Identification of genetic polymorphisms in DNA repair xenoderma pigmentosum group D gene and its association with head and neck cancer susceptibility in rural Indian population: a hospital based case-control study from south-western Maharashtra, India

Authors

  • Kailas D. Datkhile Molecular and Genetic Laboratory, Krishna Institute of Medical Sciences, Karad, Satara, 415539, Maharashtra
  • Rohit D. Vhaval Molecular and Genetic Laboratory, Krishna Institute of Medical Sciences, Karad, Satara, 415539, Maharashtra
  • Madhavi N. Patil Molecular and Genetic Laboratory, Krishna Institute of Medical Sciences, Karad, Satara, 415539, Maharashtra
  • Tejasvi S. Khamkar Molecular and Genetic Laboratory, Krishna Institute of Medical Sciences, Karad, Satara, 415539, Maharashtra
  • Pratik P. Durgawale Molecular and Genetic Laboratory, Krishna Institute of Medical Sciences, Karad, Satara, 415539, Maharashtra
  • Pandurang G. Chougule Department of Surgery, Krishna Institute of Medical Sciences, Karad, Satara, 415539, Maharashtra
  • Neville Tata Department of Surgery, Krishna Institute of Medical Sciences, Karad, Satara, 415539, Maharashtra
  • Ritwij Patankar Department of Surgery, Krishna Institute of Medical Sciences, Karad, Satara, 415539, Maharashtra
  • Anand Gudur Department of Oncology, Krishna Institute of Medical Sciences, Karad, Satara, 415539, Maharashtra
  • Satish V. Kakade Department of Preventive and Social Medicine, Krishna Institute of Medical Sciences, Karad, Satara, 415539, Maharashtra

DOI:

https://doi.org/10.18203/2320-6012.ijrms20161749

Keywords:

Genetic polymorphisms, XPD, Cancer risk, Genotyping, PCR-RFLP

Abstract

Background: Smoking and alcohol related head and neck cancer is a major concern of health risk in developing countries, such as India. In this study, we aimed to determine the frequency of polymorphisms in DNA repair gene, xeroderma pigmentosum complementation group D (XPD) at codon (cd) 156, cd199, cd320, cd751 in patients of oral cancer from South-Western Maharashtra, India and to evaluate their association with oral cancer development.

Methods: We used polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) to analyze XPD gene polymorphisms in 320 patients with oral cancer and in 400 age and sex matched disease-free controls.

Results: There was no significant difference in the genotype distribution between oral cancer patients and controls for each polymorphism (p>0.05) except XPD199. The result from our study showed that allele frequencies of selected genes were not statistically different between the groups for XPD Arg156, XPD Asn320, XPD Gln751. XPDMet199 (OR=29.44; 95% CI= (18.47-46.92); p≤0.0001) genotypes significantly increased the risk of head and neck cancer.

Conclusions: This study indicates that polymorphisms in cd199 of XPD gene could play a role in modifying genetic susceptibility of individual to head and neck cancer inMaharashtra patients. Thus, the case-control study suggest that selected DNA repair genes represent genetic determinants in oral carcinogenesis along with other risk factors in the rural Indian population.

 

References

Parkin DM, Bray F, Ferlay J and Pisani P. Global cancer statistics, 2002. CA Cancer J Clin. 2005;55:74-108.

Marcu LG, Yeoh E. A review of risk factors and genetic alterations in head and neck carcinogenesis and implications for current and future approaches to treatment. J Cancer Res Clin Oncol. 2009;135:1303-14.

Ferlay J, Bray F, Pisani P and Parkin DM. Globocan 2000-cancer incidence, mortality and prevalence worldwide, version 1.0. IARC Cancer Base No. 5. Lyon: International Agency for Research on Cancer. 2001. Available at; http://globocan.iarc.fr/ Default.aspx.

Miller CS, Johnstone BM. Human papillomavirus as a risk factor for oral squamous cell carcinoma: a meta-analysis, 1982-1997. Oral Surg. Oral Med, Oral Pathol, Radiol Endol. 2001;91:622-35.

