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

Author information

Masahiro HIRATSUKA
Department of Clinical Pharmaceutics, Tohoku Pharmaceutical University
Mutsumi KUDO
Department of Clinical Pharmaceutics, Tohoku Pharmaceutical University
Nanami KOSEKI
Department of Clinical Pharmaceutics, Tohoku Pharmaceutical University
Shuta UJIIE
Department of Clinical Pharmaceutics, Tohoku Pharmaceutical University
Mika SUGAWARA
Department of Clinical Pharmaceutics, Tohoku Pharmaceutical University
Rina SUZUKI
Department of Clinical Pharmaceutics, Tohoku Pharmaceutical University
Takamitsu SASAKI
Department of Clinical Pharmaceutics, Tohoku Pharmaceutical University
Yumiko KONNO
Department of Clinical Pharmaceutics, Tohoku Pharmaceutical University
Michinao MIZUGAKI
Department of Clinical Pharmaceutics, Tohoku Pharmaceutical University

Keywords: methylenetetrahydrofolate reductase, MTHFR, genetic polymorphism, pharmacogenetics, Japanese

JOURNAL FREE ACCESS

2005 Volume 20 Issue 5 Pages 387-390

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

Details

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%).

Corresponding author

Register with J-STAGE for free!