- Volume 16 Issue 15
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Polymorphism of the DNA Repair Gene XRCC1 (Arg194Trp) and its role in Colorectal Cancer in Kashmiri Population: a Case Control Study
- Nissar, Saniya (Department of Biochemistry, University of Kashmir) ;
- Sameer, Aga Syed (Department of Basic Medical Sciences, College of Medicine, King Saud Bin Abdul Aziz University for Health Sciences) ;
- Rasool, Roohi (Department of Immunology and Molecular Medicine, Sher-I-Kashmir Institute of Medical Sciences) ;
- Chowdri, Nissar A (Department of Surgery, Sher-I-Kashmir Institute of Medical Sciences) ;
- Rashid, Fouzia (Department of Clinical Biochemistry, University of Kashmir)
- Published : 2015.10.06
Background: Genetic polymorphisms in DNA repair genes may influence individual variation in DNA repair capacity, which may be associated with risk of developing cancer. For colorectal cancer the importance of mutations in mismatch repair genes has been extensively documented. Materials and Methods: In this study we focused on the Arg194Trp polymorphism of the DNA repair gene XRCC1, involved in base excision repair (BER) and its role in colorectal cancer in Kashmiri population. A case-control study was conducted including 100 cases of colorectal cancer, and 100 hospital-based age- and sex-matched healthy controls to examine the role of XRCC1 genetic polymorphisms in the context of colorectal cancer risk for the Kashmiri population. Results: Genotype analysis of XRCC1 Arg194Trp was conducted with a restriction fragment length polymorphism (RFLP) method. The overall association between the XRCC1 polymorphism and the CRC cases was found to be significant (p < 0.05) with both the heterozygous genotype (Arg/Trp) as well as homozygous variant genotype (Trp/Trp) being moderately associated with the elevated risk for CRC [OR=2.01 (95% CI=1.03-3.94) and OR=5.2(95% CI=1.42-19.5)] respectively. Conclusions: Our results suggest an increased risk for CRC in individuals with XRCC1 Arg194Trp polymorphism suggesting BER repair pathway modulates the risk of developing colorectal cancer in the Kashmiri population.
Colorectal cancer;Kashmir;polymorphism;DNA repair;RFLP;XRCC1;BER
- Abdel-Rahman SZ, Soliman AS, Bondy ML, et al (2000). Inheritance of the 194Trp and the 399Gln variant alleles of the DNA repair gene XRCC1 are associated with increased risk of early-onset colorectal carcinoma in Egypt. Cancer Lett, 159, 79-86. https://doi.org/10.1016/S0304-3835(00)00537-1
- Berndt SI, Huang WY, Fallin MD, Helzlsouer KJ, Platz EA, Weissfeld JL, et al (2007). Genetic variation in base exicision repair genes and the prevalence of advanced colorectal adenoma. Cancer Res, 67, 1395-1404. https://doi.org/10.1158/0008-5472.CAN-06-1390
- Berwick M and Vineis P (2000). Markers of DNA repair and susceptibility in humans :an epidemiological review. J Natl Cancer Inst, 91, 874-97.
- Brem R and Hall J (2005). XRCC1is required for DNA singlestrand break repair in human cells. Nucleic Acids Research, 33, 2512-20. https://doi.org/10.1093/nar/gki543
- Chen B, Zhou Y, Yang P, Wu XT (2012). Polymorphisms of XRCC1 and gastric cancer susceptibility, a meta-analysis. MolBiol Rep, 39, 1305-13.
