Keywords
Single nucleotide polymorphism
Susceptibility gene
Laryngeal cancer
Submitted : 2024-02-28
Accepted : 2024-03-14
Published : 2024-03-29
Abstract
Objective: To study the association of X-ray repair cross-complementing group 1 (XRCC1) gene polymorphisms with increased laryngeal cancer risk. Methods: A total of 120 individuals, comprising 60 patients with laryngeal squamous cell carcinoma (LSCC), and 60 healthy volunteers participated were selected. Blood samples were taken and analyzed, and 4 XRCC1 polymorphisms (rs145135970, rs1799780, rs25489, and rs72484243) were genotyped. Results: Gender, age, body mass index (BMI), and smoking habits were shown to be the high-risk factors for LSCC. Genotype and allele distributions for the 4 polymorphisms differed significantly between both groups (P < 0.05). Furthermore, carriers with the rs72484243GTGT- allele exhibited an increased risk of LSCC relative to those who had the rs145135970 GTGTGTGTGTGTGT- allele, the rs1799780 G-A allele, or the rs25489 C-T allele, as determined by binary logistic regression analysis (OR = 2.74, 95% CI: 1.27–5.91, P = 0.01), after accounting for possible co-factors like sex, age, BMI, drinking and smoking behavior, and special diet requirements. In addition, a TA haplotype and a GTGTGTGTGTGTGTTG haplotype were linked to LSCC in Chinese populations in a haploid association study of 4 SNP loci in the XRCC1 gene (P = 0.05 OR = 1.36, 95% CI = 1.1228–1.6406). Conclusion: Genetic polymorphisms of the XRCC1 gene at the rs72484243 site were correlated with an elevated risk of LSCC among the Xinjiang population.
References
Siegel RL, Miller KD, Jemal A, 2016, Cancer statistics. CA: A Cancer Journal for Clinicians, 66(1): 7–30.
Baselga J, 2002, Why the Epidermal Growth Factor Receptor? The Rationale for Cancer Therapy. The oncologist 2002, 4: 2–8.
Goodwin WJ, Thomas GR, Parker DF, et al., 2008, Unequal Burden of Head and Neck Cancer in The United States. Head & Neck, 30(3): 358–371.
Mo BY, Li GS, Huang SN, et al., 2020, Laryngeal Squamous Cell Carcinoma: Potential Molecular Mechanism and Prognostic Signature Based on Immune-Related Genes. Medical Science Monitor: International Medical Journal of Experimental and Clinical Research, 26: e928185.
Shin JY, Truong MT, 2015, Racial Disparities in Laryngeal Cancer Treatment and Outcome: A Population-Based Analysis of 24,069 Patients. The Laryngoscope, 125(7): 1667–1674.
DeSantis C, Naishadham D, Jemal A, 2013, Cancer Statistics for African Americans. CA: A Cancer Journal for Clinicians, 63(3): 151–166.
Groome PA, O’Sullivan B, Irish JC, et al., 2003, Management and Outcome Differences in Supraglottic Cancer Between Ontario, Canada, and The Surveillance, Epidemiology, and End Results Areas of the United States. Journal of Clinical Oncology: Official Journal of The American Society of Clinical Oncology, 21(3): 496–505.
Huang Y, Gu M, Tang Y, et al., 2021, Systematic Review and Meta-Analysis of Prognostic microRNA Biomarkers for Survival Outcome in Laryngeal Squamous Cell Cancer. Cancer Cell International, 21(1): 316.
Xiao H, Su QS, Li CQ, 2020, Identification of Prognostic Immune Genes in Laryngeal Cancer. The Journal of International Medical Research, 48(11): 0300060520964662.
Zeng H, Huang Y, Chen L, et al., 2020, Exploration and Validation of The Effects of Robust Co-Expressed Immune-Related Genes on Immune Infiltration Patterns and Prognosis in Laryngeal Cancer. International immunopharmacology, 85: 106622.
Mozaffari HR, Rostamnia M, Sharifi R, et al., 2021, A PRISMA-Compliant Meta-Analysis on Association Between X-Ray Repair Cross Complementing (XRCC1, XRCC2, and XRCC3) Polymorphisms and Oral Cancer Susceptibility. Gene, 781: 145524.
Uslu C, Tüz M, Yasan H, et al., 2018, Investigation of GLUT1, HIF1?, and TBX21 Gene Polymorphisms in Laryngeal Cancer. Turkish Archives of Otorhinolaryngology, 56(2): 70–74.
