Login Register Cart 0
Generic placeholder image

Current Molecular Medicine

Editor-in-Chief

ISSN (Print): 1566-5240
ISSN (Online): 1875-5666

Back
Journal Home About Journal Editorial Board Journal Insight Current Issue Volumes/Issues
Subscribe Translate in Chinese
Research Article

NF-κB1 Intronic Region Polymorphisms as Risk Factor for Head and Neck Cancer in HPV-Infected Population from Pakistan

Author(s): Sumaira Sarwar*, Muammad Usman Tareen, Maimoona Sabir, Aneesa Sultan and Salman A. Malik

Volume 22, Issue 1, 2022

Published on: 02 March, 2021

Page: [74 - 82] Pages: 9

DOI: 10.2174/1566524021666210302144344

Abstract

Background: Head and neck cancer (HNC) develops due to a number of risk factors, including infection of Human Papillomavirus (HPV). The genetic predisposition also plays an important role in deregulating different signaling pathways including the NF-KB pathway. Certain polymorphisms are reported to affect the NF-kB pathway genes.

Objectives: The present research was conducted to study the association of HPV with NF-KB1 (p50) gene polymorphisms in HNC patients of the Pakistani population.

Methods: Genomic DNA from HNC tumors samples was extracted using the Exgene SV DNA extraction Kit. Allele-specific PCR and direct sequencing were done for analysis of NF-κB1 SNPs 94ins/del (rs28362491), rs1598858 and rs4648068.

Results: The genotypes AGrs1598858, AGrs4648068 and GGrs4648068 were associated with significantly increased risk of head and neck cancer in studied population. Furthermore the HNC cases with genotypes AGrs1598858 and GGrs4648068 displayed growing risk of HPV related cancers. Promotor region SNP 94ins/del (rs28362491) was not detected in studied population. Tobacco use, lymph nodes involvement and poorly differentiated tumors were positively associated with HPV induced cancers.

Conclusion: It is the first comprehensive study from Pakistan, to evaluate the polymorphic variants of NF-κB1. Genotypes AGrs4648068, GGrs4648068, and AGrs1598858 of NF-κB1 gene are associated with increased risk of head and neck cancers in the studied HPV infected Pakistani population. It can be concluded that HPV infection, involvement of lymph nodes and tobacco use can act synergetic and add up in modulating HPV induced HNC with intronic SNPs of NF-κB1 gene in Pakistani population.

Keywords: NF-κB1, single nucleotide polymorphism, Human Papillomavirus, head and neck cancer, Pakistani population, polymorphic variants.

