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Hyperhomocysteinemia and methylenetetrahydrofolate reductase C677T polymorphism in cerebral veno-sinus thrombosis

Venkata Pinnelli Bharatkumar1, Dindagur Nagaraja, Rita Christopher

  • 11Department of Neurochemistry, National Institute of Mental Health and Neuro Sciences, Bangalore, India.

Clinical and Applied Thrombosis/Hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis
|November 23, 2012
PubMed

Insights

Elevated homocysteine levels are a significant risk factor for cerebral veno-sinus thrombosis (CVT) in Indian patients. While the MTHFR C677T gene variant influences homocysteine, it is not directly linked to CVT risk.

Area of Science:

  • Neurology
  • Genetics
  • Clinical Medicine

Background:

  • Cerebral Veno-Sinus Thrombosis (CVT) is a rare but serious neurological condition.
  • Limited data exists on hyperhomocysteinemia as a risk factor for CVT in the Indian population.

Purpose of the Study:

  • To investigate the association between plasma homocysteine (Hcy) levels, methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism, and aseptic CVT in Indians.
  • To determine if hyperhomocysteinemia and MTHFR C677T polymorphism are independent risk factors for CVT.

Main Methods:

  • Case-control study involving 185 aseptic CVT patients and 248 healthy controls.
  • Measurement of fasting plasma homocysteine (Hcy) levels.
  • Genotyping for the MTHFR C677T polymorphism.

Main Results:

  • Fasting Hcy levels were significantly higher in CVT patients compared to controls (20.25 ± 5.97 vs 9.81 ± 5.19 μmol/L, P < .001).
  • Higher Hcy levels were associated with a 4.54-fold increased risk of CVT, with a higher risk observed in puerperal CVT.
  • Plasma Hcy levels were higher in individuals with the MTHFR 677TT genotype, but this genotype was not significantly associated with increased CVT risk.

Conclusions:

  • Hyperhomocysteinemia is identified as a significant risk marker for aseptic CVT in Indian patients.
  • The MTHFR C677T polymorphism is a determinant of plasma Hcy levels but does not appear to be an independent risk factor for CVT in this population.

Keywords:
MTHFR C677Tcerebral venous thrombosishomocysteine

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