- Chiyomaru K, Nagano T, Nishigori C (2012). XRCC1 Arg194Trp polymorphism,risk of nonmelanoma skin cancer and extramammary Paget's disease in a Japanese population. Arch Dermatol Res, 304, 363-70. https://doi.org/10.1007/s00403-012-1245-1
- Christmann M, Tomicic MT, Roos WP, Kaina B (2003). Mechanisms of human DNA repair, an update. Toxicology, 193, 3-34. https://doi.org/10.1016/S0300-483X(03)00287-7
- Curtin K, Samowitz WS, Wolff RK, et al (2009). Assessing tumor mutations to gain insight into base excision repair sequence polymorphisms and smoking in colon cancer. Cancer Epidemiol Biomarkers Prev, 18, 3384-8. https://doi.org/10.1158/1055-9965.EPI-09-0955
- Custodio AC, Almeida LO, Pinto GR, et al (2011). Analysis of the polymorphisms XRCC1Arg194Trp and XRCC1Arg399Gln in gliomas. Genet Mol Res, 10, 1120-9. https://doi.org/10.4238/vol10-2gmr1125
- de Boer JG (2002). Polymorphisms in DNA repair and environmental interactions. Mutat Res, 509, 201-10. https://doi.org/10.1016/S0027-5107(02)00217-8
- Du Y, Han LY, Li DD, et al (2013). Associations between XRCC1 Arg399Gln, Arg194Trp, and Arg280His polymorphisms and risk of differentiated thyroid carcinoma, a meta-analysis. Asian Pac J Cancer Prev, 14, 5483-7. https://doi.org/10.7314/APJCP.2013.14.9.5483
- Duarte MC, Colombo J, Rossit AR, et al (2005). Polymorphisms of DNA repair genes XRCC1 and XRCC3, interaction with environmental exposure and risk of chronic gastritis and gastric cancer. World J Gastroenterol, 11, 6593-600 https://doi.org/10.3748/wjg.v11.i42.6593
- Duell E J, Millikan RC, Pittman GS, et al (2001). Polymorphisms in the DNA repair gene XRCC1 and breast cancer. Cancer Epidemiol Biomark Prev, 10, 217-222.
- Feng YZ, Liu YL, He XF, et al (2014) Association between the XRCC1 Arg194Trp polymorphism and risk of cancer, evidence from 201 case-control studies. Tumour Biol, 35, 10677-97. https://doi.org/10.1007/s13277-014-2326-x
- Friedberg EC (2003). DNA damage and repair. Nature, 421, 436-40. https://doi.org/10.1038/nature01408
- Gao CM, Ding JH, Li SP, et al (2013). Polymorphisms in XRCC1 gene, alcohol drinking, and risk of colorectal cancer, a casecontrol study in Jiangsu Province of China. Asian Pac J Cancer Prev, 14, 6613-8. https://doi.org/10.7314/APJCP.2013.14.11.6613
- Gellad ZF, Provenzale D (2010). Colorectal cancer, national and international perspective on the burden of disease and public health impact. Gastroenterology, 138, 2177-90. https://doi.org/10.1053/j.gastro.2010.01.056
- Goode EL, Ulrich CM, Potter JD (2002). Polymorphisms in DNA repair genes and associations with cancer risk. Cancer Epidemiol Biomarkers Prev, 11, 1513-30.
- Hoeijmakers JHJ (2001). Genome maintenance mechanisms for preventing cancer. Nature, 411, 366-374. https://doi.org/10.1038/35077232
- Hong YC, Lee KH, Kim WC, Choi SK, Woo ZH, Shin SK et al. (2005), Polymorphisms of XRCC1 gene, alcohol consumption and colorectal cancer. Int J Cancer, 116, 428-432. https://doi.org/10.1002/ijc.21019
- Improta G, Sgambato A, Bianchino G, et al (2008). Polymorphisms of the DNA repair genes XRCC1 and XRCC3 and risk of lung and colorectal cancer, a case-control study in a Southern Italian population. Anticancer Res, 28, 2941-6.
- Jemal A, Bray F, Center MM, et al (2011). Global cancer statistics. CA Cancer J Clin, 61, 69-90. https://doi.org/10.3322/caac.20107
- Lamerdin JE, Montgomery MA, Stilwagen SA, Scheidecker LK, Tebbs RS, Brookman KW, et al (1995). Genomic sequence comparison of the human and mouse XRCC1 DNA repair gene regions. Genomics, 25, 547-54. https://doi.org/10.1016/0888-7543(95)80056-R
- Lee SG, Kim B, Choi J, Kim C, Lee I, Song K (2002). Genetic polymorphisms of XRCC1 and risk of gastric cancer. Cancer Letters, 187, 53-60. https://doi.org/10.1016/S0304-3835(02)00381-6
- Li J, Mu L, Wei G (2005). Relationship between polymorphismsof DNA repair gene XRCC1 and susceptibility to lung cancer. China Oncology, 15, 335-8.
