title: A common mutation in methylenetetrahydrofolate reductase gene among the Japanese population.
abstract: Hyperhomocysteinemia has been reported as an independent risk factor for atherosclerotic cerebrovascular and coronary heart diseases. 5, 10-Methylenetetrahydrofolate reductase (MTHFR) is one of the enzymes responsible for hyperhomocysteinemia. The C to T transition of the MTHFR gene at nucleotide position 677 results in decreasing the enzymatic activity and increasing the plasma homocysteine level. We studied the distribution of the MTHFR gene mutation among the Japanese population. The subjects were 129 Japanese males (aged 40-59 years). The allele frequency of the mutation was 0.38. The frequencies of the three genotypes were as follows: +/+, 11%; +/-, 54%; -/-, 35% (+ and-indicate the presence and absence of the mutation, respectively). We also studied the frequency of the MTHFR gene mutation in the middle-aged Japanese males with hypertension to investigate the possibility that this mutation is related to essential hypertension. The normotensive and hypertensive subjects were identical in the distribution of the mutated allele and the frequencies of the three genotypes. Furthermore, the prevalence of hypertension in each genotype group was same, although the mean diastolic pressure of the group with homozygous mutation was significantly higher than that of other groups (p < 0.05). Therefore, we concluded that there was no significant relationship between the MTHFR gene mutation and hypertensive subjects studied in this study.
authors.affiliation: Department of Public Health, Kobe University School of Medicine, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Nishio
authors.forename: M J
authors.initials: MJ
authors.lastname: Lee
authors.forename: M
authors.initials: M
authors.lastname: Fujii
authors.forename: K
authors.initials: K
authors.lastname: Kario
authors.forename: K
authors.initials: K
authors.lastname: Kayaba
authors.forename: K
authors.initials: K
authors.lastname: Shimada
authors.forename: M
authors.initials: M
authors.lastname: Matsuo
authors.forename: K
authors.initials: K
authors.lastname: Sumino
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D005828:Genetics, Population; D006801:Humans; D006973:Hypertension / Q000235:genetics; D007564:Japan; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D000587:Oxidoreductases Acting on CH-NH Group Donors / Q000235:genetics*
chemical_list: D000587:Oxidoreductases Acting on CH-NH Group Donors; D042965:Methylenetetrahydrofolate Reductase (NADPH2)