Example sentences for: mthfr
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The most important of these are the aldose reductase gene ( ALR2 ) [ 17], the insertion/deletion (I/D) polymorphism of the angiotensin I - converting enzyme ( ACE ) gene [ 18, 19], C825T polymorphism of the gene encoding the beta-3 subunit of geterotrimeric G-proteins ( GNB3 ) [ 20, 21, 22], and C677T polymorphism of the methylenetetrahydrofolate reductase gene ( MTHFR ) [ 23].
However, despite association of the factor V G1691A (factor V Leiden) and prothrombin (factor II) G20210A mutations with venous thromboembolism and myocardial infarction [ 10 11 ] , neither mutation is strongly associated with risk of stroke [ 12 13 14 15 16 17 18 ] . Although a study of British adults found elevated levels of serum homocysteine to be associated with an increased risk of stroke [ 19 ] , a case-control study of a common polymorphism (methylenetetrahydrofolate reductase [MTHFR] T677C) that results in increased serum homocysteine concentrations found no difference between patients with stroke and controls in either genotype or allele frequency [ 20 ] . Because antiplatelet agents with different mechanisms of action can bring about significant reductions in stroke risk, several platelet receptor genes have been tested as candidate stroke susceptibility genes [ 21 22 ] . To date, however, no compelling evidence for an association between any platelet receptor gene polymorphism and risk of stroke has been found.
Additionally, the effect of the thermolabile MTHFR mutation (677 C→T) on plasma homocysteine levels in heterozygotes has been shown to depend upon the availability of folate, with higher levels seen in folate deficient individuals.
Thus, we propose to study polymorphisms in genes involved in a number of systems and pathways related to stroke risk [ 5 ] : genes associated with coagulation factors and thrombophilia (Factor V, Prothrombin, Fibrinogen, Factor VII, Factor XIII, PAI-1, Thrombomodulin [TM], and MTHFR), as well as polymorphisms in genes that are involved in vascular reactivity (ACE), platelet activation/function (GpIIb/IIIa, GpIb IX-V, and GpIa/IIa), endothelial cell function (MTHFR, TM, VCAM-1, E-Selectin, L-Selectin, P-Selectin, and ICAM-1), inflammation (TNFα), lipid metabolism (Apo A1 and Apo E), and cell adhesion (VCAM-1, E-Selectin, L-Selectin, P-Selectin, and ICAM-1).
It is possible that increased folate requirements due to chronic hemolysis in sickle cell disease would lead to a relative deficiency state, which, in the presence of MTHFR mutation, would result in higher homocysteine levels as an additional risk factor for vasculopathy.
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