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

研究成果: Article › 査読

3 被引用数 (Scopus)

抄録

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%).

本文言語	English
ページ（範囲）	387-390
ページ数	4
ジャーナル	Drug metabolism and pharmacokinetics
巻	20
号	5
DOI	https://doi.org/10.2133/dmpk.20.387
出版ステータス	Published - 2005 10月
外部発表	はい

ASJC Scopus subject areas

薬理学
薬科学
薬理学（医学）

UN SDG

この成果は、次の持続可能な開発目標に貢献しています

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10.2133/dmpk.20.387

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引用スタイル

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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.",

year = "2005",

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doi = "10.2133/dmpk.20.387",

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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

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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.

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ASJC Scopus subject areas

UN SDG

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