« Previous
[1]
Ferlay J, Shin H-R, Bray F, Forman D, Mathers C, Parkin DM. Estimates of worldwide burden of cancer in 2008: GLOBOCAN 2008. Int J Cancer 2010; 127(12): 2893-917.
[http://dx.doi.org/10.1002/ijc.25516] [PMID: 21351269]
[2]
Chaturvedi AK, Engels EA, Pfeiffer RM, et al. Human papillomavirus and rising oropharyngeal cancer incidence in the United States. J Clin Oncol 2011; 29(32): 4294-301.
[http://dx.doi.org/10.1200/JCO.2011.36.4596] [PMID: 21969503]
[3]
Bhurgri Y, Bhurgri A, Usman A, et al. Epidemiological review of head and neck cancers in Karachi. Asian Pac J Cancer Prev 2006; 7(2): 195-200.
[PMID: 16839210]
[4]
Sabir M, Baig RM, Mahjabeen I, Kayani MA. Significance of cyclin D1 polymorphisms in patients with head and neck cancer. Int J Biol Markers 2013; 28(1): 49-55.
[http://dx.doi.org/10.5301/JBM.2012.9768] [PMID: 23125009]
[5]
Bray F, Ferlay J, Soerjomataram I, Siegel RL, Torre LA, Jemal A. Global cancer statistics 2018: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries. CA Cancer J Clin 2018; 68(6): 394-424.
[http://dx.doi.org/10.3322/caac.21492] [PMID: 30207593]
[6]
Hanif M, Zaidi P, Kamal S, Hameed A. Institution-based cancer incidence in a local population in Pakistan: Nine year data analysis. Asian Pac J Cancer Prev 2009; 10(2): 227-30.
[PMID: 19537889]
[7]
Gillison ML, Koch WM, Capone RB, et al. Evidence for a causal association between human papillomavirus and a subset of head and neck cancers. J Natl Cancer Inst 2000; 92(9): 709-20.
[http://dx.doi.org/10.1093/jnci/92.9.709] [PMID: 10793107]
[8]
Ragin CC, Taioli E. Survival of squamous cell carcinoma of the head and neck in relation to human papillomavirus infection: Review and meta-analysis. Int J Cancer 2007; 121(8): 1813-20.
[http://dx.doi.org/10.1002/ijc.22851] [PMID: 17546592]
[9]
Dai M, Clifford GM, le Calvez F, et al. Human papillomavirus type 16 and TP53 mutation in oral cancer: Matched analysis of the IARC multicenter study. Cancer Res 2004; 64(2): 468-71.
[http://dx.doi.org/10.1158/0008-5472.CAN-03-3284] [PMID: 14744758]
[10]
Braakhuis BJ, Snijders PJ, Keune WJ, et al. Genetic patterns in head and neck cancers that contain or lack transcriptionally active human papillomavirus. J Natl Cancer Inst 2004; 96(13): 998-1006.
[http://dx.doi.org/10.1093/jnci/djh183] [PMID: 15240783]
[11]
Haddad RI, Shin DM. Recent advances in head and neck cancer. N Engl J Med 2008; 359(11): 1143-54.
[http://dx.doi.org/10.1056/NEJMra0707975] [PMID: 18784104]
[12]
Abu Qatouseh L, Sabri I, Alkhatib I, Atwa E, Arafat T. Detection of high-risk human papillomavirus genotypes 16 and 18 in head and neck squamous cell carcinomas in jordan. Asian Pac J Cancer Prev 2017; 18(5): 1337-41.
[PMID: 28612284]
[13]
Kreimer AR, Clifford GM, Boyle P, Franceschi S. Human papillomavirus types in head and neck squamous cell carcinomas worldwide: A systematic review. Cancer Epidemiol Biomarkers Prev 2005; 14(2): 467-75.
[http://dx.doi.org/10.1158/1055-9965.EPI-04-0551] [PMID: 15734974]
[14]
Cubie HA, Seagar AL, McGoogan E, et al. Rapid real time PCR to distinguish between high risk human papillomavirus types 16 and 18. Mol Pathol 2001; 54(1): 24-9.
[http://dx.doi.org/10.1136/mp.54.1.24] [PMID: 11212885]
[15]
Gillison ML, D’Souza G, Westra W, et al. Distinct risk factor profiles for human papillomavirus type 16-positive and human papillomavirus type 16-negative head and neck cancers. J Natl Cancer Inst 2008; 100(6): 407-20.
[http://dx.doi.org/10.1093/jnci/djn025] [PMID: 18334711]
[16]
Schiffman M, Castle PE, Jeronimo J, Rodriguez AC, Wacholder S. Human papillomavirus and cervical cancer. Lancet 2007; 370(9590): 890-907.
[http://dx.doi.org/10.1016/S0140-6736(07)61416-0] [PMID: 17826171]
[17]
Smith EM, Rubenstein LM, Haugen TH, Hamsikova E, Turek LP. Tobacco and alcohol use increases the risk of both HPV-associated and HPV-independent head and neck cancers. Cancer Causes Control 2010; 21(9): 1369-78.
