Arg506GIn Factor V Mutation (Factor V Leiden) in Patients with Ischaemic Cerebrovascular Disease and Survivors of Myocardial Infarction

Kontula, Kimmo; Ylikorkala, Antti; Miettinen, Helena E.; Vuorio, Alpo; Kauppinen‐Mäkelin, Ritva; Hämäläinen, Lasse; Palomäki, Heikki; Kaste, Markku

doi:10.1055/s-0038-1653820

Cited by 162 publications

(79 citation statements)

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“…We concluded that platelet hyperaggregation may be considered to be a more specific marker of migraine. Conflicting results have been reported regarding the prevalence of genetic prothrombotic risk factors in migraine [18][19][20][21][22][23]. In our study, in accordance with Corral et al [20] and Soriani et al [22], the frequencies of the two main prothrombotic polymorphisms for venous thromboembolism (Leiden, prothrombin) did not differ from those of controls.…”

Section: Discussionsupporting

confidence: 89%

“…A Finish study detected a higher frequency of migraine with aura in patients suffering from ischemic stroke who carried the factor V Leiden (67%) than in those who had no mutation (26%) [18]; these findings were subsequently confirmed by Leone et al [19]. In contrast, a case-control study did not find a significantly higher frequency of several prothrombotic factors (factor V Leiden, G20210A mutation of factor II, decanucleotide insertion/deletion in factor VII promoter, HPA-1 and HPA-2 polymorphisms) in 106 migrainous patients compared to healthy controls [20], even if a particularly high frequency of factor V Leiden, not reaching statistical significance, was found in patients suffering from migraine with aura.…”

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confidence: 99%

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Screening for genetic and acquired thrombophilia in a cohort of young migrainous patients

et al. 2003

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Growing evidence suggests a possible relationship between migraine and thrombotic risk factors. The aim of this study was to analyze the possible relationship between migraine and acquired and genetic thrombophilia in a young population. We compared 16 migrainous adolescents, 12 children with tension-type headache, and controls in terms of frequencies of prothrombotic polymorphisms (factor V Leiden, C677T mutation of 5,10 methylenetetrahydrofolate reductase, G20210A mutation of prothrombin), platelet aggregability, anticoagulant antibodies, blood lipid pattern, serum folate and vitamin B12 levels, homocysteinemia, coagulation parameters, and family history for migraine and precocious thrombotic events. This study confirms the link between migraine and increased platelet responsiveness. Overall, 62.5% of migrainous patients carried at least three thrombophilic factors. Our preliminary data suggest that, in order to assess prevention strategies, it could be appropriate to perform a complete thrombophilia screening in young patients suffering from migraine and with a family history of thrombosis.

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Section: Discussionsupporting

confidence: 89%

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confidence: 99%

Screening for genetic and acquired thrombophilia in a cohort of young migrainous patients

et al. 2003

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“…Our data agree with these observations since this lower incidence may partly reflect the absence of the most important known cause of venous thrombophilia (the FVL mutation) in this ethnic group. The possibility that FVL might be a genetic risk factor for arterial thrombotic disease has been investigated in several studies, but with conflicting results (Prohaska et al, 1995;Kontula et al, 1995;van der Bom et al, 1996;Foley et al, 1997). However, a recent study demonstrated a clear relationship between the presence of FVL and increased predisposition for myocardial infarction in young women (Rosendaal et al, 1997).…”

Section: Resultsmentioning

confidence: 99%

Heterogeneous ethnic distribution of the factor v leiden mutation

Franco

Élion²,

Santos

et al. 1999

Genet. Mol. Biol.

