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

Abstract

There is limited data on the role of hyperhomocysteinemia as a risk factor for cerebral veno-sinus thrombosis (CVT) in Indians. We examined the association between plasma homocysteine (Hcy), methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism, and CVT in 185 patients with aseptic CVT (puerperal 80 and nonpuerperal 105) and 248 healthy controls (puerperal 67 and nonpuerperal 181). Fasting Hcy was higher in patients compared to controls (20.25 ± 5.97 vs 9.81 ± 5.19 μmol/L, P < .001) and associated with 4.54-fold (95% confidence interval [CI]: 2.74-7.53) increase in risk of CVT. Risk was higher in puerperal (odds ratio [OR]: 8.7, 95% CI: 2.73-26.91) compared to nonpuerperal CVT (OR: 3.82, 95% CI: 2.09-6.96). Plasma Hcy was higher in MTHFR 677TT compared to 677CT and 677CC genotypes (34.44 ± 32.8 vs 25.81 ± 33.3 vs 18.50 ± 23.7 μmol/L, respectively, P < .001), but the risk associated with MTHFR 677TT was insignificant (OR: 1.91, 95% CI: 0.53-7.06). We conclude that hyperhomocysteinemia is a risk marker for Indian patients with aseptic CVT. MTHFR 677TT genotype is not linked with CVT but is a determinant of plasma Hcy.

Keywords: MTHFR C677T; cerebral venous thrombosis; homocysteine.