Common polymorphisms in the XPD and hOGG1 genes are not associated with the risk of colorectal cancer in a Polish population.

Mutations in the DNA repair genes may contribute to the increased risk of cancer, including colorectal cancer. Xeroderma pigmentosum group D (XPD) protein and human homolog of the 8-oxoguanine glycosylase 1 (hOGG1) are involved in nucleotide excision repair and base excision repair, respectively. The XPD and the hOGG1 genes are highly polymorphic, and some of their polymorphisms are associated with several types of cancers. However, there is controversy as to the relationship between their polymorphisms and the risk of colorectal cancer. In the present study, we therefore searched for the association in a Polish population between colorectal cancer and two common polymorphisms: an A --> C transversion in the XPD gene that produces a Lys-to-Gln substitution at codon 751 (the Lys751Gln polymorphism; rs28365048) and a C --> G transversion in the hOGG1 gene resulting in a Ser-to-Cys change at codon 326 (the Ser326Cys polymorphism; rs1052133). Genotypes were determined using peripheral blood lymphocytes of 100 colorectal cancer patients and 100 age-, sex- and ethnicity-matched cancer-free controls by PCR and restriction fragment-length polymorphism analysis. We did not find statistically significant association between each polymorphism and the occurrence of colorectal cancer, and did not observe any relationship between each polymorphism and colorectal cancer progression assessed by node metastasis, tumor size and Duke's stage. Moreover, there was no correlation between combined genotypes of the two polymorphisms and colorectal cancer. Therefore, the Lys751Gln polymorphism of the XPD gene and the Ser326Cys polymorphism of the hOGG1 gene are not associated with colorectal cancer in a Polish population.