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Abstract
Colorectal Cancer (CRC) is the third comon disease in developed countries, 850000 people per year develop CRC and 500000 die for it. The 92% of cases is among people of 50 years or over 50. The 25% of CRC is familial-hereditary tumor, the other 75% is sporadic CRC. Environmental and genetic factors influence the development of sporadic CRC. A diet rich in fat and poor in fruits and vegetables, sedentarity, smoking and alcohol are risk factors. It is also known that genetic polymorphisms in genes that are involved in inflammatory process, in DNA damage repair process, in the physiology of the digestive apparatus and the xenobiotics metabolism can modulate the genetic susceptibility to CRC. The aim of the study is to identify polymorphisms (within candidate genes involved in the above mentioned processes) that can be associated at the individual susceptibility to develop CRC. A case–control study on 115 cases that are affected by sporadic CRC and 115 controls was carried out in order to investigate the susceptibility to CRC. DNA samples from cases and controls were extracted from peripheral blood. PCR multiplex and APEX (Arrayed Primer Extension) was used to genotyping 278 single nucleotide polymorphisms (SNPs) in 108 candidate genes. A multivariate logistic regression has been used in order to calculate the Odds Ratio and the confidence intervals and the P value. In order to identify specific pathways related to CRC, genes have been classified under pathways using a bioinformatics approach. The importance of each pathway has been evaluated by the number of polymorphisms in it that have an association with CRC. The results were discussed and evaluated under the light of previously published manuscripts.
