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

SNP Communication

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

著者情報

キーワード: methylenetetrahydrofolate reductase, MTHFR, genetic polymorphism, pharmacogenetics, Japanese

ジャーナルフリー

2005 年 20 巻 5 号 p. 387-390

DOI https://doi.org/10.2133/dmpk.20.387

詳細

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%).

責任著者(Corresponding author)

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