.2023
https://doi.org/10.26650/experimed.1232534

Öz

Objective: Gliomas are devastating adult brain tumors of unknown etiology, occupying 8 out of 10 primary brain tumors. Epidermal growth factor receptor (EGFR) as a tyrosine kinase family member is encoded by the EGFR gene located in chromosome 7p12-13. Various studies have identified numerous SNPs, including those in the EGFR gene, as linked to gliomas. The objective of the investigation was to determine whether the genotype and allele frequencies of the EGFR may have a role in glioma susceptibility.
Materials and Methods: To examine the association of EGFR SNP rs1468727 with glioma susceptibility in a case-control study from Türkiye (34 cases, 36 controls), genotyping and statistical analyses were performed by using real-time-polymerase chain reaction (RT-PCR) and SPSS version 25.0, respectively.
Results: A significant relationship was found between the study groups EGFR SNP rs1468727 genotypes (p = 0.028). The CC genotype frequency was significantly greater in the control group compared to the glioma group (p=0.005). When compared with the control group, the frequency of mutant type T allele carriers was significantly higher in glioma patients (p=0.012).
Conclusion: As a result of the preliminary findings, having the mutant T allele may increase risk by 3.36 times, whereas having the ancestral homozygote CC genotype lowers the risk for glioma in Turkish population.

