A novel single nucleotide polymorphism of the human methylenetetrahydrofolate reductase gene in Japanese individuals.

Masahiro Hiratsuka, Mutsumi Kudo, Nanami Koseki, Shuta Ujiie, Mika Sugawara, Rina Suzuki, Takamitsu Sasaki, Yumiko Konno, Michinao Mizugaki

Research output: Contribution to journalArticlepeer-review

3 Citations (Scopus)

Abstract

The genetic polymorphisms of methylenetetrahydrofolate reductase (MTHFR) have been associated with increased toxicity of methotrexate (MTX), a folic acid antagonist that is widely used to treat cancer and immunosuppressive disorders such as rheumatoid arthritis. In this study, we analyzed all the exons and exon/intron junctions of the MTHFR gene from 200 Japanese individuals. We detected a novel single nucleotide polymorphism (SNP) 148C>T (Arg46Trp) in exon 1. The allele frequency of this polymorphism in the Japanese population appears to be extremely low (0.25%).

Original languageEnglish
Pages (from-to)387-390
Number of pages4
JournalDrug metabolism and pharmacokinetics
Volume20
Issue number5
DOIs
Publication statusPublished - 2005 Oct

ASJC Scopus subject areas

  • Pharmacology
  • Pharmaceutical Science
  • Pharmacology (medical)

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