A novel single nucleotide polymorphism of the human methylenetetrahydrofolate reductase gene in Japanese individuals.
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%).
Hiratsuka
Masahiro
M
Department of Clinical Pharmaceutics, Tohoku Pharmaceutical University, Komatsushima, Sendai, Japan.
Kudo
Mutsumi
M
Koseki
Nanami
N
Ujiie
Shuta
S
Sugawara
Mika
M
Suzuki
Rina
R
Sasaki
Takamitsu
T
Konno
Yumiko
Y
Mizugaki
Michinao
M
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
D017931:DNA Primers; D042965:Methylenetetrahydrofolate Reductase (NADPH2)