Yu J, Li X, Zhou B, et al., 2019, Polymorphisms of the TERT-CLPTM1L Gene Are Associated with Pharynx-Larynx Cancer. DNA and Cell Biology, 38(9): 915–921.
Su J, Cui J, Xue HT, et al., 2017, Study on the Correlation Between CD14 Gene Polymorphism and Susceptibility to Laryngeal Cancer. European Review for Medical and Pharmacological Sciences, 21(19): 4292–4297.
Ekizoglu S, Seven D, Ulutin T, et al., 2018, Investigation of the SLC22A23 Gene in Laryngeal Squamous Cell Carcinoma. BMC Cancer, 18(1): 477.
Snit M, Misiolek M, Scierski W, et al., 2021, DIAPH2, PTPRD and HIC1 Gene Polymorphisms and Laryngeal Cancer Risk. International Journal of Environmental Research and Public Health, 18(14): 7486.
Lin J, Ye Q, Wang Y, et al., 2018, Association Between XRCC1 Single-Nucleotide Polymorphisms and Susceptibility to Nasopharyngeal Carcinoma: An Update Meta-Analysis. Medicine, 97(32): e11852.
Khanna KK, Jackson SP, 2001, DNA Double-Strand Breaks: Signaling, Repair, and The Cancer Connection. Nature Genetics, 27(3): 247–254.
Balkan E, Bilici M, Gundogdu B, et al., 2020, ERCC2 Lys751Gln rs13181 and XRCC2 Arg188His rs3218536 Gene Polymorphisms Contribute to Susceptibility of Colon, Gastric, HCC, Lung, and Prostate Cancer. Journal of BUON: Official Journal of the Balkan Union of Oncology, 25(1): 574–581.
Wilson DM, Bohr VA, 2007, The Mechanics of Base Excision Repair, and Its Relationship to Aging and Disease. DNA repair 2007, 6(4): 544–559.
Sorour A, Ayad MW, Kassem H, 2013, The Genotype Distribution of the XRCC1, XRCC3, and XPD DNA Repair Genes and Their Role for The Development of Acute Myeloblastic Leukemia. Genetic testing and Molecular Biomarkers, 17(3): 195–201.
Brewster AM, Jorgensen TJ, Ruczinski I, et al., 2006, Polymorphisms of the DNA repair genes XPD (Lys751Gln) and XRCC1 (Arg399Gln and Arg194Trp): Relationship to Breast Cancer Risk and Familial Predisposition to Breast Cancer. Breast Cancer Research and Treatment, 95(1): 73–80.
Gulbay G, Yesilada E, Celik O, et al., 2017, The Investigation of Polymorphisms in DNA Repair Genes (XRCC1, APE1, and XPD) in Women with Polycystic Ovary Syndrome. Asian Pacific Journal of Cancer Prevention, 18(5): 1219–1223.
Popanda O, Schattenberg T, Phong CT, et al., 2004, Specific Combinations of DNA Repair Gene Variants and Increased Risk for Non-Small Cell Lung Cancer. Carcinogenesis, 25(12): 2433–2441.
Qian YY, Liu XY, Pei D, et al., 2014, The XPD Lys751Gln polymorphism has Predictive Value in Colorectal Cancer Patients Receiving Oxaliplatin-Based Chemotherapy: A Systemic Review and Meta-Analysis. Asian Pacific Journal of Cancer Prevention, 15(22): 9699–9706.
Alimu N, Qukuerhan A, Wang S, et al., 2018, The Association Between XRCC1 Polymorphism and Laryngeal Cancer Susceptibility in Different Ethnic Groups in Xinjiang, China. International Journal of Clinical and Experimental Pathology, 11(9): 4595–4604.
Purcell S, Neale B, Todd-Brown K, et al., 2007, PLINK: A Tool Set for Whole-Genome Association and Population- Based Linkage Analyses. American Journal of Human Genetics, 81(3): 559–575.
Belfer I, Buzas B, Evans C, et al., 2005, Haplotype Structure of The Beta-Adrenergic Receptor Genes in US Caucasians and African Americans. European Journal of Human Genetics, 13(3): 341–351.
Keriel A, Stary A, Sarasin A, et al., 2002, XPD Mutations Prevent TFIIH-Dependent Transactivation by Nuclear Receptors and Phosphorylation of RAR-?. Cell, 109(1):125-135.
