Interaction of Arg194Trp and Arg399Gln genotypes with the risk of radiation on cancer patients
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Abstract. Surniyantoro HNE, Rahajeng N, Lusiyanti Y, Rahardjo T, Erawati D, Choridah L, Dhamiyati W, Dwidanarti SR. 2019. Interaction of Arg194Trp and Arg399Gln genotypes with the risk of radiation on cancer patients. Biodiversitas 20: 2128-2133. Two of the common single-nucleotide polymorphisms are X-ray repair cross-complementary group 1 on exon 6 (Arg194Trp) and exon 10 (Arg399Gln). The purpose of this study was to determine the interactions between Arg194Trp and Arg399Gln genotypes combination with the risk of radiation on cancer patients in Indonesia, linked to micronuclei frequency as a biomarker of DNA damage. This study consisted of 19 patients with various cancer as the case group and 37 non-cancer participants as the control group. The determination of Arg149Trp and Arg399Gln alleles were performed using Polymerase Chain Reaction-Restriction Fragment Length Polymorphism. Micronuclei assay was performed using Cytokinesis-block micronuclei cytome assay. The results of our study showed that micronuclei frequency was very significantly higher in the cancer patients compared to controls (111.16 ± 76.24 versus 16.89 ± 9.72, p<0.0001). Patients with heterozygous mutant genotypes CT had a lower frequency of micronuclei than patients with normal CC genotypes (105.6 ± 80.97 versus 117.33 ± 74.97). Likewise, patients with mutant genotype AA had a lower frequency of micronuclei than patients with normal GG genotype (64 versus 129.71 ± 90.68). The genetic polymorphisms of Arg194Trp and Arg399Gln demonstrated an association with the level of DNA damage on cancer patients.
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References
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Surniyantoro HNE, Sadewa AH, Hastuti P, 2018a. Uncoupling protein 2 (UCP2) as genetic risk factor for obesity in Indonesia is different in gender stratification. Kobe J Med Sci 64(2):64-72.
Surniyantoro HNE, Lusiyanti Y, Rahardjo T, Tetriana D, Nurhayati S, Date H. 2018b. Polymorphism of XRCC1 Gene Exon 6 (Arg194Trp) in Relation to Micronucleus Frequencies in Hospital Radiation Workers. Atom Indonesia 44 (2): 105-11.
Surniyantoro HNE, Lusiyanti Y, Rahardjo T, Nurhayati S, Tetriana D. 2018c. Association between XRCC1 exon 10 (Arg399Gln) gene polymorphism and micronucleus as a predictor of DNA damage among radiation workers. Biodiversitas 19 (5): 1676-82.
Wallace SS, Murphy DL, Sweasy JB. 2012. Base excision repair and cancer. Cancer Lett 327(1-2): 73–89.
Wells OS, El-Khamisy SF. 2015. Autosomal recessive ataxias due to defects in DNA repair. Movement Disorders 1033–41.
Widel M, Jedrus S, Owczarek S, Konopacka M, Lubecka B, Ko?osza Z. 1999. The increment of micronucleus frequency in cervical carcinoma during irradiation in vivo and its prognostic value for tumour radiocurability. Br J Cancer 80(10):1599–607.
Yuan Z, Li J, Hu R, Jiao Y, Han Y, Weng Q. 2015. Predictive assessment in pharmacogenetics of XRCC1 gene on clinical outcomes of advanced lung cancer patients treated with platinum-based chemotherapy. Scientific Reports 5(16482):1-21.
Caldecott KW. 2008. Single-strand break repair and genetic disease. Nat Rev Genet 9: 619–31.
Campalans A, Moritz E, Kortulewski T, Biard D, Epe B, Radicella JP. 2015. Interaction with OGG1 is required for efficient recruitment of XRCC1 to base excision repair and maintenance of genetic stability after exposure to oxidative stress. Mol Cell Biol 35(9):1648-58.
Chang P, Li Y, Li D. 2010. Micronuclei levels in peripheral blood lymphocytes as a potential biomarker for pancreatic cancer risk. Carcinogenesis 32(2): 210–5.
Fenech M, Holland N, Chang WP, Zeiger E, Bonassi S. 1999. The human micronucleus project:an international collaborative study on the use of the micronucleus technique for measuring DNA damage in humans. Mutat Res 428(1-2):271-83.
Fenech M. 2007. Cytokinesis-block micronucleus cytome assay. Nat Prot 2(5):1084-104.
Gong Y, Qi M, Chen J, Fang R, Mai C, Chen T, Tang H, Tang Y. 2015. XRCC1 Arg194Trp and Arg399Gln polymorphisms and risk of extrahepatic cholangiocarcinoma: a hospital-based case-control study in China. Int J Clin Exp Med 8(10):19339-45.
Greer JB, Whitcomb DC. 2009. In?ammation and pancreatic cancer: an evidence based review. Curr Opin Pharmacol 9(4):411–8.
Jadhav K, Gupta N, Ahmed MB. 2011. Micronuclei: An essential biomarker in oral exfoliated cells for grading of oral squamous cell carcinoma. J Cytol 28(1):7–12.
