Association of Polymorphism of Lys589glu Exo1 Gene with the Risk of Colorectal Cancer in the Polish Population

• Authors: Jacek Kabziński , Karolina Przybylowska , Michał Mik , Andrzej Sygut , Łukasz Dziki , Adam Dziki , Ireneusz Majsterek
• Languages of publication: EN

Abstracts

EN

The incidence of colorectal cancer (CRC) is increasing from year to year. Despite intensive research CRC etiology remains unknown. Studies suggest that at the basis of the process of carcinogenesis can lie reduced efficiency of DNA repair mechanisms, often caused by polymorphisms in DNA repair genes. The aim of the study was to determine the relationship between gene polymorphism Lys589Glu of EXO1 gene and modulation of the risk of colorectal cancer in the Polish population. Determination of the molecular basis of carcinogenesis process and predicting increased risk will allow qualifying patients to increased risk group and including them in preventive program. Material and methods. The material used in study was blood collected from 130 patients diagnosed with colorectal cancer. The control group consisted of 135 healthy people. Genotyping was performed by TaqMan method. Results. The results obtained indicate that the genotype Lys/Glu is associated with an increased risk of colorectal cancer (OR 1.811, 95% Cl 1.031-3.181, p = 0.038). Conclusion. On the basis of these results, we conclude that Exo1 gene polymorphism Lys589Glu may be associated with an increased risk of colorectal cancer.

Keywords

EN

colorectal cancer; polymorphisms; EXO1; DNA repair

• Publisher: De Gruyter Open
• Journal: Polish Journal of Surgery
• Year: 2015
• Volume: 86
• Issue: 8
• Pages: 370-373

Dates

published

1 - 8 - 2014

received

14 - 7 - 2014

online

3 - 10 - 2014

Contributors

author

Jacek Kabziński

• Department of Clinical Chemistry and Biochemistry, Medical University in Łódź

author

Karolina Przybylowska

• Department of Clinical Chemistry and Biochemistry, Medical University in Łódź

author

Michał Mik

• Department of General and Colorectal Surgery, Medical University in Łódź

author

Andrzej Sygut

• Department of General and Colorectal Surgery, Medical University in Łódź

author

Łukasz Dziki

• Department of General and Colorectal Surgery, Medical University in Łódź

author

Adam Dziki

• Department of General and Colorectal Surgery, Medical University in Łódź

author

Ireneusz Majsterek

• Department of Clinical Chemistry and Biochemistry, Medical University in Łódź

References

• 1. Iyer R, Pluciennik A, Burdett V, Modrich P: DNA mismatch repair: functions and mechanisms. Chem Rev 2006; 106 (2): 302-23.
• 2. Hsieh P, Yamane K: DNA mismatch repair: Molecular mechanism, cancer, and ageing. Mech Ageing Dev 2008; 129(7-8): 391-407[WoS]
• 3. Friedberg EC , Walker GC, Siede W et al.: DNA repair and Mutagenesis, 2nd edition, ASM press.
• 4. Tran HT, Gordenin DA, Resnick MA: The 3’->5’ Exonucleases of DNA Polymerases δ and the 5’->3’ Exonuclease Exo1 Have Major Roles in Postreplication Mutation Avoidance in Saccharomyces cerevisiae Mol Cell Biol 1999 March; vol. 19: no. 3.
• 5. Tishkoff DX, Boerger AL, Bertrand P: Identification and characterization of Saccharomyces cerevisiae EXO1, a gene encoding an exonuclease that interacts with MSH2 Proc Natl Acad Sci USA 1997 Jul 8; 94.[Crossref]
• 6. Eccleston J, Yan C, Yuan K: Mismatch repair proteins MSH2, MLH1, and EXO1 are important for class-switch recombination events occurring in B cells that lack nonhomologous end joining. J Immunol 2011 Feb 15; 186.[WoS]
• 7. Schmutte C, Sadoff MM, Shim KS : The interaction of DNA mismatch repair proteins with human exonuclease I. J Biol Chem (United States) 276 (35): 33011-18.
• 8. Neelam S. Amin, My-Nga Nguyen: Scott Oh exo1- Dependent Mutator Mutations: Model System for Studying Functional Interactions in Mismatch Repair Mol. Cell Biol 2001 Aug; vol. 21: no. 15.
• 9. Zheng J, Chunxiang L, Ye X: A meta-analysis on XRCC1 and XRCC3 polymorphisms and colorectal cancer risk. Int J Colorectal Dis 2010; 25:169-80.
• 10. Turnbull C, Seal S, Renwick A: Gene-gene interactions in breast cancer susceptibility. Hum Mol Genet 2012 Feb 15; 21(4): 958-62.
• 11. Shantie Jagmohan-Changur, Taija Poikonen, Susa Vilkki: EXO1 Variants Occur Commonly in Normal Population. Evidence against a Role in Hereditary Nonpolyposis Colorectal Cancer. Cancer Res January 1, 2003; 63: 154.
• 12. Goode EL, Ulrich CM, Potter JD: Polymorphisms in DNA Repair Genes and Associations with Cancer Risk Cancer. Epidemiol Biomarkers Prev 2002; 11: 1513.[WoS]
• 13. Dunning AM, Healey CS , Pharoah PDP: A Systematic Review Of Genetic Polymorphisms and Breast Cancer Risk Cancer Epidemiol Biomarkers Prev 1999; 8: 843.

Identifiers

DOI

10.2478/pjs-2014-0066