Muhammed Ertugrul EGİN, Zülfinaz Betül ÇELİK, Ümit KERVAN, Mehmet KARAHAN, Abdulgani TATAR

Türkiye'nin Doğu Anadolu Bölgesi'nde Venöz Tromboembolizm olan Hastalarda Trombofilik Gen Mutasyonlarının Sıklığının Araştırılması

Amaç: Faktör V Leiden (FVL), Protrombin G20210A ve metilentetrahidrofolat redüktaz (MTHFR) gibi trombofili genlerindeki polimorfizmler, trombofili için genetik yatkınlığa neden olur. Bu polimorfizmlerin bölgesel insidansı değişiklik gösterebilmektedir. Çalışmamızın amacı, bu trombofili genlerinin en sık görülen tek nükleotid polimorfizmlerinin bölgesel sıklığını değerlendirmektir. Yöntemler: Retrospektif olarak dizayn edilen bu çalışmada merkezimizde VTE tanısı alan hastalar araştırmaya dahil edildi. Hastalardan elde edilen kan örnekleri ile FVL, Protrombin G20210A, MTHFR C677T, MTHFR A1298C, plazminojen aktivatör inhibitörü (PAI)-1, β-Fibrinojen, Faktör XIIIA (V34L) ve Glikoprotein IIIA (L33P) varlığı araştırıldı ve genotip bozukluklarının birlikteliği de ayrıca değerlendirildi. Bulgular: Kliniğimizde trombofili paneli çalışılan 2000 hastada sekiz genotip analiz edildi. Faktör II G20210A polimorfizmleri için heterozigotluk sıklığı %4,6, Faktör V Leiden polimorfizmi için homozigotluk %0,4, MTHFR C677T için %7,6, MTHFR A1298C için %48,1 ve %15,7, PAI-1 için %38,8 ve %13 , β-Fibrinojen için %30,3 ve %4, Faktör XIIIA (V34L) için %23,3 ve %2,4 ve Glikoprotein IIIA (L33P) için % 17,7 ve %1,5 bulunmuştur. Sonuç: Bölgemizde Faktör V Leiden ve Faktör II (Protrombin) G20210A mutasyonları batıdaki diğer bölgelere göre daha yüksek oranda bulundu.

Anahtar Kelimeler:

trombofili, venöz tromboembolizm, gen mutasyonu

Investigation of the Frequency of Thrombophilic Gene Mutations in Patients with Venous Thromboembolism in Eastern Turkey

Objectives: Polymorphisms in the thrombophilia genes such as Factor V Leiden (FVL), Prothrombin G20210A and methylenetetrahydrofolate reductase (MTHFR) cause genetic predisposition to thrombophilia. The regional incidence of these polymorphisms varies. The aim of our study is to evaluate the regional frequency of the most common single nucleotide polymorphisms of these thrombophilia genes. Methods: In this retrospective study, patients diagnosed with VTE in our center were included in the study. The presence of FVL, Prothrombin G20210A, MTHFR C677T, MTHFR A1298C, plasminogen activator inhibitor (PAI)-1, β-Fibrinogen, Factor XIIIA (V34L) and Glycoprotein IIIA (L33P) were investigated in blood samples obtained from the patients, and the association of genotype disorders was also evaluated. Results: Eight genotypes were analyzed in 2000 patients whose thrombophilia panel was studied in our clinic. The frequency of heterozygosity for the Factor II G20210A polymorphisms was 4,6%, the homozygosity for the Factor V Leiden polymorphism was 0,4%, for MTHFR C677T 7,6% , for MTHFR A1298C 48,1% and 15,7% , for PAI-1 38,8% and 13% , for β-Fibrinogen 30,3% and 4%, for Factor XIIIA (V34L) 23,3% and 2,4% and for Glycoprotein IIIA (L33P) 17,7% and 1,5% respectively. Conclusions: Factor V Leiden and Factor II (Prothrombin) G20210A mutations were found at a higher rate in our region compared to other regions in the west.

Keywords:

thrombophilia, venous thromboembolism, gene mutation,

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