The Importance of Homozygous Polymorphisms of Methylenetetrahydrofolate Reductase Gene in Romanian Patients with Idiopathic Venous Thromboembolism

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. Turkish Baslik: Idiyopatik Venoz Tromboembolisi Olan Romanyali Hastalarda Metilentetrahidrofolat Reduktaz Geninin Homozigot Polimorfizmlerinin Onemi Anahtar Kelimeler: Metilentetrahidrofolat reduktaz C677T polimorfizm, metilentetrahidrofolat reduktaz A1298C polimorfizm, venoz tromboemboli, trombofili Arka Plan: Metilentetrahidrofolat reduktaz (MTHFR) polimorfizmlerine karsi, muhtemel trombofilik faktorler olduklarindan, yakin zamanda ilgi artisi olmustur. Amac: Romanyali populasyonda idiyopatik venoz tromboembolide (VTE) metilentetrahidrofolat reduktaz (MTHFR) C677T ve A1298C polimorfizmlerinin sikligini ve VTE ile iliskili riski degerlendirmeyi amacladik. Calisma Tasarimi: VTE tanisi almis 90 hasta ile yas ve cinsiyet acisindan eslestirilmis 75 kontrolu iceren transvers vaka-kontrol calismasi yaptik. Yontemler: PCR-RFLP metotu kullanilarak MTHFR C677T ve A1298C polimorfizmleri saptandi. Bulgular: VTE'li hastalarin %18.8'ine karsilik kontrollerin %6.6'sinda mevcut olan homozigot MTHFR 677TT genotipi, VTE ile anlamli sekilde iliskiliydi (p= 0.021, OR= 3.26, %95CI (1.141-9.313)). VTE grubunda (%34.4) ve de kontrollerde (%37.3) en yuksek prevalansi gosteren heterozigot MTHFR A1298C genotipi VTE ile iliskili degildi (p=0.7). Heterozigot MTHFR C677T (Sikligi VTE'de %32.2 ve kontrollerde %37.3, p=0.492) ve homozigot MTHFR A1298C genotipi (Sikligi VTE'de %1.1 ve kontrollerde %2.6, p=0.456) icin de iliski bulunmadi. Sonuc: MTHFR polimorfizmleri arasinda sadece MTHFR 677TT homozigotlugu VTE icin bir risk faktoru olarak kabul edilebilir; MTHFR A1298C polimorfizmi VTE riskinde anlamli artis ile iliskili degildir.