Kaynakça

  • 1. Ostrom, QT, Francis SS, Barnholtz-Sloan JS. Epidemiology of brain and other CNS tumors. Curr Neurol Neurosci Rep 2021; 21(12): 68. [CrossRef] google scholar
  • 2. Mayer O, Bugis J, Kozlova D, Leemann A, Mansur S, Peerutin I, et al. Cytoskeletal protein palladin in adult gliomas predicts disease incidence, progression, and prognosis. Cancers 2022; 14(20): 5130. [CrossRef] google scholar
  • 3. Finch A, Solomou G, Wykes V, Pohl U, Bardella C, Watts C. Advances in research of adult gliomas. Int J Mol Sci 2021; 22(2): 924. [CrossRef] google scholar
  • 4. Molinaro AM, Taylor JW, Wiencke JK, Wrensch MR. Genetic and molecular epidemiology of adult diffuse glioma. Nat Rev Neurol 2019; 15(7): 405-17. [CrossRef] google scholar
  • 5. Kinnersley B, Houlston RS, Bondy ML. Genome-wide association studies in glioma. Cancer Epidemiol Biomarkers Prev 2018; 27(4): 418-28. [CrossRef] google scholar
  • 6. Li B, Zhao W, Li J, Yan M, Xie Z, Zhu Y, et al. Effect of epidermal growth factor receptor gene polymorphisms on prognosis in glioma patients. Oncotarget 2016; 7(39): 63054-64. [CrossRef] google scholar
  • 7. Arienti C, Pignatta S and Tesei A. Epidermal growth factor receptor family and its role in gastric cancer. Front Oncol 2019; 9: 1308. [CrossRef] google scholar
  • 8. Hajdu T, Varadi T, Rebenku I, Kovacs T, Szöllösi J, Nagy P. Comprehensive model for epidermal growth factor receptor ligand binding involving conformational states of the extracellular and the kinase domains. Front Cell Dev Biol 2020; 8: 776. [CrossRef] google scholar
  • 9. Hatanpaa KJ, Burma S, Zhao D, Habib AA. Epidermal growth factor receptor in glioma: signal transduction, neuropathology, imaging, and radioresistance. Neoplasia 2010; 12(9): 675-84. [CrossRef] google scholar
  • 10. Taylor TE, Furnari FB, Cavenee WK. Targeting EGFR for treatment of glioblastoma: molecular basis to overcome resistance. Curr Cancer Drug Targets 2012; 12(3): 197-209. [CrossRef] google scholar
  • 11. Lee A, Arasaratnam M, Chan DLH, Khasraw M, Howell VM, Wheeler H. Anti-epidermal growth factor receptor therapy for glioblastoma in adults. Cochrane Database Syst Rev 2020; 5(5): CD013238. [CrossRef] google scholar
  • 12. Oktay Y. Ulgen E, Can O, Akyerli C, Yuksel S, Erdemgil Y, et al. IDH-mutant glioma specific association of rs55705857 located at 8q24.21 involves MYC deregulation. Sci Rep 2016; 6: 27569. [CrossRef] google scholar
  • 13. Ozden M, Katar S, Hanimoglu H, Ulu MO, Isler C, Baran O, et al. Polymorphisms in the matrix metalloproteinase-9 promoters and susceptibility to glial tumors in Turkey. Turk Neurosurg 2017; 27(5): 690-5. [CrossRef] google scholar
  • 14. Ozdogan S, Kafadar A, Gulec Yılmaz S, Tımırcı-Kahraman O, Gormus U, Isbır T. Role of caspase-9 gene Ex5+32 G>A (rs1052576) variant in susceptibility to primary brain tumors. Anticancer Research 2017; 37 (9): 4997-5000. [CrossRef] google scholar
  • 15. Billur D, Akdeniz FT, Güleç Yılmaz S, Barut Z, Yaltırık CK, İsbir T. Caspase-9 rs1052576 polymorphism is not associated with glioblastoma in Turkish patients. Experimed 2022; 12(3): 108-12. [CrossRef] google scholar
  • 16. Pham D, Kris MG, Riely GJ, Sarkaria IS, McDonough T, Chuai S, et al. Use of cigarette-smoking history to estimate the likelihood of mutations in epidermal growth factor receptor gene exons 19 and 21 in lung adenocarcinomas. J Clin Oncol 2006; 24: 1700-04. [CrossRef] google scholar
  • 17. Jami MS, Hemati S, Salehi Z, Tavassoli M. Association between the length of a CA dinucleotide repeat in the EGFR and risk of breast cancer. Cancer Invest 2008; 26: 434-7. [CrossRef] google scholar
  • 18. Yano S, Kondo K, Yamaguchi M, Richmond G, Hutchison M, Wakeling A, et al. Distribution and function of EGFR in human tissue and the effect of EGFR tyrosine kinase inhibition. Anticancer Res 2003; 23: 3639-50. google scholar
  • 19. Bienkowski M, Piaskowski S, Stoczynska-Fidelus E, Szybka M, Banaszczyk M,Witusik-Perkowska M, et al. Screening for EGFR amplifications with a novel method and their significance for the outcome of glioblastoma patients. PloS one 2013; 8: e65444. [CrossRef] google scholar
  • 20. Sjostrom S, Andersson U, Liu Y, Brannstrom T, Broholm H, Johansen C, et al. Genetic variations in EGF and EGFR and glioblastoma outcome. Neuro Oncol 2010; 12: 815-21. [CrossRef] google scholar
  • 21. Waha A, Baumann A, Wolf HK, Fimmers R, Neumann J, Kindermann D, et al. Lack of prognostic relevance of alterations in the epidermal growth factor receptor-transforming growth factoralpha pathway in human astrocytic gliomas. J Neurosurgery 1996; 85: 634-41. [CrossRef] google scholar
  • 22. Hou WG, Ai WB, Bai XG, Dong HL, Li Z, Zhang YQ, Xiong LZ. Genetic variation in the EGFR gene and the risk ofglioma in a Chinese Han population. PLoS One 2012; 7(5): e37531. [CrossRef] google scholar
  • 23. Yan M, Li J, He N, Shi X, Du S, Li B, Jin T. A case-control study of the association between the EGFR gene and glioma risk in a Chinese Han population. Oncotarget 2017; 7; 8(35): 59823-30. [CrossRef] google scholar
  • 24. Wang X, Zhang H, Wang D, Li X. Association of genetic polymorphisms of EGFR with glioma in a Chinese population. Genet Test Mol Biomarkers 2015; 19(1): 59-62. [CrossRef] google scholar
  • 25. Yu, X, Sun NR, Jang HT, Guo SW, Lian MX. Associations between EGFR gene polymorphisms and susceptibility to glioma: a systematic review and meta-analysis from GWAS and case-control studies. Oncotarget 2017; 8(49), 86877-85. [CrossRef] google scholar
  • 26. Liu HB, Peng YP, Dou CW, Su XL, Gao NK, et al. Comprehensive study on associations between nine SNPs and glioma risk. Asian Pac J Cancer Prev 2012; 13: 4905-08. [CrossRef] google scholar
  • 27. Andersson U, Schwartzbaum J, Wiklund F, Sjöström S, Liu Y, Tsavachidis S, et al. A comprehensive study of the association between the EGFR and ERBB2 genes and glioma risk. Acta Oncol 2010; 49:767-75. [CrossRef] google scholar
  • 28. Baek IK, Cheong HS, Namgoong S, Kim JH, Kang SG, Yoon SJ, et al. Two independent variants of epidermal growth factor receptor associated with risk of glioma in a Korean population. Sci Rep 2022; 12(1): 19014. [CrossRef] google scholar
Yıl 2023, Cilt: 13 Sayı: 1, 54 - 58, 11.05.2023
https://doi.org/10.26650/experimed.1232534

