The association of CYP2C9 gene polymorphisms with colorectal carcinoma in Han Chinese

Abstract Background Cytochrome P450 (CYP) 2C9 is an important enzyme involved in xenobiotics metabolism. This study investigated the association of CYP2C9 gene coding region polymorphisms with colorectal cancer (CRC) in Chinese Han population. Methods Four hundred and eighty-three healthy controls and 286 sporadic CRC patients participated in this study. Direct sequencing was used to identify the sequence polymorphisms. Results We detected the significant association of 2 coding region SNPs, rs1057910 and rs1057911, of CYP2C9 with the risk of developing sporadic CRC for Han Chinese. These 2 SNPs showed a strong linkage disequilibrium (LD) ( r 2  = 0.97, D ′ = 0.985). Significantly different minor allele frequencies were found for SNPs rs1057910 and rs1057911 between the cases (7% and 7.2%, respectively) and controls (3% and 2.9%, respectively) with adjusted P  = 0.0004 and 0.0002, respectively. Individuals heterozygous for rs1057910A/C or rs1057911A/T showed 2.589-fold (95% CI: 1.549–4.330) or 2.770-fold (95% CI 1.653–4.643) increased risk of developing sporadic CRC. We did not detect any homozygote minor allele carrier for either rs1057910 or rs1057911 in our study population. The CRC association appeared to be more evident for individuals over age 50 y, for men, and for rectum cancer site. Conclusion There is an association of CYP2C9 coding region polymorphisms with the risk of developing CRC in Han Chinese after genotyping cases and controls recruited from different locations in China.