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Impact of EXO1 polymorphism in susceptibility to colorectal cancer.
- Source :
-
Genetic testing and molecular biomarkers [Genet Test Mol Biomarkers] 2010 Oct; Vol. 14 (5), pp. 649-52. Date of Electronic Publication: 2010 Sep 20. - Publication Year :
- 2010
-
Abstract
- Background and Aim: One candidate gene for colorectal cancer (CRC) susceptibility is exonuclease 1 (EXO1). It is a member of RAD2 nuclease family, which plays a major role in mismatch repair, DNA replication, and recombination. Single-nucleotide polymorphisms are shown to be related with cancer incidence. The aim of the present study was to examine the association between the L757P polymorphism at exon 13 of the EXO1 gene and the risk of CRC in Iranian patients.<br />Methods: In this case-control study, 90 cases and 98 healthy control samples were analyzed genetically. The EXO1 polymorphism, P757L, was analyzed by polymerase chain reaction-restriction fragment length polymorphism. The obtained polymorphisms were examined for the relationship with CRC risk and also clinicopathological characteristics.<br />Results: Our findings showed that patients with the Leu/Leu genotype have a reduced risk of CRC (adjusted odds ratio [OR] = 0.192, 95% confidence interval [CI]: 0.040-0.921) when the Pro/Leu and Pro/Pro genotypes were blended and they were considered as the reference. The Leu/Leu genotype also showed a reduced risk (adjusted OR = 0.168, 95% CI: 0.034-0.816) when the Pro/Pro genotype was a reference; nevertheless, the Pro/Leu genotype did not reveal a significant association with CRC at the same status (adjusted OR = 0.686, 95% CI: 0.367-1.284).<br />Conclusions: Our results provide evidence diagnosing that the Leu/Leu genotype of EXO1 showed an inverse association with CRC. In addition, despite other investigations, we could define a significant association between the Leu allele and CRC (p = 0.001).
- Subjects :
- Adenocarcinoma epidemiology
Aged
Amino Acid Substitution
Case-Control Studies
Colorectal Neoplasms epidemiology
Female
Gene Frequency
Genetic Predisposition to Disease genetics
Genotype
Humans
Iran epidemiology
Male
Middle Aged
Mutation, Missense
Point Mutation
Polymerase Chain Reaction
Polymorphism, Restriction Fragment Length
Adenocarcinoma genetics
Colorectal Neoplasms genetics
DNA Repair Enzymes genetics
Exodeoxyribonucleases genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1945-0257
- Volume :
- 14
- Issue :
- 5
- Database :
- MEDLINE
- Journal :
- Genetic testing and molecular biomarkers
- Publication Type :
- Academic Journal
- Accession number :
- 20854105
- Full Text :
- https://doi.org/10.1089/gtmb.2010.0034