ISSN : 2146-3123
E-ISSN : 2146-3131

The Importance of Homozygous Polymorphisms of Methylenetetrahydrofolate Reductase Gene in Romanian Patients with Idiopathic Venous Thromboembolism
Cristina Hotoleanu 1, Daniela Fodor 1, Adrian Trifa 2, Radu Popp 2
1Medicala II Department, University of Medicine and Pharmacy Iuliu Hatieganu, Cluj-Napoca, Romania
2Genetics Department, University of Medicine and Pharmacy Iuliu Hatieganu, Cluj-Napoca, Romania
DOI : 10.5152/balkanmedj.2013.7159
Pages : 197-203


Background: Methylenetetrahydrofolate reductase (MTHFR) polymorphisms have recently raised the interest as a possible thrombophilic factors.

Aims: We aimed to assess the frequency of the methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphisms in idiopathic venous thromboembolism (VTE) in a Romanian population and the associated risk of VTE.

Study Design: We performed a case-control transversal study including 90 patients diagnosed with VTE and 75 sex- and age-matched controls. 

Methods: MTHFR C677T and A1298C polymorphisms were detected using PCR-RFLP method.

Results: The homozygous MTHFR 677TT genotype, present in 18.8% of patients with VTE versus 6.6% of controls, was significantly associated with VTE (p= 0.021, OR= 3.26, 95%CI (1.141-9.313)). The heterozygous MTHFR A1298C genotype, presenting the highest prevalence in the VTE group (34.4%) as well as in controls (37.3%), was not associated with VTE (p=0.7). No associations were found for heterozygous MTHFR C677T (with a frequency of 32.2% in VTE and 37.3% in controls, p=0.492), respective homozygous MTHFR A1298C genotype (with a frequency of 1.1% in VTE and 2.6% in controls, p=0.456).

Conclusion: Among MTHFR polymorphisms, only homozygosity for MTHFR 677TT may be considered a risk factor for VTE; the MTHFR A1298C polymorphism is not significantly associated with an increased risk of VTE.

Keywords : Methylenetetrahydrofolate reductase C677T polymorphism, methylenetetrahydrofolate reductase A1298C polymorphism, venous thromboembolism, thrombophilia
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