Immune-related genes STIM1, ITPKC and PELI1 polymorphisms are associated with risk of colorectal cancer.

Abstract

STIM1, ITPKC and PELI1 are all immune-related genes that take part in the T cell activation, toll-like receptor and IL1 receptor pathways. The goal of this study was to evaluate the associations between STIM1, ITPKC and PELI1 polymorphisms and colorectal cancer (CRC) risk. Six single nucleotide polymorphisms (SNPs) in STIM1, ITPKC and PELI1 were genotyped using a MassARRAY platform in a discovery cohort including 480 CRC cases and 480 healthy individuals and validated in a replication cohort including 505 CRC cases and 510 controls. The minor alleles of rs3794050, rs3750996 and rs2607420 were associated with an increased CRC risk (P < 0.05). In contrast, the minor allele of rs329497 was correlated with reduced disease risk (P = 0.025). Genetic model analysis showed that rs3794050 was related to an increased risk of disease in recessive and log-additive models (P < 0.05); rs3750996 had a strong correlation with CRC risk under all genetic models (P < 0.02); rs2607420 was correlated with an increased risk of disease in dominant and log-additive models (P < 0.01); whereas the protective effect of rs329497 on CRC risk was observed in dominant and log-additive models (P < 0.05). Finally, the association between the above SNPs and CRC risk was validated in a replication cohort (P < 0.05). Our results could be helpful for the early screening of individuals with high CRC risk.