Genetic Variations in UDP-glucuronosyltransferase 2B15 in a Korean Population

Summary:UDP-glucuronosyltransferase 2B15 (UGT2B15) is involved in the glucoronidation of steroid hormones as well as many drugs. Genetic variations in UGT2B15 have been shown to affect enzyme function and suggested to have a role in human diseases, such as breast and prostate cancers. In the present study, we sequenced genomic DNA from 50 normal Korean subjects to identify single nucleotide polymorphisms (SNPs) in UGT2B15. A total of thirteen genetic variations were found: two in exons, two in introns, seven in the 5'-untranslated region (UTR), and two in the 3'-UTR. The order and frequency distribution of UGT2B15 variations was: –1139 T>C (rs9994887), –508G>A (rs1120265), –506 T>A (rs1580083), 253 T>G (rs1902023) (42%), 23687A>T (rs4148271) (31%), 2635A>T (rs2045100) (28%), –497C>T (14%), –378C>T (14%), 23669C>T (12%), and 23476A>C (rs4148269) (11%), with other minor alleles with a frequency of < 10%. Thirteen variations were used to characterize linkage disequilibrium structures at the UGT2B15 locus. Five tag SNPs were identified, and the observed allelic frequencies were compared to those of other ethnic populations. This information describing genetic polymorphisms in UGT2B15 could serve as an important resource for studying individual variations in drug and hormone metabolism in Korean as well as other ethnic populations.