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

Muhammed Ertuğrul EĞİN, (Atatürk Üniversitesi, Tıp Fakültesi, Tıbbi Genetik Bölümü, Erzurum, Türkiye)
Zülfinaz Betül ÇELİK, (Samsun Üniversitesi, Tıp Fakültesi, Tıbbi Biyoloji Anabilim Dalı, Samsun, Türkiye)
Ümit KERVAN, (Sağlık Bilimleri Üniversitesi, Ankara Şehir Hastanesi, Kalp Damar Cerrahisi Bölümü, Ankara, Türkiye)
Mehmet KARAHAN, (Sağlık Bilimleri Üniversitesi, Ankara Şehir Hastanesi, Kalp Damar Cerrahisi Bölümü, Ankara, Türkiye)
Abdulgani TATAR (Atatürk Üniversitesi, Tıp Fakültesi, Tıbbi Genetik Bölümü, Erzurum, Türkiye)
Genel Tıp Dergisi
2 1
Yıl: 2023 Cilt: 33 Sayı: 3 Sayfa Aralığı: 268 - 273 Metin Dili: İngilizce DOI: 10.54005/geneltip.1196430 İndeks Tarihi: 15-08-2023

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

Öz:
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.
Anahtar Kelime: thrombophilia venous thromboembolism gene mutation

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

Öz:
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 Kelime: trombofili venöz tromboembolizm gen mutasyonu

Belge Türü: Makale Makale Türü: Araştırma Makalesi Erişim Türü: Erişime Açık
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APA Egin M, Çelik Z, Kervan U, Karahan M, Tatar A (2023). Investigation of the Frequency of Thrombophilic Gene Mutations in Patients with Venous Thromboembolism in Eastern Turkey. , 268 - 273. 10.54005/geneltip.1196430
Chicago Egin Muhammed Ertugrul,Çelik Zülfinaz Betül,Kervan Umit,Karahan Mehmet,Tatar Abdulgani Investigation of the Frequency of Thrombophilic Gene Mutations in Patients with Venous Thromboembolism in Eastern Turkey. (2023): 268 - 273. 10.54005/geneltip.1196430
MLA Egin Muhammed Ertugrul,Çelik Zülfinaz Betül,Kervan Umit,Karahan Mehmet,Tatar Abdulgani Investigation of the Frequency of Thrombophilic Gene Mutations in Patients with Venous Thromboembolism in Eastern Turkey. , 2023, ss.268 - 273. 10.54005/geneltip.1196430
AMA Egin M,Çelik Z,Kervan U,Karahan M,Tatar A Investigation of the Frequency of Thrombophilic Gene Mutations in Patients with Venous Thromboembolism in Eastern Turkey. . 2023; 268 - 273. 10.54005/geneltip.1196430
Vancouver Egin M,Çelik Z,Kervan U,Karahan M,Tatar A Investigation of the Frequency of Thrombophilic Gene Mutations in Patients with Venous Thromboembolism in Eastern Turkey. . 2023; 268 - 273. 10.54005/geneltip.1196430
IEEE Egin M,Çelik Z,Kervan U,Karahan M,Tatar A "Investigation of the Frequency of Thrombophilic Gene Mutations in Patients with Venous Thromboembolism in Eastern Turkey." , ss.268 - 273, 2023. 10.54005/geneltip.1196430
ISNAD Egin, Muhammed Ertugrul vd. "Investigation of the Frequency of Thrombophilic Gene Mutations in Patients with Venous Thromboembolism in Eastern Turkey". (2023), 268-273. https://doi.org/10.54005/geneltip.1196430
APA Egin M, Çelik Z, Kervan U, Karahan M, Tatar A (2023). Investigation of the Frequency of Thrombophilic Gene Mutations in Patients with Venous Thromboembolism in Eastern Turkey. Genel Tıp Dergisi, 33(3), 268 - 273. 10.54005/geneltip.1196430
Chicago Egin Muhammed Ertugrul,Çelik Zülfinaz Betül,Kervan Umit,Karahan Mehmet,Tatar Abdulgani Investigation of the Frequency of Thrombophilic Gene Mutations in Patients with Venous Thromboembolism in Eastern Turkey. Genel Tıp Dergisi 33, no.3 (2023): 268 - 273. 10.54005/geneltip.1196430
MLA Egin Muhammed Ertugrul,Çelik Zülfinaz Betül,Kervan Umit,Karahan Mehmet,Tatar Abdulgani Investigation of the Frequency of Thrombophilic Gene Mutations in Patients with Venous Thromboembolism in Eastern Turkey. Genel Tıp Dergisi, vol.33, no.3, 2023, ss.268 - 273. 10.54005/geneltip.1196430
AMA Egin M,Çelik Z,Kervan U,Karahan M,Tatar A Investigation of the Frequency of Thrombophilic Gene Mutations in Patients with Venous Thromboembolism in Eastern Turkey. Genel Tıp Dergisi. 2023; 33(3): 268 - 273. 10.54005/geneltip.1196430
Vancouver Egin M,Çelik Z,Kervan U,Karahan M,Tatar A Investigation of the Frequency of Thrombophilic Gene Mutations in Patients with Venous Thromboembolism in Eastern Turkey. Genel Tıp Dergisi. 2023; 33(3): 268 - 273. 10.54005/geneltip.1196430
IEEE Egin M,Çelik Z,Kervan U,Karahan M,Tatar A "Investigation of the Frequency of Thrombophilic Gene Mutations in Patients with Venous Thromboembolism in Eastern Turkey." Genel Tıp Dergisi, 33, ss.268 - 273, 2023. 10.54005/geneltip.1196430
ISNAD Egin, Muhammed Ertugrul vd. "Investigation of the Frequency of Thrombophilic Gene Mutations in Patients with Venous Thromboembolism in Eastern Turkey". Genel Tıp Dergisi 33/3 (2023), 268-273. https://doi.org/10.54005/geneltip.1196430
Sayfa Oluşturulma Tarihi
24-04-2024 8:50

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