ATG 16 L 1 rs 2241880 polymorphism predicts unfavorable clinical outcomes for colorectal cancer patients in the Chinese population

Numerous studies have shown that the single-nucleotide polymorphism (SNP) rs2241880 (Thr300Ala) of autophagy related 16-like 1 (ATG16L1) is strongly associated with development of Crohn’s disease, which represents a risk factor for colorectal cancer (CRC). To date, the role of ATG16L1 rs2241880 polymorphism in CRC remains unclear. In this study, we aim to determine if the rs2241880 SNP is correlated with the risk of developing CRC and to investigate the prognostic value of this SNP in patients with CRC in the Chinese population. No significant association was found between the ATG16L1 genotypes and clinicopathological parameters. We observed that ATG16L1 rs2241880 was not associated with the risk of CRC. However, compared to those with AA and AG genotypes, CRC patients carrying the GG genotype at ATG16L1 showed a marginal trend to be diagnosed with CRC at younger age (recessive model) (P=0.067). Besides, overall median follow-up time was significantly decreased in patients with the GG genotype (recessive model) (P=0.027). Kaplan-Meier survival analysis exhibited that patients carrying the GG genotype of rs2241880 had worse overall survival than those with the AA and AG genotype (P<0.001). In multivariate analyses, rs2241880 GG genotype was revealed as an independent prognostic marker for overall survival (HR=4.70, P<0.001). These results suggest that GG genotype of rs2241880 may predict unfavorable outcome of patients with colorectal cancer. Further investigations are required to explore the role and mechanism of the polymorphism rs2241880 at ATG16L1 in colorectal cancer.