Association study of APC polymorphisms with colorectal cancer in Han Chinese

Objectives Colorectal cancer (CRC) is a common malignancy with worldwide prevalence. Familial adenomatous polyposis (FAP), a predisposition syndrome of CRC, is caused by germ line mutations in the APC gene. Mutations in APC are thought to be an early event in colorectal tumorigenesis. We hypothesized that common variants in APC might be associated with CRC. Design and methods A case-control study genotyping ten SNPs was conducted in 312 CRC patients and 270 normal controls in the Chinese Han population. Results The genotype frequency of rs2019720 showed a significant difference between cases and controls (p = 0.046, after Bonferroni correction). For the three pairs of SNPs in strong LD, we carried out haplotype analyses but no significant association was detected. Conclusion Our results suggest that APC polymorphisms might be associated with CRC in the Chinese Han population.