Association of plasma homocysteine level and N5,N10-methylenetetrahydrofolate reductase gene polymorphism with cerebral infarction.
OBJECTIVE
To investigate the relationship of plasma homocysteine (Hcy) level to stroke and genetic factor to elevated plasma Hcy level.


METHODS
The plasma Hcy level was measured by capillary electrophoresis-ultraviolet detection and the gene polymorphism of N5,N10-methylenetetrahydrofolate reductase (MTHFR) was studied with PCR-RFLP assay in 43 patients with cortical cerebral infarction and 42 healthy control.


RESULTS
The plasma Hcy level of the patients (19.3 +/- 6.0 micromol/L) was markedly higher than that of the controls (13.7 +/- 5.4 micromol/L) (t = 4.16, P < 0.001). There are 3 genotypes, C/C, C/T and T/T, about base-variation of MTHFR gene at locus 677. The plasma Hcy level of the subjects with T/T genotype was higher than that of subjects with other genotypes. However, the frequencies of each genotype and allele were not significantly different between the patients and the controls.


CONCLUSIONS
The elevated plasma Hcy level is a risk factor for atherothrombotic cerebral infarction, and is related to the C-->T mutation at locus 677 of MTHFR gene.
Yingdong
Zhang
Z
Department of Neurology, Nanjing Brain Hospital, Nanjing Medical University, Nanjing 210029.
Zhigang
Zhu
Z
Yang
Liu
L
D000368:Aged; D002544:Cerebral Infarction / Q000097:blood / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006710:Homocysteine / Q000097:blood*; D006801:Humans; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D008875:Middle Aged; D017354:Point Mutation; D011110:Polymorphism, Genetic
D006710:Homocysteine; D042965:Methylenetetrahydrofolate Reductase (NADPH2)