Abstract
BACKGROUND: Colorectal cancer (CRC) is the most common cancer worldwide. Both genetic and environmental factors play an important role in pathogenesis of CRC, susceptibility may be modified by functional polymorphisms in receptor tyrosine kinase genes, such as ErbB4. We here evaluated whether a 12-bp insertion/deletion (indel) polymorphism (rs6147150) in the 3'UTR of ErbB4 could potentially affect the occurrence of CRC in Chinese population. METHODS: We studied the genotypic and allelic frequencies of ErbB4 polymorphism in 399 patients with CRC and 419 control participants using polymerase chain reaction and polyacrylamide gel electrophoresis method. RESULTS: Under co-dominant model, we found that the del/del genotype of indel was associated with a significantly increased risk of CRC compared with its homozygote ins/ins (adjusted OR=1.70, 95%CI=1.06-2.71). Under recessive model, carrying of del/del genotype conferred a significantly increased risk for CRC compared with ins/ins and ins/del genotype (adjusted OR=1.60, 95%CI=1.03-2.50). Presence of 12-bp deletion allele of ErbB4 seemed to confer higher risk for CRC when compared with non-carriers (adjusted OR=1.27, 95%CI=1.02-1.57). Further stratification analysis showed that this association was more pronounced in patients with drinking. CONCLUSION: Our data suggested that individuals in Chinese population with the ErbB4 12-bp deletion allele may be at higher risk for CRC, rs6147150 would potentially be a promising novel biomarker for CRC susceptibility. Further validation of our results in larger populations and studies with functional assays are required.