Genetic variations in UDP-glucuronosyltransferase 2B7 gene (UGT2B7) in a Korean population.

Glucuronidation by UDP-glucuronosyltransferase 2B7 (UGT2B7) has been identified as an important pathway for the elimination of its substrate drugs in humans. Alterations in UGT2B7 function or expression may influence individual variations in drug responses. In an effort to screen for UGT2B7 single nucleotide polymorphisms (SNPs) in Koreans, the UGT2B7 gene was directly sequenced in 50 normal subjects. A total of 19 genetic variations were found: seven in exons, eight in introns, and four in the 5'-untranslated region. The order of the frequency distribution of UGT2B7 variations was: -900A>G, -327G>A, -161C>T, 10539A>G, 10711G>C and 10806T>A (40%); 2099T>A, 2100C>T, 2283A>G and 2316A>G (39%); 12029T>A (37%); 10928C>A (33%); 10541G>A (28%); 10897insA (24%); 372A>G (13%) and 211G>T (12%), as well as other minor alleles with less than 10% frequency. Nineteen variations were used to characterize linkage disequilibrium (LD) structures at the UGT2B7 locus. Eight tagging SNPs in UGT2B7 were determined. Identification of UGT2B7 SNPs with LD and the tagging SNPs lays the foundation for investigating UGT2B7-related genotype/phenotype association studies for Koreans as well as other populations.