Lainé JP, Mocquet V, Bonfanti M, et al., 2007, Common XPD (ERCC2) Polymorphisms Have No Measurable Effect on Nucleotide Excision Repair and Basal Transcription. DNA repair, 6(9): 1264–1270.
Liu N, Lamerdin JE, Tebbs RS, et al., 1998, XRCC2 and XRCC3, New Human Rad51-Family Members, Promote Chromosome Stability and Protect Against DNA Cross-Links and Other Damages. Molecular Cell, 1(6): 783–793.
Thompson LH, West MG, 2000, XRCC1 Keeps DNA from Getting Stranded. Mutation Research 2000, 459(1): 1–18.
Sliwinski T, Walczak A, Przybylowska K, et al., 2010, Polymorphisms of the XRCC3 C722T and the RAD51 G135C genes and the Risk of Head and Neck Cancer in a Polish Population. Experimental and Molecular Pathology, 89(3): 358–366.
Werbrouck J, De Ruyck K, Duprez F, et al., 2008, Single-Nucleotide Polymorphisms in DNA Double-Strand Break Repair Genes: Association with Head and Neck Cancer and Interaction with Tobacco Use and Alcohol Consumption. Mutation Research, 656(1–2): 74–81.
Wang ZG, Cui W, Yang LF, et al., 2014, Association of Dietary Intake of Folate and MTHFR Genotype with Breast Cancer Risk. Genetics and Molecular Research, 13(3): 5446–5451.
Sun Y, Tan L, Li H, et al., 2015, Association of NER Pathway Gene Polymorphisms with Susceptibility to Laryngeal Cancer in A Chinese Population. International Journal of Clinical and Experimental Pathology, 8(9): 11615–11621.
Li Z, Ding S, Zhong Q, et al., 2015, Significance of MMP11 and P14(ARF) Expressions in Clinical Outcomes of Patients with Laryngeal Cancer. International Journal of Clinical and Experimental Medicine, 8(9): 15581–15590.
Jiang R, Hu W, Sun G, et al., 2015, Expression of BTG1 Protein in Laryngeal Squamous Cell Carcinoma and Its Clinical Significance. Journal of Clinical Otorhinolaryngology, Head, and Neck Surgery, 29(16): 1447–1450.
Mansour MA, Hyodo T, Akter KA, et al., 2016, SATB1 and SATB2 Play Opposing Roles in c-Myc Expression and Progression of Colorectal Cancer. Oncotarget, 7(4): 4993–5006.
Li F, Wang J, Chen M, 2016, Single Nucleotide Polymorphisms in DNA Repair Genes and The Risk of Laryngeal Cancer: A Meta-Analysis. Biomedicine and Pharmacotherapy, 78: 92–100.
Bednarek K, Kiwerska K, Szaumkessel M, et al., 2016, Recurrent CDK1 Overexpression in Laryngeal Squamous Cell Carcinoma. Tumor biology: The Journal of The International Society for Oncodevelopmental Biology and Medicine, 37(8): 11115–11126.
Wang X, Ma KW, Zhao YG, et al., 2015, XRCC1 rs25487 polymorphism is Associated with Lung Cancer Risk in Epidemiologically Susceptible Chinese People. Genetics And Molecular Research, 14(4): 15530–15538.
Lu B, Li J, Gao Q, et al., 2014, Laryngeal Cancer Risk and Common Single Nucleotide Polymorphisms in Nucleotide Excision Repair Pathway Genes ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, and XPA. Gene, 542(1): 64–68.
Winkler GS, Araújo SJ, Fiedler U, et al., 2000, TFIIH with Inactive XPD Helicase Functions in Transcription Initiation but is Defective in DNA Repair. The Journal of Biological Chemistry, 275(6): 4258–4266.
Farnebo L, Stjernström A, Fredrikson M, et al., 2015, DNA Repair Genes XPC, XPD, XRCC1, and XRCC3 are Associated with Risk and Survival of Squamous Cell Carcinoma of The Head and Neck. DNA Repair, 31: 64–72.
Nagel ZD, Chaim IA, Samson LD, 2014, Inter-Individual Variation in DNA Repair Capacity: A Need for Multi- Pathway Functional Assays to Promote Translational DNA Repair Research. DNA Repair, 19: 199–213.
Ellis L, Rachet B, Birchall M, et al., 2012, Trends and Inequalities in Laryngeal Cancer Survival in Men and Women: England and Wales 1991–2006. Oral oncology, 48(3): 284–289.
