A novel polymorphism in the promoter of the RAGE gene is associated with non-small cell lung cancer

摘要: Abstract The receptor for advanced glycosylation endproducts (RAGE) is abundant at both the transcriptional and translational level in normal lung but not expressed non-small cell cancer (NSCLC). In order to determine whether sequence variations might be responsible inactivation of RAGE NSCLC, we investigated gene primary NSCLCs corresponding tissues nine patients. Although analysis revealed no somatic, tumor-associated mutations, six novel variants were identified: T→A promoter region 388 bp upstream start codon: exon 1 (Ala2Ala), C→G 3 (Val89Val), C→T intron 6, G→C 10 (Arg365Ser Arg369Gly). addition, detected a 63 deletion (358–421 codon) one NSCLC patient. transversion was three Further this polymorphic locus 54 patients 59 non-cancer controls significant difference genotype distribution between controls. Interestingly, AA more common (20.8%) than (3.5%). cumulative occurrence variant suggests that putative risk factor development.