Allele | Nucleotide change | Phenotype | Population prevalence |
*28 | (TA)7 TAA in the promoter¶ | Poor metabolizer, significantly associated with irinotecan toxicity | *28 allele commonly found in African (40%) and European (33%) ancestry, but less common in East Asian ancestry (14%)[1]. |
*6 | c.211G>A in exon 1 | Poor metabolizer, significantly associated with irinotecan toxicity | *6 allele more common in East Asian ancestry (13 to 18%) than African (0 to 0.1%) or European (1 to 5%) ancestry[1,2]. |
*93 | –3156G>A in the promoter | Intermediate metabolizer; functional significance not clear, although has been associated with irinotecan toxicity[3] | Commonly found in African (34%) and European (27%) ancestry; less common in East Asian ancestry (13%)[4]. |
UGT1A1: uridine diphospho-glucuronosyltransferase 1A1.
¶ Additional two base-pair T-A (thymine-adenine) repeat in the gene promoter, compared with wild-type UGT1A1 (*1 allele), which is (TA)6 TAA and associated with normal UGT1A1 expression and enzyme activity.Do you want to add Medilib to your home screen?