Jain A, Yadav S, Beig M, Purohit S, Sharma NK. 2017. Base excision repair manipulation in breast carcinoma: A prospective avenue to potentiate genome insulting approach. Oncomedicine 2:42-51.
Jdey W, Thierry S, Popova T, Stern MH, Dutreix M, 2017. Micronuclei frequency in tumors is a predictive biomarker for genetic instability and sensitivity to the DNA repair inhibitor AsiDNA. Cancer Res. 77(16):4207-16.
Jelonek K, Gdowicz-Klosok A, Pietrowska M, et al., 2010. Association between single-nucleotide polymorphisms of selected genes involved in the response to DNA damage and risk of colon, head and neck, and breast cancers in a Polish population. J Appl Genet 51(3): 343-52.
Khanna A. 2015. DNA damage in cancer therapeutics: a boon or a curse?. Cancer Res 5(11):2133-8.
Lusiyanti Y, Alatas Z, Syaifudin M, Purnami S. 2016. Establishment of a dose-response curve for X-ray-induced micronuclei in human lymphocytes. Genome Integr 7(49): 1–4.
Mandal RK, Kapoor R, Mittal RD. 2010. Polymorphic variants of DNA repair gene XRCC3 and XRCC7 and risk of prostate cancer: a study from North Indian population. DNA Cell Biol 29(11): 669-74.
Marín A, Martín M, Linan O, Alvarenga F, Lopez M, Fernandez L, Buchser D, Cerezo L. 2015. Bystander effects and radiotherapy. Rep Pract Oncol Radiother 20(1):12-21.
Meng Q, Wang S, Tang W, Wu S, Gao N, Zhang C, Cao X, Li X, Zhang Z, Aschner M, Jin H, Huang Y, Chen R. 2017. XRCC1 mediated the development of cervival cancer through a novel Sp1/Krox-20 swich. Oncotarget 8(49):86217–26.
Moullan N, Cox DG, Angele S, Romestaing P, Gerard JP, Hall J. 2003. Polymorphisms in the DNA repair gene XRCC1, breast cancer risk, and response to radiotherapy. Cancer Epidemiol Biomarkers Prev 12:1168-74.
Norjmaa B, Tulgaa K, Saitoh T. 2016. Base excision repair pathway and polymorphisms of XRCC1 gene. J Mol Pathol Epidemiol 1(1):1-4.
Ochiai H. 2015. Single-base-pair genome editing in human cells by using site-specific endonucleases. Int J Mol Sci 16(9):21128-37.
O'Connor MJ. 2015. Targeting the DNA Damage Response in Cancer. Mol Cell 60(4):547-60.
Rothfuss A, Schutz P, Bochum S, Volm T, Eberhardt E, Kreienberg R, et al., 2000. Induced micronucleus frequencies in peripheral lymphocytes as a screening test for carriers of a BRCA1 mutation in breast cancer families. Cancer Res 60(2):390–4.
Rybicki BA, Conti DV, Moreira A, Cicek M, Casey G, Witte JS. 2004. DNA repair gene XRCC1 and XPD polymorphisms and risk of prostate cancer. Cancer Epidemiol Biomarkers Prev 13(1):23-9.
Ryu RA, Tae K, Min HJ et al. 2011. XRCC1 Polymorphisms and risk of papillary thyroid carcinoma in a Korean Sample. J Korean Med Sci 26(8):991-5.
Surniyantoro HNE, Sadewa AH, Hastuti P, 2018a. Uncoupling protein 2 (UCP2) as genetic risk factor for obesity in Indonesia is different in gender stratification. Kobe J Med Sci 64(2):64-72.
Surniyantoro HNE, Lusiyanti Y, Rahardjo T, Tetriana D, Nurhayati S, Date H. 2018b. Polymorphism of XRCC1 Gene Exon 6 (Arg194Trp) in Relation to Micronucleus Frequencies in Hospital Radiation Workers. Atom Indonesia 44 (2): 105-11.
Surniyantoro HNE, Lusiyanti Y, Rahardjo T, Nurhayati S, Tetriana D. 2018c. Association between XRCC1 exon 10 (Arg399Gln) gene polymorphism and micronucleus as a predictor of DNA damage among radiation workers. Biodiversitas 19 (5): 1676-82.
Wallace SS, Murphy DL, Sweasy JB. 2012. Base excision repair and cancer. Cancer Lett 327(1-2): 73–89.
Wells OS, El-Khamisy SF. 2015. Autosomal recessive ataxias due to defects in DNA repair. Movement Disorders 1033–41.
Widel M, Jedrus S, Owczarek S, Konopacka M, Lubecka B, Ko?osza Z. 1999. The increment of micronucleus frequency in cervical carcinoma during irradiation in vivo and its prognostic value for tumour radiocurability. Br J Cancer 80(10):1599–607.
Yuan Z, Li J, Hu R, Jiao Y, Han Y, Weng Q. 2015. Predictive assessment in pharmacogenetics of XRCC1 gene on clinical outcomes of advanced lung cancer patients treated with platinum-based chemotherapy. Scientific Reports 5(16482):1-21.
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