[http://dx.doi.org/10.1007/s10552-010-9564-z] [PMID: 20401530]
[18]
Yu L-L, Yu H-G, Yu J-P, Luo H-S, Xu X-M, Li J-H. “Nuclear factor-kB p65 (RelA) transcription factor is constitutively activated in human colorectal carcinoma tissue.” World journal of gastroenterology. WJG 2004; 10(22): 3255.
[http://dx.doi.org/10.3748/wjg.v10.i22.3255] [PMID: 15484295]
[19]
Grivennikov SI, Greten FR, Karin M. Immunity, inflammation, and cancer. Cell 2010; 140(6): 883-99.
[http://dx.doi.org/10.1016/j.cell.2010.01.025] [PMID: 20303878]
[20]
Oltulu YM, Coskunpinar E, Ozkan G, et al. Investigation of NF-κB1 and NF-κBIA gene polymorphism in non-small cell lung cancer. BioMed Res Int 2014; 2014530381
[http://dx.doi.org/10.1155/2014/530381] [PMID: 24707489]
[21]
World Health Organization. ICD-10: International statistical classification of diseases and related health problems: tenth revision. 2004..
[22]
Kumar R, Rai AK, Das D, et al. Alcohol and tobacco increases risk of high risk HPV infection in head and neck cancer patients: Study from North-East Region of India. PLoS One 2015; 10(10)e0140700
[http://dx.doi.org/10.1371/journal.pone.0140700] [PMID: 26473489]
[23]
Lu R, Gao X, Chen Y, et al. Association of an NFKB1 intron SNP (rs4648068) with gastric cancer patients in the Han Chinese population. BMC Gastroenterol 2012; 12(1): 87.
[http://dx.doi.org/10.1186/1471-230X-12-87] [PMID: 22776619]
[24]
Carlson CS, Eberle MA, Rieder MJ, Yi Q, Kruglyak L, Nickerson DA. Selecting a maximally informative set of single-nucleotide polymorphisms for association analyses using linkage disequilibrium. Am J Hum Genet 2004; 74(1): 106-20.
[http://dx.doi.org/10.1086/381000] [PMID: 14681826]
[25]
Sjakste T, Paramonova N, Grislis Z, Trapina I, Kairisa D. Analysis of the single-nucleotide polymorphism in the 5'UTR and part of intron I of the sheep MSTN gene. DNA Cell Biol 2011; 30(7): 433-44.
[http://dx.doi.org/10.1089/dna.2010.1153] [PMID: 21323579]
[26]
Zhu L-B, Xu Q, Hong C-Y, et al. XPC gene intron 11 C/A polymorphism is a predictive biomarker for the sensitivity to NP chemotherapy in patients with non-small cell lung cancer. Anticancer Drugs 2010; 21(7): 669-73.
[http://dx.doi.org/10.1097/CAD.0b013e32833ad5aa] [PMID: 20571354]
[27]
Chen P, Xie L-J, Huang GY, Zhao XQ, Chang C. Mutations of connexin43 in fetuses with congenital heart malformations. Chin Med J (Engl) 2005; 118(12): 971-6.
[PMID: 15978203]
[28]
Zhang X, Fu L, Zhang Q, et al. Association of TRB3 Q84R polymorphism with polycystic ovary syndrome in Chinese women. Reprod Biol Endocrinol 2011; 9(1): 46.
[http://dx.doi.org/10.1186/1477-7827-9-46] [PMID: 21492415]
[29]
Elens L, Bouamar R, Hesselink DA, et al. A new functional CYP3A4 intron 6 polymorphism significantly affects tacrolimus pharmacokinetics in kidney transplant recipients. Clin Chem 2011; 57(11): 1574-83.
[http://dx.doi.org/10.1373/clinchem.2011.165613] [PMID: 21903774]
[30]
Chuo L-J, Wu S-T, Chang HI, Kuo Y-M. Extremely rare incidence of the UBQLN1 polymorphism (UBQ-8i) in Taiwan Chinese with Alzheimer’s disease. Neurosci Lett 2010; 475(2): 108-9.
[http://dx.doi.org/10.1016/j.neulet.2010.03.061] [PMID: 20350585]
[31]
Athanasiu L, Mattingsdal M, Melle I, et al. Intron 12 in NTRK3 is associated with bipolar disorder. Psychiatry Res 2011; 185(3): 358-62.
[http://dx.doi.org/10.1016/j.psychres.2010.05.011] [PMID: 20554328]
[32]
Weickert CS, Miranda-Angulo AL, Wong J, et al. Variants in the estrogen receptor alpha gene and its mRNA contribute to risk for schizophrenia. Hum Mol Genet 2008; 17(15): 2293-309.
[http://dx.doi.org/10.1093/hmg/ddn130] [PMID: 18424448]
[33]
Plantinga TS, Petrulea MS, Oosting M, et al. Association of NF-κB polymorphisms with clinical outcome of non-medullary thyroid carcinoma. Endocr Relat Cancer 2017; 24(7): 307-18.
