Activated Protein C Resistance and Factor V Leiden in Mexico

Majluf‐Cruz, Abraham; Moreno-Hernández, Manuel; Ruiz-de-Chávez-Ochoa, Adriana Aurelia; Monroy-Garcia, R.; Majluf-Cruz, Karim; Guardado-Mendoza, Rodolfo; Molina-Ávila, Irma; Isordia‐Salas, Irma; Peña, N. Corona-De La; Vargas-Voráckóva, Florencia; Vela‐Ojeda, Jorge; Garcı́a-Chávez, Jaime

doi:10.1177/1076029607306807

Cited by 9 publications

(9 citation statements)

References 49 publications

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“…Our study shows, as was found by Majluf-Cruz et al (2008), that the Leiden factor V polymorphism is not very common in our population, as we did not find it in any of the patients, their mothers, or controls. Recently, our group with different patients found the same (Zavala Hernández et al, 2010).…”

Section: Discussionsupporting

confidence: 75%

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Leiden V Factor and Spastic Cerebral Palsy in Mexican Children

Arenas-Sordo

Zavala-Hernández²,

Casiano-Rosas

et al. 2012

Genetic Testing and Molecular Biomarkers

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Section: Discussionsupporting

confidence: 75%

“…In Mexico, there are two studies: one mentioning high prevalence (Ruiz-Argü elles et al, 2005) and the other, the opposite (Majluf-Cruz et al, 2008).…”

Section: Introductionmentioning

confidence: 99%

Leiden V Factor and Spastic Cerebral Palsy in Mexican Children

Arenas-Sordo

Zavala-Hernández²,

Casiano-Rosas

et al. 2012

Genetic Testing and Molecular Biomarkers

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“…We searched PubMed using the terms related to VTE [Mesh Terms] (venous thrombosis, venous thromboembolism, deep vein thrombosis, pulmonary embolism, or thrombophilia) and the terms related to genetics [Title/Abstract] (genetic, genetics, mutation, mutations, polymorphism, polymorphisms, variant, variants, variation, variations, SNP, SNPs, GWAS, GWA study, GWA studies, genome wide, protein C deficiency, protein S deficiency, antithrombin deficiency, thrombomodulin, factor V Leiden, FV Leiden, factor V G1691A, factor II G20210A, or prothrombin G20210A). lation has been elucidated (30)(31)(32)(33)(34)(35)(36)(37)(38)(39)(40)(41)(42)(43)(44)(45)(46). On average, the allele frequency of FV Leiden is estimated to be 3.5 % in Europe (47).…”

Section: Introductionmentioning

confidence: 99%

Ethnic diversity in the genetics of venous thromboembolism

Tang¹,

Hu²

2015

Thromb Haemost

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Genetic susceptibility is considered as a crucial factor for the development of venous thromboembolism (VTE). Epidemiologic and genetic studies have revealed clear disparities in the incidence of VTE and the distribution of genetic factors for VTE in populations stratified by ethnicity worldwide. While gain-of-function polymorphisms in the procoagulant genes are common inherited factors in European-origin populations, the most prevalent molecular basis for venous thrombosis in Asians is confirmed to be dysfunctional variants in the anticoagulant genes. With the breakthrough of genomic technologies, a set of novel common alleles and rare mutations associated with VTE have also been identified, in different ethnic groups. Several putative pathways contributing to the pathogenesis of thrombophilia in populations of African-ancestry are largely unknown, as current knowledge of hereditary and acquired risk factors do not fully explain the highest risk of VTE in Black groups. In-depth studies across diverse ethnic populations are needed to unravel the whole genetics of VTE, which will help developing individual risk prediction models and strategies to minimise VTE in all populations.

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“…The risk for thrombosis increases in the presence of multiple thrombophilic defects [3]. Hereditary thrombophilic factors and their frequencies exhibit some variations in different populations or patient groups [4][5][6][7][8]. Ischemic stroke (IS) is usually associated with arterial diseases (e.g.…”

Section: Introductionmentioning

confidence: 99%

Evaluation of risk factors for thrombophilia in patients with cerebral venous thrombosis

Yokuş¹,

Balçık²,

Albayrak³

et al. 2010

Turk J Hematol

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Objective: The increased risk for thrombosis is known as hypercoagulability or thrombophilia. In our study, we aimed to determine the frequency of the identified defects for thrombophilia in patients with central venous thrombosis aged under 50 years and to compare results with the findings in the current literature. Materials and Methods: Forty-three patients (16-50 years old) were retrospectively evaluated. Thrombophilia investigation included determinations of protein C, protein S, antithrombin, and activated protein C resistance, factor V Leiden (FVL), prothrombin 20210A (PT 20210) and methylene tetrahydrofolate reductase (MTHFR) C677T mutations, antiphospholipid antibodies (APA), factor VIII levels, and homocysteine levels. Results: We detected a single thrombophilic defect in 67.4%, two defects in 27.9% and three defects in 4.7% of our patients. The most common thrombophilic defect was mutation in the MTHFR gene (41.8%), and this was followed by the FVL mutation (34.9%). Conclusion: Since the prevalence of individual thrombophilic defects varies in each population, ethnic group and geographical location, screening for thrombophilic defects in patients presenting with cerebral venous thrombosis should primarily investigate the most frequent thrombophilia risk factors. (Turk J Hematol 2010; 27: 162-7) Key words: Cerebral venous thrombosis, thrombophilia, thrombophilic defects Received: October 4, 2009 Accepted: March 22, 2010 Özet Amaç: Tromboz riskinin artması hiperkoagulabilite ya da trombofili olarak bilinmektedir. Çalışmamızda, serebral venöz tromboz gelişen ve trombofilik defekt saptanan 50 yaş ve altı hastalarımızda tespit edilen trombofilik defektleri, sıklığını değerlendirmek ve literatür bilgileriyle karşılaştırmak amaçlanmıştır.

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Activated Protein C Resistance and Factor V Leiden in Mexico

Cited by 9 publications

References 49 publications

Leiden V Factor and Spastic Cerebral Palsy in Mexican Children

Leiden V Factor and Spastic Cerebral Palsy in Mexican Children

Ethnic diversity in the genetics of venous thromboembolism

Evaluation of risk factors for thrombophilia in patients with cerebral venous thrombosis

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