The frequency of factor V, factor II and MTHFR mutations in pulmonary thromboembolism cases in the western Black Sea region
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Dosyalar
Tarih
2010
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
Objective: Frequently an inherited predisposition for venous thromboembolism (VTE) remains clinically silent until an additional acquired risk factors intervenes. In this study, we aimed to evaluate frequency and distribution of hereditary risk factors leading to development of venous thrombosis in patients with pulmonary thromboembolism (PE). Material and Methods: We investigated two different mutation (Leiden: FVL, G1691A and FVH1299R) of factor V gene, factor II (FII, prothrombin factor) gene mutation (G20210A) and mutations (C677T and A1298C) of methylenetetrahydrofolate reductase (MTHFR) gene in the total 46 patients (58 ± 18.8), 27 females and 19 males, referred to our clinic with diagnosis of PE by Real time PCR by using probe marked with fluorescent dye providing the separation for mutant and wild allelles. We also evaluated distribution of inherited thrombophilia mutations and the family history of VTE. Results: We determined the rate of FVL, FV (H1299R), MTHFR (C677T and A1298C) mutations in our patients as 32.6%, 2.2%, 67.4% ve 63%, respectively. FII (G20210A) mutation could not be determined. Twenty six percent of the patients had only one mutation, while 71.7% of them had two or more mutations. In 77% of individuals with family history, there were two or more mutations. Sixty three percent patients had at least one of MTHFR gene mutations alone. In 34% of the patients, a combination of at least one of MTHFR gene mutations with either FVL or FV (H1299R) mutation was available. In 21.7% patients, the history of VTE was present in the different body part. Inherited thrombophilia with neoplasia was present in 8.7% of patients. Conclusion: In patients with PE, rate of FVL, and mutations (C677T and A1298C) of MTHFR gene was higher than the previous limited data for Turkey. Determination of the relationship between VTE and inherited abnormalities will be useful for society health and familial risk relations, correctly, in addition to diagnosis and following of patients. Moreover, such studies will provide valuable data on the role of interactions for gene-gene and gene-environment in PE. Copyright © 2010 by Türkiye Klinikleri.
Açıklama
Anahtar Kelimeler
Factor V Leiden, Methylenetetrahydrofolate Reductase (NADPH2), Prothrombin, Pulmonary Embolism, Thrombophilia, Venous Thromboembolism
Kaynak
Turkiye Klinikleri Cardiovascular Sciences
WoS Q Değeri
Scopus Q Değeri
Q4
Cilt
22
Sayı
2