Öz

Kaynakça

  • 1. Ostrom, QT, Francis SS, Barnholtz-Sloan JS. Epidemiology of brain and other CNS tumors. Curr Neurol Neurosci Rep 2021; 21(12): 68. [CrossRef] google scholar
  • 2. Mayer O, Bugis J, Kozlova D, Leemann A, Mansur S, Peerutin I, et al. Cytoskeletal protein palladin in adult gliomas predicts disease incidence, progression, and prognosis. Cancers 2022; 14(20): 5130. [CrossRef] google scholar
  • 3. Finch A, Solomou G, Wykes V, Pohl U, Bardella C, Watts C. Advances in research of adult gliomas. Int J Mol Sci 2021; 22(2): 924. [CrossRef] google scholar
  • 4. Molinaro AM, Taylor JW, Wiencke JK, Wrensch MR. Genetic and molecular epidemiology of adult diffuse glioma. Nat Rev Neurol 2019; 15(7): 405-17. [CrossRef] google scholar
  • 5. Kinnersley B, Houlston RS, Bondy ML. Genome-wide association studies in glioma. Cancer Epidemiol Biomarkers Prev 2018; 27(4): 418-28. [CrossRef] google scholar
  • 6. Li B, Zhao W, Li J, Yan M, Xie Z, Zhu Y, et al. Effect of epidermal growth factor receptor gene polymorphisms on prognosis in glioma patients. Oncotarget 2016; 7(39): 63054-64. [CrossRef] google scholar
  • 7. Arienti C, Pignatta S and Tesei A. Epidermal growth factor receptor family and its role in gastric cancer. Front Oncol 2019; 9: 1308. [CrossRef] google scholar
  • 8. Hajdu T, Varadi T, Rebenku I, Kovacs T, Szöllösi J, Nagy P. Comprehensive model for epidermal growth factor receptor ligand binding involving conformational states of the extracellular and the kinase domains. Front Cell Dev Biol 2020; 8: 776. [CrossRef] google scholar
  • 9. Hatanpaa KJ, Burma S, Zhao D, Habib AA. Epidermal growth factor receptor in glioma: signal transduction, neuropathology, imaging, and radioresistance. Neoplasia 2010; 12(9): 675-84. [CrossRef] google scholar
  • 10. Taylor TE, Furnari FB, Cavenee WK. Targeting EGFR for treatment of glioblastoma: molecular basis to overcome resistance. Curr Cancer Drug Targets 2012; 12(3): 197-209. [CrossRef] google scholar
  • 11. Lee A, Arasaratnam M, Chan DLH, Khasraw M, Howell VM, Wheeler H. Anti-epidermal growth factor receptor therapy for glioblastoma in adults. Cochrane Database Syst Rev 2020; 5(5): CD013238. [CrossRef] google scholar
  • 12. Oktay Y. Ulgen E, Can O, Akyerli C, Yuksel S, Erdemgil Y, et al. IDH-mutant glioma specific association of rs55705857 located at 8q24.21 involves MYC deregulation. Sci Rep 2016; 6: 27569. [CrossRef] google scholar
  • 13. Ozden M, Katar S, Hanimoglu H, Ulu MO, Isler C, Baran O, et al. Polymorphisms in the matrix metalloproteinase-9 promoters and susceptibility to glial tumors in Turkey. Turk Neurosurg 2017; 27(5): 690-5. [CrossRef] google scholar
  • 14. Ozdogan S, Kafadar A, Gulec Yılmaz S, Tımırcı-Kahraman O, Gormus U, Isbır T. Role of caspase-9 gene Ex5+32 G>A (rs1052576) variant in susceptibility to primary brain tumors. Anticancer Research 2017; 37 (9): 4997-5000. [CrossRef] google scholar
  • 15. Billur D, Akdeniz FT, Güleç Yılmaz S, Barut Z, Yaltırık CK, İsbir T. Caspase-9 rs1052576 polymorphism is not associated with glioblastoma in Turkish patients. Experimed 2022; 12(3): 108-12. [CrossRef] google scholar
  • 16. Pham D, Kris MG, Riely GJ, Sarkaria IS, McDonough T, Chuai S, et al. Use of cigarette-smoking history to estimate the likelihood of mutations in epidermal growth factor receptor gene exons 19 and 21 in lung adenocarcinomas. J Clin Oncol 2006; 24: 1700-04. [CrossRef] google scholar
