Deniz TORUN, Yusuf TUNCA, Halide KAYA, Salih KOZAN, Mutlu KARKUCAK, Hatice SALİFOĞLU

Venöz tromboembolili hastalarda anjiyotensin dönüştürücü enzim I/D ve plazminojen aktivatör inhibitör-1 4G/5G gen polimorfizmlerinin araştırılması

Giriş: Derin ven trombozu ve pulmoner emboli, venöz tromboembolizm olarak da bilinen oldukça yaygın görülen multifaktöriyel hastalıklardır. Genetik faktörlerin popülasyonlar arası farklılık göstermesi nedeniyle venöz tromboemboli ile ilişkili birçok polimorfizm çalışması yapılmıştır. Yapılan bu çalışmalar sonucunda, hastalık gelişimi ile polimorfizmler arasındaki ilişki net olarak bilinmemektedir. Çalışmamızda venöz tromboemboli ile ilişkili genetik faktörler arasında yer alan anjiyo- tensin dönüştürücü enzim insersiyon/delesyon (ACE I/D) ve plazminojen aktivatör inhibitör-1 4G/5G (PAI-1 4G/5G) poli- morfizmlerinin hastalık gelişimindeki rolünü araştırmayı amaçladık. Materyal ve Metod: Çalışmamıza, 80 venöz tromboemboli hastası ve 79 kontrol birey dahil edildi. ACE I/D polimorfizminin araştırılmasında klasik polimeraz zincir reaksiyonu yöntemi kullanılırken, PAI-1 4G/5G polimorfizminin belirlenmesinde al- lel spesifik amplifikasyon yöntemine dayanan polimeraz zincir reaksiyonu yöntemi kullanıldı. Bulgular: Çalışmamızda, hasta grubu ile kontrol grubu arasında ACE I/D ve PAI-1 4G/5G polimorfizmi açısından istatistiksel olarak anlamlı bir fark bulunmadı (p> 0.05). Sonuç: Elde ettiğimiz bulgularda, bu gen polimorfizmleri ile venöz tromboemboli oluşumuna yatkınlık arasında ilişki bulunmamıştır. Daha fazla venöz tromboemboli hastasının değerlendirildiği ve ilişkisi olabilecek diğer gen polimorfizmlerinin araştırıldığı çalışmalara ihtiyaç vardır.

The investigation of angiotensin converting enzyme I/D and plasminogen activator inhibitor-1 4G/5G polymorphisms in venous thromboembolism patients

Introduction: Deep venous thrombosis and pulmonary embolism, known as venous thromboembolism and seen as a fairly common multifactorial diseases. Differ between populations due to genetic factors, several polymorphisms associated with venous thromboembolism was conducted. As a result of these studies the relationship between disease development and polymorphism is not clear yet. In this study we aimed to investigate the role of angiotensin converting enzyme insersion/deletion (ACE I/D) and plasminogen activator inhibitor-1 4G/5G (PAI-1 4G/5G) polymorphism in the development of disease. Materials and Methods: In our study, DNA isolated from 80 venous thromboembolism patients and 79 control groups was used. While the classical polymerase chain reaction method used to investigate the ACE I/D polymorphism, the polymerase chain reaction based on allele-specific amplification was used for the detection of PAI-1 4G/5G polymorphism. Results: As a result, there were no significant statistical differences for ACE I/D and PAI-1 4G/5G polymorphism among patient and control groups (p> 0.05). Conclusion: These findings revealed that there is no relationship between these polymorphisms and the development of venous thromboembolism, but large-scale studies are need to be done.

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