Vasc Spec Int.  2014 Dec;30(4):113-119. 10.5758/vsi.2014.30.4.113.

Clinical Implications of Methylenetetrahydrofolate Reductase Mutations and Plasma Homocysteine Levels in Patients with Thromboembolic Occlusion

• Park WC
• Chang JH

• KMID: 2319495
• DOI: http://doi.org/10.5758/vsi.2014.30.4.113

Abstract

PURPOSE
Hyperhomocysteinemia has been identified as an independent risk factor in arterial and venous thrombosis. Mutations in genes encoding methylenetetrahydrofolate reductase (MTHFR), involved in the metabolism of homocysteine, may account for reduced enzyme activity and elevated plasma homocysteine levels. In this study, we investigated the interrelation of MTHFR C677T genotype and level of homocysteine in patients with arterial and venous thrombosis.
MATERIALS AND METHODS
We retrospectively reviewed the medical records of 146 patients who were diagnosed as having arterial and venous thrombosis. We excluded patients diagnosed with atrial fibrillation. We examined routinely the plasma concentration of total homocysteine level and MTHFR C677T polymorphism for evaluation of thrombotic tendency in all patients. Screening processes of MTHFR C677T polymorphism were performed by real-time polymerase chain reaction.
RESULTS
Investigated groups consisted of thrombotic arterial occlusion in 48 patients and venous occlusion in 63 patients. The distribution of the three genotypes was as follows: homozygous normal (CC) genotype in 29 (26.1%), heterozygous (CT) genotype in 57 (51.4%), and homozygous mutant (TT) genotype in 25 (22.5%) patients. There were no significant differences among individuals between each genotype group for baseline characteristics. Plasma concentration of homocysteine in patients with the TT genotype was significantly increased compared to the CC genotype (P<0.05).
CONCLUSION
We observed a significant interaction between TT genotypes and homocysteine levels in our results. The results might reflect the complex interaction between candidate genes and external factors responsible for thrombosis.

Keyword

Methylenetetrahydrofolate reductase; Mutation; Hyperhomocysteinemia

MeSH Terms

Atrial Fibrillation
Genotype
Homocysteine*
Humans
Hyperhomocysteinemia
Mass Screening
Medical Records
Metabolism
Methylenetetrahydrofolate Reductase (NADPH2)*
Plasma*
Real-Time Polymerase Chain Reaction
Retrospective Studies
Risk Factors
Thrombosis
Venous Thrombosis
Homocysteine
Methylenetetrahydrofolate Reductase (NADPH2)