The risk for colorectal cancer and polymorphisms of APC gene
Keywords:
Adenomatous polyposis coli, colorectal cancer, polymorphisms.Abstract
Colorectal cancer (CRC) is a complex genetic disease which appears as a result of interactions between multiple genetic and non-genetic factors. In this study we have analyzed the association between four polymorphisms of APC gene (rs41116, rs465899, rs2229992 and rs2019720) and colorectal cancer in Romanian population. After receiving the informed consent, blood samples were obtained from individuals with CRC (M:F=95:85) and from healthy persons (M:F=27:33). Genomic DNA was extracted from peripheral blood samples and the APC gene polymorphisms were assessed by PCR-RFLP. The promoter polymorphism rs2019720 was associated with CRC. Thus, the CC genotype (OR 2.307) and allele C (OR 1.843) increased the disease risk, while the AA genotype (OR 0.453) and allele A (OR 0.543) decreased the CRC risk. We found that the APC polymorphism rs2019720 was associated with CRC in Romanian population.
References
Almeida, R., Morton, N., Fidalgo, P., Leitão, N., Mira, C., Rueff, J., Monteiro, C. (1996) APC intragenic haplotypes in familial adenomatous polyposis, Clin. Genet., 50(6), 483-485
Chen, S. P., Tsai, S. T., Jao, S. W., Huang, Y. L., Chao, Y. C., Chen, Y. L., Wu, C. C., Lin, S. Z., Harn, H. J. (2006) Single nucleotide polymorphisms of the APC gene and colorectal cancer risk: a case-control study in Taiwan, BMC Cancer, 6, 83
Cui, D. H., Jiang, K. D., Jiang, S. D., Xu, Y. F., Yao, H. (2005) The tumor suppressor adenomatous polyposis coli gene is associated with susceptibility to schizophrenia, Mol. Psychiatry, 10(7), 669-677
Fearnhead, N. S., Britton, M. P., Bodmer, W. F. (2001) The ABC of APC, Hum. Mol. Genet., 10(7), 721-733
Fodde, R. (2002) The APC gene in colorectal cancer, Eur. J. Cancer, 38(7), 867-871
Frayling, I. M., Beck, N. E., Ilyas, M., Dove-Edwin, I., Goodman, P., Pack, K., Bell, J. A., Williams, C. B., Hodgson, S. V., Thomas, H. J., Talbot, I. C., Bodmer, W. F., Tomlinson, I. P. (1998) The APC variants I1307K and E1317Q are associated with colorectal tumors, but not always with a family history, Proc. Natl. Acad. Sci. USA, 95, 10722-10727
Goss, K. H., Groden, J. (2000) Biology of the adenomatous polyposis coli tumor suppressor, J. Clin. Oncol., 18(9), 1967-1979
Huang, X., Wang, Y., Yu, T., Liu, B., Li, X., Li, W., Chen, S., Zhao, Q., Li, X., Yang, F., Wang, Q., Wang, J., Xiao, Y., Xu, Y., Feng, G., Peng, Z., He, L., He, G. (2012) Association study of APC polymorphisms with colorectal cancer in Han Chinese, Clin. Biochem., 45(18), 1669-1672
Laurent-Puig, P., Beroud, C., Soussi, T. (1998) APC gene: database of germline and somatic mutations in human tumors and cell lines, Nucleic Acids Res., 26, 269-270
Sieber, O. M., Lamlum, H., Crabtree, M. D., Rowan, A. J., Barclay, E., Lipton, L., Hodgson, S., Thomas, H. J., Neale, K., Phillips, R. K., Farrington, S. M., Dunlop, M. G., Mueller, H. J., Bisgaard, M. L., Bulow, S., Fidalgo, P., Albuquerque, C., Scarano, M. I., Bodmer, W., Tomlinson, I. P., Heinimann, K. (2002) Whole-gene APC deletions cause classical familial adenomatous polyposis, but not attenuated polyposis or "multiple" colorectal adenomas, Proc. Natl. Acad. Sci. USA, 99(5), 2954-2958
Slattery, M. L., Samowitz, W., Ballard, L., Schaffer, D., Leppert, M., Potter, J. D. (2001) A molecular variant of the APC gene at codon 1822: its association with diet, lifestyle, and risk of colon cancer, Cancer Res., 61, 1000-1004
Tarafa, G., Prat, E., Risques, R. A., Gonzalez, S., Camps, J., Grau, M., Guino, E., Moreno, V., Esteller, M., Herman, J. G., Germa, J. R., Miro, R., Peinado, M. A., Capella, G. (2003) Common genetic evolutionary pathways in familial adenomatous polyposis tumors, Cancer Res., 63(18), 5731-5737
Toma, M., Cimponeriu, D., Pompilia, A., Stavarachi, M., Beluşică, L., Radu, I., Gavrilă, L. (2008) Molecular analysis of mutations for the adenomatous polyposis coli (APC) gene in Romanian patients with colorectal cancer, J. of Medicine and Life, 1(4), 423-428
Tranah, G. J., Giovannucci, E., Ma, J., Fuchs, C., Hunter, D. J. (2005) APC Asp1822Val and Gly2502Ser polymorphisms and risk of colorectal cancer and adenoma, Cancer Epidemiol. Biomarkers Prev., 14(4), 863-870
Wallis, Y. L., Morton, D. G., McKeown, C. M., Macdonald, F. (1999) Molecular analysis of the APC gene in 205 families: extended genotype-phenotype correlations in FAP and evidence for the role of APC amino acid changes in colorectal cancer predisposition, J. Med. Genet., 36, 14-20
Downloads
Published
How to Cite
Issue
Section
License
Copyright (c) 2015 Studia Universitatis Babeș-Bolyai Biologia
This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.