The Role of Plasminogen Activator Inhibitor-1 Polymorphism, Factor-V-Leiden, and Prothrombin-20210 Mutations in Pulmonary Thromboembolism

Oğuzülgen, I. Kıvılcım; Demirtas, Senay; Erkekol, Ferda Öner; Ekim, Numan; Demir, Nalan; Numanoğlu, Numan; Özel, Duygu; Ulu, Arzu; Akar, Nejat

doi:10.1177/1076029607305110

Cited by 15 publications

(11 citation statements)

References 18 publications

(26 reference statements)

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“…They found no association between PAI-1 polymorphism and its concomitant presence with FVL and PT gene mutations in patients with PE. 36 The current study confirms the lack of association between PAI-1 4G/5G genotype and the occurrence of VTE, as in previous reports from our country. 15,36 Factor V Cambridge is a transversion of G to C in nucleotide 1091 in exon 7 of the FV gene and results in the replacement of Arg306 with Thr.…”

Section: Discussionsupporting

confidence: 92%

“…33,34 On the contrary, other studies have demonstrated a increased prevalence of FVL mutation, between 18.8% and 21% in patients with PE. 35,36 In regard to PE, the prevalence of FVL mutation has been found to be lower in patients with isolated PE (4.8%-9%) compared to those with PE þ DVT (12.6%-24%). [37][38][39][40][41] A study from Turkish population has also demonstrated a higher prevalence of FVL mutation in patients with PE þ DVT (29.7%) than the isolated PE (15%) ones.…”

Section: Discussionmentioning

confidence: 99%

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Genetic Mutations in Turkish Population With Pulmonary Embolism and Deep Venous Thrombosis

Küpeli̇

Verdı

Simsek

et al. 2010

Clin Appl Thromb Hemost

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Venous thromboembolism (VTE) is a universal health hazard. Inherited and acquired risk factors increase the risk of VTE. We evaluated the relationship between factor V (G1691A, A1090G, and A1299G), prothrombin (PT G20210A), methylenetetrahydrofolate reductase (MTHFR C677T) mutations, plasminogen activator inhibitor 1 (PAI-1 -675) polymorphism, and VTE in Turkish population. In all, 80 patients with VTE and 104 controls were included. Heterozygous factor V Leiden (FVL) mutation was significantly higher among patients (P = .04) with allele frequency of 6.3% (P = .01). Heterozygous PT G20210A mutation was also significantly higher among patients (P = .001) with allele frequency of 6.9% (P = .003). MTHFR 677TT genotype was significantly higher in patients (P = .009) with allele frequency of 23.8% (P = .005). No significant difference was found in FV A1090G and FV A1299G mutation rate as well as PAI-1 genotypes and their allele frequencies (P > .05). Thus, frequencies of FV G1691A, PT G20210A, and MTHFR C677T mutations are higher in patients with VTE. FV A1090G, FV A1299G mutations, and PAI-1 gene polymorphisms may not be a risk factor for VTE in Turkish population.

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Section: Discussionsupporting

confidence: 92%

Section: Discussionmentioning

confidence: 99%

Genetic Mutations in Turkish Population With Pulmonary Embolism and Deep Venous Thrombosis

Küpeli̇

Verdı

Simsek

et al. 2010

Clin Appl Thromb Hemost

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“…28 databases out of 37 (76%) came from European countries [9, 16, 19, 20, 23-26, 29-37, 39, 40-43, 45], 3 from Latin America [9, 21, 44], 4 from North America [22, 27, 28, 38] and 2 from Asia [17, 18]. …”

Section: Resultsmentioning

confidence: 99%

Risk of venous thromboembolism associated with single and combined effects of Factor V Leiden, Prothrombin 20210A and Methylenetethraydrofolate reductase C677T: a meta-analysis involving over 11,000 cases and 21,000 controls

et al. 2013

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BACKGROUND Genetic and environmental factors interact in determining the risk of venous thromboembolism (VTE). The risk associated with the polymorphic variants G1691A of factor V (Factor V Leiden,FVL), G20210A of prothrombin (PT20210A) and C677T of methylentetrahydrofolate reductase (C677T MTHFR) genes has been investigated in many studies. METHODS We performed a pooled analysis of case-control and cohort studies investigating in adults the association between each variant and VTE, published on Pubmed, Embase or Google through January 2010. Authors of eligible papers, were invited to provide all available individual data for the pooling. The Odds Ratio (OR) for first VTE associated with each variant, individually and combined with the others, were calculated with a random effect model, in heterozygotes and homozygotes (dominant model for FVL and PT20210A; recessive for C677T MTHFR). RESULTS We analysed 31 databases, including 11,239 cases and 21,521 controls. No significant association with VTE was found for homozygous C677T MTHFR (OR: 1.38; 95% confidence intervals [CI]: 0.98–1.93), whereas the risk was increased in carriers of either heterozygous FVL or PT20210 (OR=4.22; 95% CI: 3.35–5.32; and OR=2.79;95% CI: 2.25–3.46, respectively), in double hterozygotes (OR=3.42; 95%CI 1.64-7.13), and in homozygous FVL or PT20210A (OR=11.45; 95%CI: 6.79-19.29; and OR: 2.79; 95%CI: 2.25 – 3.46, respectively). The stratified analyses showed a stronger effect of FVL on individuals ≤45 years (p-value for interaction = 0.036) and of PT20210A in women using oral contraceptives (p-value for interaction = 0.045). CONCLUSIONS In this large pooled analysis, inclusive of large studies like MEGA, no effect was found for C677T MTHFR on VTE; FVL and PT20210A were confirmed to be moderate risk factors. Notably, double carriers of the two genetic variants produced an impact on VTE risk significantly increased but weaker than previously thought.

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“…Plazminojen aktivatör inhibitör-1 (PAI-1), plazmadaki plazminojen aktivatörlerinin primer inhibitörüdür. PAI-1'in yüksek seviyeleri, tromboza yatkınlığı artıran hipofibrinolitik durum oluşturabilir (10). Anjiyotensin dönüştürücü enzim (ACE) insersiyon/delesyon (I/D) ve PAI-1 4 Guanozin/5 Guanozin (4G/5G) polimorfizmleri, trombotik risk oluşumundaki rolleri nedeniyle VTE'li olgularda araştırılan genetik faktörler arasında yer almaktadır (1).…”

Section: Introductionunclassified

The investigation of angiotensin converting enzyme I/D and plasminogen activator inhibitor-1 4G/5G polymorphisms in venous thromboembolism patients

Kaya¹,

Karkucak²,

Salifoğlu³

et al. 2013

Tuberk Toraks

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The Role of Plasminogen Activator Inhibitor-1 Polymorphism, Factor-V-Leiden, and Prothrombin-20210 Mutations in Pulmonary Thromboembolism

Cited by 15 publications

References 18 publications

Genetic Mutations in Turkish Population With Pulmonary Embolism and Deep Venous Thrombosis

Genetic Mutations in Turkish Population With Pulmonary Embolism and Deep Venous Thrombosis

Risk of venous thromboembolism associated with single and combined effects of Factor V Leiden, Prothrombin 20210A and Methylenetethraydrofolate reductase C677T: a meta-analysis involving over 11,000 cases and 21,000 controls

The investigation of angiotensin converting enzyme I/D and plasminogen activator inhibitor-1 4G/5G polymorphisms in venous thromboembolism patients

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