Novel single nucleotide polymorphisms of the dihydropyrimidinase gene (DPYS) in Japanese individuals.

Authors :: Akai F
Hosono H
Hirasawa N
Hiratsuka M
Source :: Drug metabolism and pharmacokinetics [Drug Metab Pharmacokinet] 2015 Feb; Vol. 30 (1), pp. 127-9. Date of Electronic Publication: 2014 Sep 28.
Publication Year :: 2015
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.<br /> (Copyright © 2014 The Japanese Society for the Study of Xenobiotics. Published by Elsevier Ltd. All rights reserved.)

Subjects :: Exons genetics
Fluorouracil metabolism
Genetics, Population
Healthy Volunteers
Humans
Introns genetics
Japan
Amidohydrolases genetics
Asian People genetics
Polymorphism, Single Nucleotide

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