The Associations of MTHFR C677T Mutation and Plasma Homocysteine Level with Carotid Intima-Media Thickness

Abstract

Background and Objective: Mild hyperhomocysteinemia has emerged as a risk factor for atherosclerosis. The genetic data of 5,10 methlenetetrahydrofolate reductase (MTHFR), a regulatory enzyme of homocysteine (Hcy) metabolism, among South-East Asian is conflicting and not often especially of cardiocerebrovascular disease subjects. Methods: This study measured carotid IMT, fasting plasma Hcy and analyzed the MTHFR C677T genotype in cross sectional study of 40 hypertensive Malayan race > 45 yrs of age with acute ischemic stroke in Palembang Indonesia. Biochemical data were obtained within the first 48 hours of stroke onset. Subjects with previous history of CVD, malignancy, renal failure and DM were excluded. Results: MTHFR 677T/T mutation was observed in 3/40 (7.5%), heterozygocity was 25.0% and T allele was 0.20. Mean plasma Hcy level was found as 8.5 ± 4.16 μmol/L and it was associated to MTHFR C677T genotype. Plasma Hcy level was significantly higher among subjects with TT genotype compared to CC (mean [±SD] 15.58 ± 2.70 μmol/L vs 7.72 ± 3.80 μmol/L, p = 0.002) and CT genotype (15.58 ± 2.70 μmol/L vs 8.48 ± 3.62 μmol/L, p = 0.01), but there was no significantly association between CC and CT genotype (p = 0.58). after adjusting for age and sex, there was no association between MTHFR C677T genotype or plasma Hcy level and increased of IMT or presence of carotid plaque (p > 0.05). Conclusions: There was significantly association between the MTHFR C677T mutation and plasma homocysteine level. There was no association between both and carotid IMT or plaque.