| Literature DB >> 25760541 |
Fumika Akai1, Hiroki Hosono1, Noriyasu Hirasawa1, Masahiro Hiratsuka2.
Abstract
Genetic polymorphisms of the dihydropyrimidinase gene (DPYS) may be associated with the development of severe toxicity to 5-fluorouracil, a drug used to treat solid tumors. In this study, we analyzed the nine coding exons and exon-intron junctions of DPYS in 183 Japanese individuals. We detected two novel single nucleotide polymorphisms (SNPs)-285C > T (Thr95Thr) and 349T > C (Trp117Arg)-in exon 2. The nonsynonymous SNP 349T > C was analyzed in 208 Japanese individuals. Although the allele frequency of the SNP in the Japanese population was found to be extremely low (0.13%), the enzymatic activity of the variant protein might be reduced compared with that of the wild-type protein.Entities:
Keywords: DPYS; Dihydropyrimidinase; Genetic polymorphism; Japanese; SNP
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Year: 2014 PMID： 25760541 DOI： 10.1016/j.dmpk.2014.09.005
Source DB: PubMed Journal: Drug Metab Pharmacokinet ISSN： 1347-4367 Impact factor: 3.614