Abstract
Background
This study investigates the association of single nucleotide polymorphism in glutathione S transferase P1 (rs1695 and rs1138272) and phosphatase and TENsin homolog (rs701848 and rs2735343) with the risk of colorectal cancer (CRC).
Patients and methods
In this case-control study, 250 healthy controls and 200 CRC patients were enrolled. All subjects were divided into 3 groups: healthy control, patients, and overall (control + patients). Genotyping was performed using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). The demographic information, including age, gender, location, smoking status, cancer stage, and node involvement, were collected.
Results
The allele frequencies of PTEN rs701848 in overall subjects were 0.78 for C and 0.22 for T. Similarly, in overall individuals, allele frequencies for PTEN rs2735343 were 0.65 and 0.35 for G and C alleles, respectively. The CC genotype or C allele of rs701848 and CG/GG genotype of rs2735343 were observed to be a risk factor for CRC. In overall individuals, a significant (p ≤ 0.05)) association was observed between rs701848 and rs2735343 polymorphisms CRC. Allele frequencies for GSTP1 rs1695 were 0.68 and 0.32 for the A and G alleles, respectively. Allele frequencies for GSTP1 rs1138272 were 0.68 and 0.32 for C and T alleles, respectively. However, a significant (p < 0.05) association was found in males for rs1695, while a non-significant difference was observed for the distribution of any genotypes or alleles at GSTP1 (rs1138272).
Conclusions
Both SNPs of PTEN rs701848 and rs2735343 polymorphisms were significantly associated with CRC. However, in GSTP1, rs1695 was significantly associated with CRC risk in males, and rs1138272 showed a non-significant association with colorectal cancer risk.