Ogden GR. Alcohol and oral cancer. Alcohol. 2005; 35:169-173.

Warnakulasuriya S, Sutherland G, Scully C. Tobacco, oral cancer, and treatment of dependence. Oral Oncol. 2005;41:244-60.

Frosina G. Overexpression of enzymes that repair endogenous damage to DNA. Eur J Biochem. 2000;267:2135-49.

Wood RD, Mitchell M, Sgouros J, Lindahl T. Human DNA repair genes. Science. 2001;291:1284-9.

Scully C, Bagan J. Oral squamous cell carcinoma: overview of current understanding of aetiopathogenesis and clinical implications. Oral Dis. 2009;15:388-99.

Evans MD, Dizdaroglu M, Cooke MS. Oxidative DNA damage and disease: induction, repair and significance. Mutat Res. 2004;567:1-61.

Lehmann AR. The xeroderma pigmentosum group D (XPD) gene: one gene, two functions, three diseases. Genes Dev. 2001;15:15-23.

Manuguerra M, Saletta F, Karagas MR, Berwick M, Veglia F, Vineis P, et al. XRCC3 and XPD/ERCC2 single nucleotide polymorphisms and the risk of cancer: a HuGE review. Am J Epidemiol. 2006;164:297-302.

Berwick M, Vineis P. Markers of DNA repair and susceptibility to cancer in humans: an epidemiologic review. J Natl Cancer Inst. 2000;92:874-97.

Cagana M, Kilgallen J, Conroy JM, Wiencke JK, Kelsey KT, Miike R. et al. Associations between ERCC2 polymorphisms and gliomas. Cancer Epidemiol. Biomarkers Prev. 2001;10:355-60.

Nexo BA, Vogel U, Olsen, A, Ketelsen T, Bukowy Z, Thomsen BL, et al. A specific haplotype of single nucleotide polymorphisms on chromosome 19q13.2–3 encompassing the gene RAI is indicative of post-menopausal breast cancer before age 55. Carcinogenesis. 2003;24:899-904.

Shao J, Gu M, Xu Z, Hu Q, Qian L. Polymorphisms of the DNA gene XPD and risk of bladder cancer in a Southeastern Chinese population. Cancer Genet. Cytogenet. 2007;177:30-6.

Tomescu D, Kavanagh G, Ha T, Campbell H, Melton D. Nucleotide excision repair gene XPD polymorphisms and genetic predisposition to melanoma. Carcinogenesis. 2001;22:403-8.

Vogel U, Hedayati M, Dybdahl M, Grossman L, Nexo BA. Polymorphisms of the DNA repair gene XPD: correlation with risk of basal cell carcinoma revisited. Carcinogenesis. 2001;22:899-904.

Vogel U, Olsen A, Wallin H, Overvad K, Tjonneland A, Nexo BA. Effect of polymorphisms in XPD, RAI, ASE-1 and ERCC1 on the risk of basal cell carcinoma among Caucasians after age 50. Cancer Detect. Prev. 2005;29:209-14.

Sturgis EM, Zheng R, Li L, Castillo EJ, Eicher SA, Chen M, et al. XPD/ERCC2 polymorphisms and risk of head and neck cancer: a case-control analysis.Carcinogenesis. 2000;21:2219-23.

Sturgis EM, Castillo EJ, Li L, Eicher SA, Strom SS, Spitz MR, et al. XPD/ERCC2 EXON 8 Polymorphisms: rarity and lack of significance in risk of squamous cell carcinoma of the head and neck. Oral Oncol. 2002;38:475-7.

Ramachandran S, Ramadas K, Hariharan R, Kumar RR, Pillai RM. Single nucleotide polymorphisms of DNA repair genes XRCC1 and XPD and its molecular mapping in Indian oral cancer. Oral Oncol. 2006;42:350-62.

