Among the SNPs associated with diseases (table 3), we cite some examples mapping in 5′UTRs, and showing a moderate impact (expressed as odds ratio) in cancer or autoimmune pathologies. For example, Tanikawa and colleagues found the SNP rs2294008 to be associated with duodenal ulcer in the PSCA gene, encoding prostate stem cell antigen. This gene is a good candidate, being highly expressed in several tissues, such as bladder, placenta, colon, kidney, and stomach, and also being detected in pancreatic and bladder cancers. The SNP risk allele for the disease encodes a translation initiation codon upstream of the reported site, thus changing protein localization from the cytoplasm to the cell surface.96
