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

doi:10.2133/dmpk.20.387

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

PHA - Pharmacy

Research output: Contribution to journal › Article › peer-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 language	English
Pages (from-to)	387-390
Number of pages	4
Journal	Drug metabolism and pharmacokinetics
Volume	20
Issue number	5
DOIs	https://doi.org/10.2133/dmpk.20.387
Publication status	Published - 2005 Oct

ASJC Scopus subject areas

Pharmacology
Pharmaceutical Science
Pharmacology (medical)

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A novel single nucleotide polymorphism of the human methylenetetrahydrofolate reductase gene in Japanese individuals. / Hiratsuka, Masahiro; Kudo, Mutsumi; Koseki, Nanami; Ujiie, Shuta; Sugawara, Mika; Suzuki, Rina; Sasaki, Takamitsu; Konno, Yumiko; Mizugaki, Michinao.

In: Drug metabolism and pharmacokinetics, Vol. 20, No. 5, 10.2005, p. 387-390.

Research output: Contribution to journal › Article › peer-review

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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%).",

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AU - Sugawara, Mika

AU - Suzuki, Rina

AU - Sasaki, Takamitsu

AU - Konno, Yumiko

AU - Mizugaki, Michinao

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