- Li W, Yang F, Gui Y, Bian J (2014). DNA repair gene XRCC1 Arg194Trp polymorphism and susceptibility to hepatocellular carcinoma, A meta-analysis. Oncol Lett, 8, 1725-30.
- Lindahl T, Wood RD (1999). Quality control by DNA repair. Science, 286, 1897-1905. https://doi.org/10.1126/science.286.5446.1897
- Liu C, Yin Q, Li L, et al (2013). XRCC1 Arg194Trp and Arg280His polymorphisms in bladder cancer susceptibility, ameta-analysis. Crit Rev Eukaryot Gene Expr, 23, 339-54. https://doi.org/10.1615/CritRevEukaryotGeneExpr.2013007781
- Mao D, Zhang Y, Lu H, FuX (2013). Association between X-ray repair cross-complementing group 1 Arg194Trp polymorphism and colorectal cancer risk. Tumor Biol, 34, 2529-38. https://doi.org/10.1007/s13277-013-0760-9
- Marsin S, Vidal AE, Sossou M, et al (2003). Role of XRCC1 in the coordination and stimulation of oxidative DNA damage repair initiated by the DNA glycosylase hOGG1. J Biological Chemistry, 278, 44068-74. https://doi.org/10.1074/jbc.M306160200
- Maynard S, Schurman SH, Harboe C, de Souza-Pinto NC, Bohr VA (2009). Base excision repair of oxidative DNA damageand association with cancer and aging. Carcinogenesis, 30, 2-10.
- Mir MM, Dar NA, Gochhait S, et al (2005). p53 Mutation profile of squamous cell carcinomas of the esophagus in Kashmir (India), a high-incidence area. Int J Cancer, 116, 62-68. https://doi.org/10.1002/ijc.21002
- Moreno V, Gemignani F, Landi S, et al (2006). Polymorphisms in genes of nucleotide and base exicision repair, risk and prognosis of colorectal cancer. Clin Cancer Res, 12, 2101-8. https://doi.org/10.1158/1078-0432.CCR-05-1363
- Mort R, Mo L, McEwan C, Melton DW (2003). Lack of involvement of nucleotide excision repair gene polymorphisms in colorectal cancer. Br J Cancer, 89, 333-7. https://doi.org/10.1038/sj.bjc.6601061
- Muniz-Mendoza R, Ayala-Madrigal ML, Partida-Perez M, et al (2012). MLH1 and XRCC1 polymorphisms in Mexican patients with colorectal cancer. Genet Mol Res, 11, 2315-20. https://doi.org/10.4238/2012.June.27.6
- Naccarati A, Pardini B, Hemminki K, Vodika P (2007). Sporadic colorectal cancer and individual susceptibility, a review of the association studies investigating the role of DNA repair genetic polymorphisms. Mutat Res, 635, 118-45. https://doi.org/10.1016/j.mrrev.2007.02.001
- Nissar S, Lone TA, Banday MZ, et al (2013). XRCC1 Arg 399 Gln polymorphism and risk of colorectal cancer, a case control study in Kashmiri Population. Oncol Lett, 5, 959-63.
- Rasool MT, Lone MM, Wani ML, et al (2012). Cancer in Kashmir, India, Burden and pattern of disease. J Can Res Ther, 8, 243-6. https://doi.org/10.4103/0973-1482.98978
- Sameer AS, Nissar S, Abdullah S, Chowdri NA, Siddiqi MA (2012). DNA repair gene 8-oxoguanine DNA glycosylase Ser326Cys polymorphism and colorectal cancer risk in a Kashmiri population. DNA Cell Biol, 31, 541-6. https://doi.org/10.1089/dna.2011.1349
- Sameer AS (2013a). Colorectal cancer, a researcher's perspective of the molecular angel's gone eccentric in the Vale of Kashmir. Tumor Biol, 34, 1301-15. https://doi.org/10.1007/s13277-013-0692-4
- Sameer AS (2013b). Colorectal cancer, molecular mutations and polymorphisms. Front Oncol, 3, 114.
