Factor V Gene (1691A and 4070G) and Prothrombin Gene 20210A Mutations in Patients with Behçet’s Disease

Abstract

Objectives: Behçet’s disease (BD) is a chronic inflammatory disorder of still unknown etiology, characterized by endothelial cell injury/dysfunction and thrombosis and/or aneurysm of large blood vessels. Thrombophilia may play a role in the pathogenesis of thrombosis in BD. The common inherited gene defects, factor V (FV) 1691A (Leiden) and prothrombin (PT) 20210A, are known risk factors for thrombosis. The FV 4070G polymorphism was shown to influence circulating FV levels and to contribute to the activated protein C resistance phenotype. The aim of the study was to evaluate the role of FV 1691A, FV 4070G and PT 20210A gene mutations in Turkish BD patients with and without venous thrombosis. Methods: Seventy-one patients with BD (27 with venous thrombosis) and 91 healthy subjects were included in the study. FV 1691A, FV 4070G, and PT 20210A mutations were determined by a method based on PCR-RFLP. Results: The frequency of FV 1691A heterozygous mutation in BD patients with venous thrombosis (25.9%) was significantly higher than that in healthy subjects (8.8%; OR = 3.63; 95% CI 1.18–11.2). Although the frequency of this mutation in patients with venous thrombosis was higher than that in the patients without venous thrombosis (11.4%), the difference did not reach a statistically significant level (OR = 2.73; 95% CI 0.77–9.70). In BD patients with thrombosis, the frequencies of FV 4070G and PT 20210A were not significantly different compared to the BD patients without venous thrombosis and healthy subjects. Conclusions: Our results suggest that the FV 1691A, FV 4070G, and PT 20210A mutations are unlikely to play an important role in the pathogenesis of thrombosis in patients with BD.

Investigations of genetic polymorphisms related to Behcet\s disease in Turkish population

“…İnaktive edilemediği için aktif Faktör V miktarı artar ve aktif haldeki faktör V normalden daha yavaş yıkıldığı için kişide pıhtılaşmaya bir eğilim meydana gelir (95 Tromboz oluşumunda rolü olan bir diğer molekül olan protrombin (PT) G20210A mutasyonunun plazma protrombin seviyesindeki artış ve venöz tromboz riskinin 3 kat daha fazla olması ile ilişkili olduğu kaydedilmiştir (99). Gül ve arkadaşları (100) Türk popülasyonunda bu polimorfizmin BH olanlarda tromboza eğilimi artırdığını öne sürmüş, fakat daha sonrasında yapılan diğer iki çalışmada PT G20210A mutasyonunun BH'da görülen tromboz ile ilişkili olmadığı kaydedilmiştir (98,101).…”

Soluble endothelial protein C receptor levels in Behçet patients with and without ocular involvement

“…Protrombin 20210A mutation has also been investigated in Behçet's disease and a significant relation with thrombosis has been reported [19]. However, there are contradictory reports that no association has been found between these two thrombophilic mutations and thrombogenesis in Behçet patients [2,13,46]. The protein C anticoagulant pathway acts as a major system for controlling thrombosis, limiting inflammatory responses, and potentially decreasing endothelial cell apoptosis in response to inflammatory cytokines and ischemia [9,18,31].…”

Multiple small bowel perforations due to Behçet's Disease

“…Ancak trombofilianın BH gelişiminde etkisi tartışmalıdır. [15,16] Her ne kadar genetik trombotik defektler, bozulmuş koagülasyon/fibrinolizis, endotel hasarı ya da disfonksiyonu ile birlikte diğer immüno enflamatuvar molekül-lerin hepsinin katkısı olsa da BH'de trombotik durumun altta yatan nedeni tam olarak bilinmemektedir. Aksu ve ark.nın araştırmasında, BH'de plazma homosistein konsantrasyonu sağlıklı popülasyona göre anlamlı olarak daha yüksektir.…”