  • 17. Jami MS, Hemati S, Salehi Z, Tavassoli M. Association between the length of a CA dinucleotide repeat in the EGFR and risk of breast cancer. Cancer Invest 2008; 26: 434-7. [CrossRef] google scholar
  • 18. Yano S, Kondo K, Yamaguchi M, Richmond G, Hutchison M, Wakeling A, et al. Distribution and function of EGFR in human tissue and the effect of EGFR tyrosine kinase inhibition. Anticancer Res 2003; 23: 3639-50. google scholar
  • 19. Bienkowski M, Piaskowski S, Stoczynska-Fidelus E, Szybka M, Banaszczyk M,Witusik-Perkowska M, et al. Screening for EGFR amplifications with a novel method and their significance for the outcome of glioblastoma patients. PloS one 2013; 8: e65444. [CrossRef] google scholar
  • 20. Sjostrom S, Andersson U, Liu Y, Brannstrom T, Broholm H, Johansen C, et al. Genetic variations in EGF and EGFR and glioblastoma outcome. Neuro Oncol 2010; 12: 815-21. [CrossRef] google scholar
  • 21. Waha A, Baumann A, Wolf HK, Fimmers R, Neumann J, Kindermann D, et al. Lack of prognostic relevance of alterations in the epidermal growth factor receptor-transforming growth factoralpha pathway in human astrocytic gliomas. J Neurosurgery 1996; 85: 634-41. [CrossRef] google scholar
  • 22. Hou WG, Ai WB, Bai XG, Dong HL, Li Z, Zhang YQ, Xiong LZ. Genetic variation in the EGFR gene and the risk ofglioma in a Chinese Han population. PLoS One 2012; 7(5): e37531. [CrossRef] google scholar
  • 23. Yan M, Li J, He N, Shi X, Du S, Li B, Jin T. A case-control study of the association between the EGFR gene and glioma risk in a Chinese Han population. Oncotarget 2017; 7; 8(35): 59823-30. [CrossRef] google scholar
  • 24. Wang X, Zhang H, Wang D, Li X. Association of genetic polymorphisms of EGFR with glioma in a Chinese population. Genet Test Mol Biomarkers 2015; 19(1): 59-62. [CrossRef] google scholar
  • 25. Yu, X, Sun NR, Jang HT, Guo SW, Lian MX. Associations between EGFR gene polymorphisms and susceptibility to glioma: a systematic review and meta-analysis from GWAS and case-control studies. Oncotarget 2017; 8(49), 86877-85. [CrossRef] google scholar
  • 26. Liu HB, Peng YP, Dou CW, Su XL, Gao NK, et al. Comprehensive study on associations between nine SNPs and glioma risk. Asian Pac J Cancer Prev 2012; 13: 4905-08. [CrossRef] google scholar
  • 27. Andersson U, Schwartzbaum J, Wiklund F, Sjöström S, Liu Y, Tsavachidis S, et al. A comprehensive study of the association between the EGFR and ERBB2 genes and glioma risk. Acta Oncol 2010; 49:767-75. [CrossRef] google scholar
  • 28. Baek IK, Cheong HS, Namgoong S, Kim JH, Kang SG, Yoon SJ, et al. Two independent variants of epidermal growth factor receptor associated with risk of glioma in a Korean population. Sci Rep 2022; 12(1): 19014. [CrossRef] google scholar
Toplam 28 adet kaynakça vardır.

Ayrıntılar

Birincil Dil İngilizce
Konular Klinik Tıp Bilimleri
Bölüm Araştırma Makalesi
Yazarlar

Gozde Ozcan 0000-0001-6370-2980

Fatma Tuba Akdeniz 0000-0002-6076-0509

Seda Güleç 0000-0002-8119-2862

Zerrin Barut 0000-0002-6289-5562

Deryanaz Billur 0000-0002-6079-8224

Turgay İsbir 0000-0002-7350-6032

Cumhur Kaan Yaltırık 0000-0002-4312-5685

Yayımlanma Tarihi 11 Mayıs 2023
Gönderilme Tarihi 11 Ocak 2023
Yayımlandığı Sayı Yıl 2023 Cilt: 13 Sayı: 1

Kaynak Göster

Vancouver Ozcan G, Akdeniz FT, Güleç S, Barut Z, Billur D, İsbir T, Yaltırık CK. Association of EGFR Gene Polymorphism with Glioma Susceptibility in Turkish Population. Experimed. 2023;13(1):54-8.