- Shen MR, Jones IM, Mohrenweiser H (1998). Non conservative amino acid substitution variants exist at polymorphic frequency in DNA repair genes in healthy humans. Cancer Res, 58, 604-8.
- Skjelbred CF, Saebo M, Wallin H, et al (2006). Polymorphisms of the XRCC1, XRCC3 and XPD genes and risk of colorectal adenoma and carcinoma, in a Norwegian cohort, a case control study. BMC Cancer, 16, 67.
- Sliwinski T, Krupa R, Wisniewska-Jarosinska M, et al (2008). No association between the Arg194Trp and Arg399Gln polymorphisms of the XRCCI gene and colorectal cancer risk and progression in a Polish population. Exp Oncol, 30, 253-254.
- Stern MC, Conti DV, Siegmund KD, et al (2007). DNA repair single-nucleotide polymorphisms in colorectal cancer and their role as modifiers of the effect of cigarette smoking and alcohol in the Singapore Chinese Health Study. Cancer Epidemiol Biomark Prev, 16, 2363-72 https://doi.org/10.1158/1055-9965.EPI-07-0268
- Stern MC, Siegmund KD, Corral R, Haile RW (2005). XRCC1 and XRCC3 polymorphisms and their role as effect modifiers of unsaturated fatty acids and antioxidant intake on colorectal adenomas risk. Cancer Epidemiol Biomarkers Prev, 14, 609-15. https://doi.org/10.1158/1055-9965.EPI-04-0189
- Thompson LH and West MG (2000). XRCC1 keep DNA from getting stranded. Mutation Research, 459, 1-18. https://doi.org/10.1016/S0921-8777(99)00058-0
- Vidal AE, Boiteux S, Hickson ID, Radicella JP (2001). XRCC1 coordinates the initial and late stages of DNA abasicsiterepairthroughprotein-protein interactions. EMBO Journal, 20, 6530-9. https://doi.org/10.1093/emboj/20.22.6530
- Wang J, Zhao Y, Jiang J, et al (2010). Polymorphisms in DNA repair genes XRCC1, XRCC3 and XPD, and colorectal cancer risk, a case-control study in an Indian population. J Cancer Res Clin Oncol, 136, 1517-25. https://doi.org/10.1007/s00432-010-0809-8
- Wood RD, Mitchell M, Sgouros J, Lindahl T (2001). Human DNA repair genes. Science, 291, 1284-9. https://doi.org/10.1126/science.1056154
- Yeh C-C, Sung F-C, Tang R, Chang-Chieh C, Hsieh L-L (2005). Polymorphisms of the XRCC1, XRCC3,& XPD genes, and colorectal cancer risk, a case-control study in Taiwan. BMC Cancer, 5, 12. https://doi.org/10.1186/1471-2407-5-12
- Yin G, Morita M, Ohnaka K, et al (2012). Genetic polymorphisms of XRCC1, alcohol consumption, and the risk of colorectal cancer in Japan. J Epidemiol, 22, 64-71. https://doi.org/10.2188/jea.JE20110059
- Yu Z, Chen J, Ford BN, Brackley ME, Glickman BW (1999). Human DNA repair systems, an overview. Environ Mol Mutage, 33, 3-20. https://doi.org/10.1002/(SICI)1098-2280(1999)33:1<3::AID-EM2>3.0.CO;2-L
- Zhang Y, Wang Y, Wu J, Li LJ (2013). XRCC1 Arg194Trp polymorphism is associated with oral cancer risk, evidence from ameta-analysis. Tumour Biol, 34, 2321-7. https://doi.org/10.1007/s13277-013-0779-y
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- Lack of correlation between X-ray repair cross-complementing group 1 gene polymorphisms and the susceptibility to colorectal cancer in a Malaysian cohort vol.26, pp.6, 2017, https://doi.org/10.1097/CEJ.0000000000000336