Vasc Spec Int.  2015 Dec;31(4):109-114. 10.5758/vsi.2015.31.4.109.

Association of Methylenetetrahydrofolate Reductase C677T Polymorphism with Hyperhomocysteinemia and Deep Vein Thrombosis in the Iranian Population

• Ghaznavi H
• Soheili Z
• Samiei S
• Soltanpour MS

• KMID: 2382137
• DOI: http://doi.org/10.5758/vsi.2015.31.4.109

Abstract

PURPOSE
Deep venous thrombosis (DVT) is a common but elusive condition characterized by a high morbidity and mortality rate. The aim of the present study was to investigate the correlation between methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism with plasma total homocysteine (tHcy) levels and DVT risk in an Iranian population.
MATERIALS AND METHODS
Our study population consisted of 67 patients with a diagnosis of DVT and 67 healthy subjects as controls. Genotyping of MTHFR C677T polymorphism was performed by the polymerase chain reaction technique combined with restriction enzyme fragment length polymorphism (PCR-RFLP) and measurement of tHcy levels was done by enzyme immunoassay method.
RESULTS
Plasma tHcy levels were significantly higher in DVT patients than controls (18.09+/-7.6 vs. 10.5+/-4.3, P=0.001). Also, plasma tHcy levels were significantly higher in MTHFR 677TT genotypes compared to 677CC genotypes in both DVT patients (P=0.016) and controls (P=0.03). Neither heterozygote nor homozygote genotypes of MTHFR C677T polymorphism was significantly correlated with DVT (P>0.05). The distribution of MTHFR C677T genotypes was similar between men and women in both DVT patients and controls (P>0.05). Moreover, the frequency of mutant 677T allele did not differ significantly between the two groups (28.3% vs. 21.6%, P=0.15).
CONCLUSION
Based on this study, we propose that hyperhomocysteinemia but not homozygosity for MTHFR C677T polymorphism is a significant risk factor for DVT in the Iranian population. Also, MTHFR 677TT genotype is a determinant of elevated plasma tHcy levels.

Keyword

Homocysteine; Deep venous thrombosis; Methylenetetrahydrofolate reductase; Genetic polymorphism

MeSH Terms

Alleles
Diagnosis
Female
Genotype
Heterozygote
Homocysteine
Homozygote
Humans
Hyperhomocysteinemia*
Immunoenzyme Techniques
Male
Methylenetetrahydrofolate Reductase (NADPH2)*
Mortality
Plasma
Polymerase Chain Reaction
Polymorphism, Genetic
Risk Factors
Venous Thrombosis*
Homocysteine
Methylenetetrahydrofolate Reductase (NADPH2)