Methylenetetrahydrofolate Reductase C677T Polymorphism And Relation Ship With Coronary Artery Disease

  • MM Ibrahiem
  • OA Alaziz Gaber
  • SH Mohammed
  • EM Salem


Methylenetetrahydrofolate reductase (MTHFR) is involved in the
reduction of 5, 10-methylenetetrahydrofolate to 5-
methyltetrahydrofolate. A 677 C/T single nucleotide polymorphism
(SNP) localized in the MTHFR gene was associated with both thermo
ability and reduced activity of the enzyme and is associated with
increased homocysteine levels. The aim of this study was to establish
the genetic frequency of MTHFR SNP and whether this MTHFR SNP
may affect a homocysteine level and if it is considered as a risk factor
for Coronary artery disease (CAD).
This study included 65 subjects (40 cases & 25 controls). For all
participants in this study total lipids profile, Apo A1, homoysteine,
blood glucose, folic acid and genetic polymorphism of MTHFR were
done. The percentage distribution of the different genotypes in the
study population (all subjects) showed that the CC genotype was the
most prevalent one followed by CT and then TT (45 %, 35 %, 20 %)
respectively. There was no significant association of T Allele in CAD
group when compared to control group although plasma homocysteine
level was higher in the CAD compared to the control. It seemed that
the high levels of homocysteine in CAD are not only dependent on
MTHFR activity but also on many factors such as age, sex, and other
vitamins which were not measured in this study such as B12 and B6 .

Key Words: Homocysteine, Folic acid, Lipid profile, Apo A1, MTHFR, Gene polymorphism, Coronary artery disease


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