[http://dx.doi.org/10.1530/ERC-17-0033] [PMID: 28428267]
[34]
Shadrina A, Voronina E, Smetanina M, et al. Polymorphisms in inflammation-related genes and the risk of primary varicose veins in ethnic Russians. Immunol Res 2018; 66(1): 141-50.
[http://dx.doi.org/10.1007/s12026-017-8981-4] [PMID: 29247331]
[35]
Chen LP, Cai PS, Liang HB. Association of the genetic polymorphisms of NFKB1 with susceptibility to ovarian cancer. Genet Mol Res 2015; 14(3): 8273-82.
[http://dx.doi.org/10.4238/2015.July.27.15] [PMID: 26345753]
[36]
Senba M, Buziba N, Mori N, et al. Human papillomavirus infection induces NF-κB activation in cervical cancer: A comparison with penile cancer. Oncol Lett 2011; 2(1): 65-8.
[http://dx.doi.org/10.3892/ol.2010.207] [PMID: 22870130]
[37]
Auguste A, Gaëte S, Herrmann-Storck C, et al. Prevalence of oral HPV infection among healthy individuals and head and neck cancer cases in the French West Indies. Cancer Causes Control 2017; 28(11): 1333-40.
[http://dx.doi.org/10.1007/s10552-017-0966-z] [PMID: 28948421]
[38]
Chau NG, Rabinowits G, Haddad RI. Human papillomavirus-associated oropharynx cancer (HPV-OPC): treatment options. Curr Treat Options Oncol 2014; 15(4): 595-610.
[http://dx.doi.org/10.1007/s11864-014-0309-1] [PMID: 25240410]
[39]
Du J, Nordfors C, Ährlund-Richter A, et al. Prevalence of oral human papillomavirus infection among youth, Sweden. Emerg Infect Dis 2012; 18(9): 1468-71.
[http://dx.doi.org/10.3201/eid1809.111731] [PMID: 22932445]
[40]
Dayyani F, Etzel CJ, Liu M, Ho C-H, Lippman SM, Tsao AS. Meta-analysis of the impact of human papillomavirus (HPV) on cancer risk and overall survival in head and neck squamous cell carcinomas (HNSCC). Head Neck Oncol 2010; 2(1): 15.
[http://dx.doi.org/10.1186/1758-3284-2-15] [PMID: 20587061]
[41]
Smith EM, Ritchie JM, Summersgill KF, et al. Age, sexual behavior and human papillomavirus infection in oral cavity and oropharyngeal cancers. Int J Cancer 2004; 108(5): 766-72.
[http://dx.doi.org/10.1002/ijc.11633] [PMID: 14696105]
[42]
Pereira N, Kucharczyk KM, Estes JL, et al. Human papillomavirus infection, infertility, and assisted reproductive outcomes. J Pathogens 2015; 2015578423
[http://dx.doi.org/10.1155/2015/578423] [PMID: 26609434]
[43]
Jamaly S, Khanehkenari MR, Rao R, et al. Relationship between p53 overexpression, human papillomavirus infection, and lifestyle in Indian patients with head and neck cancers. Tumour Biol 2012; 33(2): 543-50.
[http://dx.doi.org/10.1007/s13277-011-0295-x] [PMID: 22231431]
[44]
Chen Y, Lu R, Zheng H, et al. The NFKB1 polymorphism (rs4648068) is associated with the cell proliferation and motility in gastric cancer. BMC Gastroenterol 2015; 15(1): 21.
[http://dx.doi.org/10.1186/s12876-015-0243-0] [PMID: 25888547]
[45]
Hua T, Qinsheng W, Xuxia W, et al. Nuclear factor-kappa B1 is associated with gastric cancer in a Chinese population. Medicine (Baltimore) 2014; 93(28)e279
[http://dx.doi.org/10.1097/MD.0000000000000279] [PMID: 25526460]
[46]
Chen F, Liu F, Yan L, et al. A functional haplotype of NFKB1 influence susceptibility to oral cancer: a population-based and in vitro study. Cancer Med 2018; 7(5): 2211-8.
[http://dx.doi.org/10.1002/cam4.1453] [PMID: 29635862]
[47]
Li L, Zhang Z-T. Genetic Association between NFKBIA and NFKB1 Gene Polymorphisms and the Susceptibility to Head and Neck Cancer: A Meta-Analysis. Dis Markers 2019; 20196523837
[http://dx.doi.org/10.1155/2019/6523837] [PMID: 31612070]
[48]
Pallavi S, Anoop K, Showket H, Alo N, Mausumi B. NFKB1/NFKBIa polymorphisms are associated with the progression of cervical carcinoma in HPV-infected postmenopausal women from rural area. Tumour Biol 2015; 36(8): 6265-76.
[http://dx.doi.org/10.1007/s13277-015-3312-7] [PMID: 25773394]

Rights & Permissions Print Cite
Article Metrics
14
3
© 2024 Bentham Science Publishers | Privacy Policy