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

Drug Metabolism and Pharmacokinetics
Fumika AkaiMasahiro Hiratsuka

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.

References

Jan 1, 1991·Journal of Inherited Metabolic Disease·M DuranR Berger
Aug 1, 1996·The Journal of Clinical Investigation·X WeiP Fernandez-Salguero
Mar 27, 2007·Molecular Genetics and Metabolism·André B P van KuilenburgAnnet M Bosch
Apr 7, 2010·Biochimica Et Biophysica Acta·André B P van KuilenburgRaoul C M Hennekam
Jun 5, 2013·Hong Kong Medical Journal = Xianggang Yi Xue Za Zhi·C W YeungC W Lam

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Citations

Jun 24, 2017·Biochemical Pharmacology·Eiji HishinumaMasahiro Hiratsuka
Jan 22, 2020·Human Molecular Genetics·Abhishek NagClaire J Steves

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