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%).
authors.affiliation: Department of Clinical Pharmaceutics, Tohoku Pharmaceutical University, Komatsushima, Sendai, Japan.
authors.forename: Masahiro
authors.initials: M
authors.lastname: Hiratsuka
authors.forename: Mutsumi
authors.initials: M
authors.lastname: Kudo
authors.forename: Nanami
authors.initials: N
authors.lastname: Koseki
authors.forename: Shuta
authors.initials: S
authors.lastname: Ujiie
authors.forename: Mika
authors.initials: M
authors.lastname: Sugawara
authors.forename: Rina
authors.initials: R
authors.lastname: Suzuki
authors.forename: Takamitsu
authors.initials: T
authors.lastname: Sasaki
authors.forename: Yumiko
authors.initials: Y
authors.lastname: Konno
authors.forename: Michinao
authors.initials: M
authors.lastname: Mizugaki
mesh_terms: D001483:Base Sequence; D017931:DNA Primers; D005091:Exons; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D007438:Introns; D007564:Japan; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide
chemical_list: D017931:DNA Primers; D042965:Methylenetetrahydrofolate Reductase (NADPH2)