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

Muhammed Ertugrul Egin; Zülfinaz Betül Çelik; Ümit Kervan; Mehmet Karahan; Abdulgani Tatar

Makale detayları

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

Yazarlar:

Muhammed Ertugrul Egin | Zülfinaz Betül Çelik | Ümit Kervan | Mehmet Karahan | Abdulgani Tatar

Yayıncı:

Selcuk University

Ana Başlıklar:

Klinik Tıp Bilimleri

Dergi:

Genel Tıp Dergisi Vol.33 Issue 3, pp.268-273

Belge Tipi:

Makale

Yayın Tarihi:

6/2023

Belge Dili:

İngilizce

Document ID (Org No.):

2001292815

pISSN:

2602-3741

Anahtar kelimeler:

Özet:

 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.

 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.

 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.

 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.

Makale detayları

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

Yazarlar:

Muhammed Ertugrul Egin | Zülfinaz Betül Çelik | Ümit Kervan | Mehmet Karahan | Abdulgani Tatar

Yayıncı:

Selcuk University

Ana Başlıklar:

Klinik Tıp Bilimleri

Dergi:

Genel Tıp Dergisi Vol.33 Issue 3, pp.268-273

Belge Tipi:

Makale

Yayın Tarihi:

6/2023

Belge Dili:

İngilizce

Document ID (Org No.):

2001292815

pISSN:

2602-3741

thrombophilia

venous thromboembolism

gene mutationtrombofili

venöz tromboembolizm

gen mutasyonu

Sayı

Makale detayları

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

Yazarlar: Muhammed Ertugrul Egin | Zülfinaz Betül Çelik | Ümit Kervan | Mehmet Karahan | Abdulgani Tatar

Yayıncı: Selcuk University

Ana Başlıklar: Klinik Tıp Bilimleri

Dergi: Genel Tıp Dergisi Vol.33 Issue 3, pp.268-273

Belge Tipi: Makale

Yayın Tarihi: 6/2023

Belge Dili: İngilizce

Document ID (Org No.): 2001292815

pISSN: 2602-3741

thrombophilia

venous thromboembolism

gene mutationtrombofili

venöz tromboembolizm

gen mutasyonu

Sayı

Yazarlar:

Muhammed Ertugrul Egin | Zülfinaz Betül Çelik | Ümit Kervan | Mehmet Karahan | Abdulgani Tatar

Yayıncı:

Selcuk University

Ana Başlıklar:

Klinik Tıp Bilimleri

Dergi:

Genel Tıp Dergisi Vol.33 Issue 3, pp.268-273

Belge Tipi:

Makale

Yayın Tarihi:

6/2023

Belge Dili:

İngilizce

Document ID (Org No.):

2001292815

pISSN:

2602-3741