PKP-004 Genetic polymorphisms associated with colorectal cancer risk

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Colorectal cancer (CRC) is currently the most frequent malignant gastrointestinal disease. Some recent publications have proposed that genetic polymorphisms (single nucleotide polymorphism (SNP)) in different genes may be potential markers of CRC risk.


This study aimed to determine the association of SNP in KIF9, PLCE1, MLH1, CYP2E1, TP53 and SMAD7 genes with susceptibility to the development of CRC.

Material and methods

A retrospective case control study was performed where 126 cases and 169 control CRC patients of Caucasian ethnicity were included. The genotypes of the selected polymorphisms from KIF9 (rs1076394), PLCE1 (rs11187842), MLH1 (rs1800734), CYP2E1 (rs1329149), TP53 (rs1042522) and SMAD7 (rs4464148) genes were determined in different individuals using real time PCR with TaqMan probes. The results were then analysed under different genetic models (additive, genotypic, allelic, dominant and recessive) to look for an association between with CRC risk.


The G allele from SNP MLH1 rs1800734 was found to be a protective marker for CRC in the genotypic model (ORAG vs AA: 0.17; 95% CI 0.05–0.49; p=0.0015; ORGG vs AA: 0.31; 95% CI 0.10–0.80; p=0.0217), besides gender and BMI in the multivariate statistical model. The rest of the polymorphisms were not found to be associated with CRC risk.


AA genotype from SNP MLH1 rs1800734 is a marker of CRC risk.


No conflict of interest

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