rs7380824 Polymorphism Contributes to the Susceptibility of Colorectal Cancer in Chinese Population.

, an endoplasmic reticulum-localized protein with multiple transmembrane domains, has been implicated in colorectal cancer (CRC) development. This study investigated the association between rs7380824 polymorphism and CRC susceptibility using both bioinformatics analysis and a case-control study. Bioinformatics predictions from SIFT and PolyPhen indicated that the rs7380824 variant, which results in an amino acid substitution from arginine (R) to glutamine (Q) at position 293, is likely to be deleterious, with a SIFT score of 0.000 and a PolyPhen score of 0.999. A total of 870 CRC patients and 870 healthy controls were genotyped using polymerase chain reaction-restriction fragment length polymorphism. Logistic regression analysis demonstrated that individuals carrying the CT and TT genotypes had an increased risk of CRC with OR (95% CI) of 1.564 (1.115-2.192) and 1.551 (1.271-1.893), respectively. Stratified analysis showed that the rs7380824 C > T variant increased CRC risk in all age and gender groups. Furthermore, non-smokers with the CT or TT genotype had a higher CRC risk (OR = 1.661, 95% CI: 1.333-2.071, < 0.001), while no significant association was observed among smokers ( = 0.238). Similarly, non-drinkers carrying the CT or TT genotype showed an increased CRC risk (OR = 1.746, 95% CI: 1.395-2.185, < 0.001), whereas no significant difference was detected among drinkers ( = 0.265). This study identifies rs7380824 polymorphism as a significant contributor to CRC susceptibility, with bioinformatics predictions and case-control analysis confirming its deleterious impact and the association with increased CRC risk. In addition, these findings underscore the interplay between genetic and environmental factors in CRC development, highlighting 's potential as a genetic biomarker for CRC risk assessment in the Chinese population.