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

Drug Metab Pharmacokinet. 2005 Oct;20(5):387-90. doi: 10.2133/dmpk.20.387.

Authors

Masahiro Hiratsuka¹, Mutsumi Kudo, Nanami Koseki, Shuta Ujiie, Mika Sugawara, Rina Suzuki, Takamitsu Sasaki, Yumiko Konno, Michinao Mizugaki

Affiliation

¹ Department of Clinical Pharmaceutics, Tohoku Pharmaceutical University, Komatsushima, Sendai, Japan.

PMID: 16272757
DOI: 10.2133/dmpk.20.387

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%).

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Base Sequence
DNA Primers
Exons
Gene Frequency
Genetic Predisposition to Disease
Humans
Introns
Japan
Methylenetetrahydrofolate Reductase (NADPH2) / genetics*
Polymorphism, Single Nucleotide*

Substances

DNA Primers
Methylenetetrahydrofolate Reductase (NADPH2)