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

Year 2013, Volume: 2013 Issue: 2, 197 - 203, 01.02.2013

Cristina Hotoleanu Adrian Trifa Radu Popp Daniela Fodor

https://doi.org/10.5152/balkanmedj.2013.7159

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

Abstract

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