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

Abstract

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 Başlık: İdiyopatik Venöz Tromboembolisi Olan Romanyalı Hastalarda Metilentetrahidrofolat Redüktaz Geninin Homozigot Polimorfizmlerinin Önemi Anahtar Kelimeler: Metilentetrahidrofolat redüktaz C677T polimorfizm, metilentetrahidrofolat redüktaz A1298C polimorfizm, venöz tromboemboli, trombofili Arka Plan: Metilentetrahidrofolat redüktaz (MTHFR) polimorfizmlerine karşı, muhtemel trombofilik faktörler olduklarından, yakın zamanda ilgi artışı olmuştur. Amaç: Romanyalı popülasyonda idiyopatik venöz tromboembolide (VTE) metilentetrahidrofolat redüktaz (MTHFR) C677T ve A1298C polimorfizmlerinin sıklığını ve VTE ile ilişkili riski değerlendirmeyi amaçladık. Çalışma Tasarımı: VTE tanısı almış 90 hasta ile yaş ve cinsiyet açısından eşleştirilmiş 75 kontrolü içeren transvers vaka-kontrol çalışması yaptık. Yöntemler: PCR-RFLP metotu kullanılarak MTHFR C677T ve A1298C polimorfizmleri saptandı. Bulgular: VTE'li hastaların %18.8'ine karşılık kontrollerin %6.6'sında mevcut olan homozigot MTHFR 677TT genotipi, VTE ile anlamlı şekilde ilişkiliydi (p= 0.021, OR= 3.26, %95CI (1.141-9.313)). VTE grubunda (%34.4) ve de kontrollerde (%37.3) en yüksek prevalansı gösteren heterozigot MTHFR A1298C genotipi VTE ile ilişkili değildi (p=0.7). Heterozigot MTHFR C677T (Sıklığı VTE'de %32.2 ve kontrollerde %37.3, p=0.492) ve homozigot MTHFR A1298C genotipi (Sıklığı VTE'de %1.1 ve kontrollerde %2.6, p=0.456) için de ilişki bulunmadı. Sonuç: MTHFR polimorfizmleri arasında sadece MTHFR 677TT homozigotluğu VTE için bir risk faktörü olarak kabul edilebilir; MTHFR A1298C polimorfizmi VTE riskinde anlamlı artış ile ilişkili değildir.

Keywords

• Methylenetetrahydrofolate reductase C677T polymorphism, methylenetetrahydrofolate reductase A1298C polymorphism, venous thromboembolism, thrombophilia

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

Öz

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