Immune-related genes STIM1, ITPKC and PELI1 polymorphisms are associated with risk of colorectal cancer
Menée à l'aide du génotypage de 480 témoins et 480 patients atteints d'un cancer colorectal, puis validée auprès de 505 patients et 510 témoins supplémentaires, cette étude analyse l'association entre 6 polymorphismes à simple nucléotide des gènes STIM1, ITPKC et PELI1 et le risque de développer la maladie
Objectives: 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. Methods: 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. Results: 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). Conclusions: Our results could be helpful for the early screening of individuals with high CRC risk.