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

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
Externally published	Yes

ASJC Scopus subject areas

Pharmacology
Pharmaceutical Science
Pharmacology (medical)

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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title = "A novel single nucleotide polymorphism of the human methylenetetrahydrofolate reductase gene in Japanese individuals.",

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%).",

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

note = "Funding Information: Acknowledgments: This work was supported in part by High-Tech Research Center Program from the Ministry of Education, Culture, Sports, Science, and Technology of Japan.",

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doi = "10.2133/dmpk.20.387",

language = "English",

volume = "20",

pages = "387--390",

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T1 - A novel single nucleotide polymorphism of the human methylenetetrahydrofolate reductase gene in Japanese individuals.

AU - Hiratsuka, Masahiro

AU - Kudo, Mutsumi

AU - Koseki, Nanami

AU - Ujiie, Shuta

AU - Sugawara, Mika

AU - Suzuki, Rina

AU - Sasaki, Takamitsu

AU - Konno, Yumiko

AU - Mizugaki, Michinao

N1 - Funding Information: Acknowledgments: This work was supported in part by High-Tech Research Center Program from the Ministry of Education, Culture, Sports, Science, and Technology of Japan.

PY - 2005/10

Y1 - 2005/10

N2 - 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%).

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

Abstract

ASJC Scopus subject areas

UN SDGs

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