title: Methylenetetrahydrofolate reductase gene polymorphisms in patients with cerebral hemorrhage.
abstract: Elevated plasma total homocysteine (HCY) level is a risk factor for coronary heart disease and ischemic stroke. We investigated relationships between polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) gene, and plasma levels of HCY and folate in patients of Mongolian races who suffered from cerebral ischemia (CI, n = 42) or cerebral hemorrhage (CH, n = 20) and in the 24 age-matched controls. The incidences of both homozygous and heterozygous MTHFR gene mutations in CI (26 and 43%) and in CH (25 and 60%) were significantly higher than those in the controls (8 and 25%). Homozygous MTHFR gene mutation was associated with reduced plasma folate levels, but not with increased plasma HCY levels. Among the subjects with homozygous MTHFR gene mutation, plasma folate levels in CH was significantly lower than those in CI and controls. MTHFR gene mutation in CH was found to be as common as that in CI and was associated with reduced plasma folate levels in the both. In homozygous MTHFR gene mutation, the plasma folate level was profoundly reduced in CH as compared with CI and controls, suggesting that subjects with low plasma folate levels have a predisposition to intracerebral bleeding.
authors.affiliation: Department of Neurosurgery, Hamamatsu University School of Medicine, 1-20-1 Handayama, Hamamatsu, 431-3192, Japan.
authors.forename: Xin
authors.initials: X
authors.lastname: Fang
authors.forename: Hiroki
authors.initials: H
authors.lastname: Namba
authors.forename: Soichi
authors.initials: S
authors.lastname: Akamine
authors.forename: Kenji
authors.initials: K
authors.lastname: Sugiyama
mesh_terms: D000368:Aged; D044466:Asian People; D016022:Case-Control Studies; D002543:Cerebral Hemorrhage / Q000235:genetics*; D016009:Chi-Square Distribution; D004252:DNA Mutational Analysis; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000097:blood / Q000235:genetics*; D008875:Middle Aged; D011110:Polymorphism, Genetic; D011624:Pteroylpolyglutamic Acids / Q000097:blood; D012333:RNA, Messenger / Q000096:biosynthesis; D020133:Reverse Transcriptase Polymerase Chain Reaction / Q000379:methods
chemical_list: D011624:Pteroylpolyglutamic Acids; D012333:RNA, Messenger; D042965:Methylenetetrahydrofolate Reductase (NADPH2)