An J, Liu Z, Hu Z, Li G, Wang LE, Sturgis EM, et al. Potentially functional single nucleotide polymorphisms in the core nucleotide excision repair genes and risk of squamous cell carcinoma of the head and neck. Cancer Epidemiol Biomarkers Prev. 2007;16:1633-8.

Bau DT, Tsai MH, Huang CY, Lee CC, Tseng HC, Lo YL, et al. Relationship between polymorphisms of nucleotide excision repair genes and oral cancer risk in Taiwan: evidence for modification of smoking habit. Chin J Physiol. 2007;50:294-300.

Majumder M, Sikdar N, Ghosh S, Roy B. Polymorphisms at XPD and XRCC1 DNA repair loci and increased risk of oral leukoplakia and cancer among NAT2 slow acetylators. Int J Cancer. 2007;120:2148-56.

Datkhile KD, Vhaval RD, Patil MN, Khamkar TS, Durgavale PP, Gudur A, et al. Role of genetic polymorphisms in DNA repair genes ((XRCC1, XRCC2, XRCC3, XRCC4, XRCC5, XRCC6, XRCC7) in head and neck cancer susceptibility in rural Indian population: A hospital based case-control study from south- western Maharashtra. Int. J. Curr. Res. 2016;8:25482-92.

Xing D, Tan W, Wei Q, Lin D. Polymorphisms of the DNA repair gene XPD and the risk of Lung cancer in Chinese population. Lung Cancer. 2002; 38:123-9.

Spitz MR, Wu X, Wang Y, Wang LE, Shete S, Amos CI, et al. Modulation of nucleotide excision repair capacity by XPD polymorphisms in lung cancer patients. Cancer Res. 2001;61:1354-7.

Benhamou S, Sarasin A. ERCC2/XPD gene polymorphisms and cancer risk. Mutagenesis. 2002; 17: 463-469.

Mohrenweiser HW, Wilson DM, Jones IM. Challenges and complexities in estimating both the functional impact and the disease risk associated with the extensive genetic variation in human DNA repair genes. Mutat Res. 2003;526:93-125.

Kipikasova L, Wolaschka T, Bohus, P, Baumohlová H, Bober J, Blazejov, J, et al. Polymorphisms of the XRCC1 and XPD genes and breast cancer risk: a case–control study. Pathol. Oncol. Res. 2008;14:131-5.

Winsey SL, Harsh NA, Marsh HP, Bunce M, Marshall SE, Harris AL, et al. A variant within the DNA repair gene XRCC3 is associated with the development of melanoma. Cancer Res. 2000;60: 5612-6.

Sobti RC, Singh J, Kaur P, Pachouri S, Siddiqui EA, Bindra HS. XRCC1codon 399 and ERCC2 codon 751 polymorphism, smoking, and drinking and risk of esophageal squamous cell carcinoma in a North Indian population. Cancer Genet Cytogenet. 2007;175:91-7.

Kumar A, Pant MC, Singh HS, Khandelwal S. Associated risk of XRCC1 and XPD cross talk and life style factors in progression of head and neck cancer in north Indian population. Mut. Res. 2012;729:24-34.

Mandal R, Gangwar R, Kapoor R, Mittal R. Polymorphisms in base-excision & nucleotide-excision repair genes & prostate cancer risk in north Indian population. Indian J Med Res. 2012;135:64-71.

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Published

2017-01-02

How to Cite

Datkhile, K. D., Vhaval, R. D., Patil, M. N., Khamkar, T. S., Durgawale, P. P., Chougule, P. G., Tata, N., Patankar, R., Gudur, A., & Kakade, S. V. (2017). Identification of genetic polymorphisms in DNA repair xenoderma pigmentosum group D gene and its association with head and neck cancer susceptibility in rural Indian population: a hospital based case-control study from south-western Maharashtra, India. International Journal of Research in Medical Sciences, 4(6), 1997–2005. https://doi.org/10.18203/2320-6012.ijrms20161749

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