Genetic Polymorphisms of UGT1A and their Association with Clinical Factors in Healthy Koreans

摘要: Glucuronidation by the uridine diphosphateglucuronosy-ltransferase 1A enzymes (UGT1As) is a major pathway for elimination of particular drugs and endogenous substances, such as bilirubin. We examined relation eight single nucleotide polymorphisms (SNPs) haplotypes UGT1A gene with their clinical factors. For association analysis, we genotyped variants direct sequencing analysis polymerase chain reaction (PCR) in 218 healthy Koreans. The frequency UGT1A1 polymorphisms, -3279T>G, -3156G>A, -53 $(TA)_{6>7}$, 211G>A, 686C>A, was 0.26, 0.12, 0.08, 0.15, 0.01, respectively. -118 $(T)_{9>10}$ UGT1A9 0.62, which significantly higher than that Caucasians (0.39). Neither -2152C>T nor -275T>A polymorphism observed Koreans or other Asians comparison Caucasians. -3156G>A $(TA)_{6>7}$ were associated platelet count total bilirubin level (p=0.01, p=0.01, respectively). Additionally, positively correlated occurrence UGT1A9-118 rare variant. Common encompassing six (p=0.01). Taken together, suggest determination genotypes clinically useful predicting efficacy serious toxicities requiring glucuronidation.