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Inherited resistance to activated protein C caused by the factor V Leiden (FVL) mutation is the most common genetic cause of venous thrombosis yet described, being found in 20-60% of patients with venous thrombophilia. A relationship between the FVL mutation and an increased predisposition to arterial thrombosis in young women was recently reported. We assessed the prevalence of the FVL mutation in 440 individuals (880 chromosomes) belonging to four different ethnic groups: Caucasians, African Blacks, Asians and Amerindians. PCR amplification followed by MnlI digestion was employed to define the genotype. The FVL mutation was found in a heterozygous state in four out of 152 Whites (2.6%), one out of 151 Amerindians (0.6%), and was absent among 97 African Blacks and 40 Asians. Our results confirm that FVL has a heterogeneous distribution in different human populations, a fact that may contribute to geographic and ethnic differences in the prevalence of thrombotic diseases. In addition, these data may be helpful in decisions regarding the usefulness of screening for the FVL mutation in subjects at risk for thrombosis.
Resistência à proteína C ativada associada à mutação do fator V Leiden (FVL) é a mais prevalente causa genética de trombose venosa conhecida, sendo encontrada em 20 a 60% dos pacientes com trombofilia. Adicionalmente, uma associação entre a mutação do FVL e predisposição aumentada para doença cardiovascular prematura em mulheres foi recentemente descrita. No presente estudo nós determinamos a prevalência da mutação do FVL em 440 indivíduos (880 cromossomos) de 4 grupos étnicos diferentes: caucasóides, negros africanos, asiáticos e ameríndios. Amplificação por PCR seguida de digestão com a enzima de restrição MnlI foi utilizada para definição do genótipo. A mutação do FVL foi encontrada em heterozigose em 4 de 152 caucasóides (2,6%), 1 de 151 ameríndios (0,6%) e esteve ausente em 97 negros africanos e 40 asiáticos. Nossos resultados confirmam que o FVL apresenta distribuição heterogênea em diferentes populações humanas, fato que pode contribuir para diferenças étnicas e geográficas na prevalência de doenças trombóticas. Adicionalmente, estes dados podem ser úteis para a definição de estratégias de rastreamento desta mutação em indivíduos sob risco para desenvolvimento de trombose, na população brasileira

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“…Worth noting is that the only other published study tackling the genetic aspects of juvenile migraine has, based on evidence suggestive of an association between migraine and prothrombotic genetic risk factors, considered the factor V Leiden mutation [15] due to its high prevalence in patients with stroke and history of migraine [16]. As in our experience, no difference in the prevalence of this mutation was found in children and adolescents with migraine with aura vs. controls.…”

Section: Molecular Studies Of the Genetic Factors In Adult Migrainementioning

confidence: 42%

Genetic risk factors in primary paediatric versus adult headache: complexities and problematics

et al. 2005

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IntroductionRecurring primary headaches, such as migraine or tension-type, are common during childhood (2.5%) and adolescence (15%) [1]. However, while ever increasing evidence shows that migraine is a complex neurovascular disorder with genetic factors playing a primary role in its aetiology, none of the genetic factors which have to date been shown to be linked to adult migraine susceptibility have been investigated in children, for whom primary headaches represent frequent causes for referral for neurologic assessment. In addition, while epidemiological, twin and family studies have revealed that approximately one-half of its variation is attributable to additive genes, with a negligible contribution of nonadditive genetic effects [2], the identification and validation of the underlying genetic risk factors poses enormous challenges even in adult migraine. The severity of migraine symptoms, such as the recurrence and duration of attacks and the age of onset, are variable among patients, thus rendering difficult both the definition of the appropriate phenotype as J Headache Pain (2005) Genetic polymorphisms have been evaluated in association studies, some of which have been suggested to be susceptibility markers for adult migraine. To date, however, none of the identified polymorphisms in adult migraine susceptibility have been investigated in children, raising the possibility that they may not be necessarily involved in paediatric migraine susceptibility. This paper reviews studies of the genetic basis of migraine and summarises our experience in genetic association studies in primary paediatric headache susceptibility.6:179-181 DOI 10.1007/s10194-005-0178-x Genetic risk factors in primary paediatric versus adult headache: complexities and problematics G E N E

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Arg506GIn Factor V Mutation (Factor V Leiden) in Patients with Ischaemic Cerebrovascular Disease and Survivors of Myocardial Infarction

Cited by 162 publications

References 11 publications

Screening for genetic and acquired thrombophilia in a cohort of young migrainous patients

Screening for genetic and acquired thrombophilia in a cohort of young migrainous patients

Heterogeneous ethnic distribution of the factor v leiden mutation

Genetic risk factors in primary paediatric versus adult headache: complexities and problematics

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