[Hyperhomocysteine, methylenetetrahydrofolate reductase gene, and other risk factors in ischemic stroke]

Yining Huang1, Yu lan Zhao Yl, Shunwei Li

  • 1Department of Neurology, Peking Union Medical College Hospital, Chinese Academy OF Medical Science, Beijing 100730, China.

Zhonghua Yi Xue Za Zhi
|April 16, 2002
PubMed

Insights

Elevated plasma homocysteine (Hcy) is linked to ischemic cerebrovascular diseases. While the methylenetetrahydrofolate reductase (MTHFR) gene C677T mutation can cause hyperhomocysteinemia, its direct association with stroke risk requires further investigation.

Area of Science:

  • Cardiovascular Research
  • Genetics
  • Neurology

Background:

  • Elevated plasma homocysteine (Hcy) is a potential risk factor for ischemic cerebrovascular diseases.
  • The methylenetetrahydrofolate reductase (MTHFR) gene polymorphism, specifically the C677T variant, is implicated in Hcy metabolism.

Purpose of the Study:

  • To examine the relationship between plasma Hcy levels and cerebral ischemic diseases.
  • To investigate the association between MTHFR gene polymorphism and cerebral ischemic diseases.

Main Methods:

  • Investigated plasma Hcy and MTHFR gene polymorphism in 49 ischemic cerebrovascular disease patients (acute cerebral infarction and transient ischemic attacks) and 55 controls.
  • Utilized brain CT, carotid duplex, transcranial Doppler, plasma vitamin B12, folic acid, and MTHFR genotype analysis.
  • Assessed the influence of age, liver/renal function, smoking, drinking, and vitamin levels on Hcy.

Main Results:

  • Plasma Hcy was significantly higher in cerebral infarction and transient ischemic attack groups compared to controls (P < 0.01).
  • Individuals with the MTHFR T/T genotype exhibited higher Hcy concentrations than those with C/C or CT genotypes.
  • Increased BUN and smoking were correlated with higher Hcy levels; plasma vitamin B12 and folic acid also showed significant correlations.

Conclusions:

  • Homozygosity for the MTHFR C677T mutation leads to hyperhomocysteinemia, which is associated with ischemic cerebrovascular disease.
  • Factors like renal function and smoking contribute to elevated plasma Hcy.
  • No direct correlation was found between MTHFR genotype and stroke risk in this study population.
Abstract

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