Hopkins J, Cescon DW, Tse D, et al, 2008, Genetic Polymorphisms and Head and Neck Cancer Outcomes: A Review. Cancer Epidemiology, Biomarkers, and Prevention: A Publication of The American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 17(3): 490–499.
London RE, 2015, The Structural Basis of XRCC1-Mediated DNA Repair. DNA repair, 30: 90–103.
Lv MQ, Wang J, Yu XQ, et al., 2017, Association Between X-Ray Repair Cross-Complementing Group 1 (XRCC1) Arg399Gln Polymorphism and Endometriosis: A Systematic Review and Meta-Analysis. European Journal of Obstetrics, Gynecology, and Reproductive Biology, 218: 12–20.
Horton JK, Gassman NR, Dunigan BD, et al., 2015, DNA Polymerase ?-Dependent Cell Survival Independent of XRCC1 expression. DNA repair, 26: 23–29.
Ghasemi H, Khodadadi I, Fattahi A, et al., 2017, Polymorphisms of DNA Repair Genes XRCC1 and LIG4, and Idiopathic Male Infertility. Systems Biology in Reproductive Medicine, 63(6): 382–390.
Chen X, Legrand AJ, Cunniffe S, et al., 2018, Interplay Between Base Excision Repair Protein XRCC1 and ALDH2 Predicts Overall Survival in Lung and Liver Cancer Patients. Cellular Oncology (Dordrecht), 41(5): 527–539.
Wang LJ, Wang HT, Wang XX, 2016, Association of XRCC1 Gene Polymorphisms and Pancreatic Cancer Risk in A Chinese Population. Genetics and Molecular Research, 15(2).
Ahmadi A, Behmanesh M, Boroumand MA, et al., 2015, Up-regulation of MSH2, XRCC1, and ATM Genes in Patients with Type 2 Diabetes and Coronary Artery Disease. Diabetes Research and Clinical Practice, 109(3): 500– 506.
Zeng X, Zhang Y, Yue T, et al., 2017, Association Between XRCC1 Polymorphisms and The Risk of Cervical Cancer: A Meta-Analysis Based on 4895 Subjects. Oncotarget, 8(2): 2249–2260.
Sobiahe A, Hijazi E, Al-Ameer HJ, et al., 2020, Arg399Gln XRCC1 Polymorphism and Risk of Squamous Cell Carcinoma of the Head and Neck in Jordanian Patients. Asian Pacific Journal of Cancer Prevention, 21(3): 663–665.
Shen MR, Jones IM, Mohrenweiser H, et al., 1998, Nonconservative Amino Acid Substitution Variants Exist at Polymorphic Frequency in DNA Repair Genes in Healthy Humans. Cancer Research, 58(4): 604–608.
Wu W, Liu L, Yin Z, et al., 2014, Association of X-ray Repair Cross-Complementing Group 1 Arg194Trp, Arg399Gln, and Arg280His Polymorphisms with Head and Neck Cancer Susceptibility: A Meta-Analysis. PloS one, 9(1): e86798.
Wang Y, Chu X, Meng X, et al., 2013, Association of X-Ray Repair Cross Complementing Group 1 Arg399Gln Polymorphisms with The Risk of Squamous Cell Carcinoma of The Head and Neck: Evidence from An Updated Meta-Analysis. PloS one, 8(10): e77898.
Stur E, Agostini LP, Garcia FM, et al., 2015, Prognostic Significance of Head and Neck Squamous Cell Carcinoma Repair Gene Polymorphism. Genetics and Molecular Research, 14(4): 12446–12454.
Azad AK, Bairati I, Samson E, et al., 2012, Validation of Genetic Sequence Variants as Prognostic Factors in Early-Stage Head and Neck Squamous Cell Cancer Survival. Clinical Cancer Research: An Official Journal of the American Association for Cancer Research, 18(1): 196–206.
Parshuram RV, Kumar R, Brahma Bhatt ML, et al., 2019, To Investigate the Affiliation of XRCC-1 Gene Arg194Trp Polymorphism in Alcohol and Tobacco Substance Users and Loco-Regionally Progressed Laryngeal Squamous Cell Carcinoma. Journal of Oral Biology and Craniofacial Research, 9(1): 77–80.
Xia S, Wu S, Wang M, 2021, The Association Between the XRCC1 Arg399Gln Polymorphism and the Risk of Head and Neck Cancer: An Updated Meta-Analysis Including 14586 Subjects. Technology in Cancer Research and Treatment, 20: 15330338211033060.