Prevalence of Factor V Leiden Mutation in Non-European Populations

Pepe, Guglielmina; Rickards, Olga; Vanegas, Olga Camacho; Brunelli, Tamara; Gori, Anna Maria; Giusti, Betti; Attanasio, Monica; Prisco, Domenico; Gensini, Gian Franco; Abbate, Rosanna

doi:10.1055/s-0038-1655963

Cited by 86 publications

(48 citation statements)

References 18 publications

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“…by guest www.bloodjournal.org From African American controls. [25][26][27] The frequency of heterozygosity for the HR2 haplotype among whites also was similar to other studies, [15][16][17] but HR2 heterozygosity was infrequent among African Americans. In a separate LITE study report, we observed a higher risk of VTE among African Americans compared to whites, 18 and given race differences in risk factors such as factor V Leiden, additional study of African American populations is needed.…”

Section: Descriptive Findingssupporting

confidence: 88%

A prospective study of venous thromboembolism in relation to factor V Leiden and related factors

Folsom

Cushman

Tsai

et al. 2002

Blood

127

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The aim of this study was to examine the occurrence of venous thromboembolism (VTE) in relation to factor V-related risk factors. Using a nested case-control design combining 2 population-based prospective studies, we measured factor V Leiden, HR2 haplotype, activated protein C (APC) resistance, and plasma factor V antigen in 335 participants who developed VTE during 8 years of follow-up and 688 controls. The overall odds ratio (OR) of VTE was 3.67 (95% CI, 2.20-6.12) in participants carrying factor V Leiden compared with noncarriers. APC resistance measured after predilution with factor V-deficient plasma conferred an OR of 2.58 (95% CI, 1.62-4.10). All 3 participants homozygous for the HR2 haplotype had a VTE, and the OR of VTE for homozygosity was estimated to be 5.5 (95% CI, 2.45-12.5). Carriers of the HR2 haplotype otherwise were not at increased risk of VTE overall (OR ‫؍‬ 1.05; 95% CI, 0.64-1.72), but double heterozygotes for HR2 and factor V Leiden carried an OR of idiopathic VTE of 16.3 (95% CI, 1.7-159) compared with noncarriers. Factor V antigen also was not associated with VTE overall, but for participants with the combination of high factor V antigen plus factor V Leiden the OR of idiopathic VTE was 11.5 (95% CI, 4.2-31.4). In the general population, APC resistance and factor V Leiden were important VTE risk factors; homozygosity for the HR2 haplotype may be a risk factor but was rare; otherwise, HR2 haplotype and factor V antigen were not risk factors except in carriers of factor V Leiden. (Blood. 2002;99:2720-2725

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Section: Descriptive Findingssupporting

confidence: 88%

A prospective study of venous thromboembolism in relation to factor V Leiden and related factors

Folsom

Cushman

Tsai

et al. 2002

Blood

127

View full text Add to dashboard Cite

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“…For this reason, determining the prevalence of the FVL mutation in different populations has become an important means of taking decisions about which subjects at risk for thrombosis should be stratified for the FVL mutation. The data of this study should be helpful in formulating decisions about screening for FVL in patients of different populations, including the Brazilian population, since the results strengthen the observation that FVL is not prevalent among non-Caucasians (Rees et al, 1995;Arruda et al, 1996;Dählback, 1997;Pepe et al, 1997).…”

Section: Resultssupporting

confidence: 66%

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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“…It is well known that the allele frequencies for the factor V G1691A or factor II G20210A variants differ among various ethnic groups [87][88][89][90][91] ; for example, the factor V G1691A and factor II G20210A polymorphisms are rarely observed in blacks and Asians. In children with first-episode stroke, the homozygous MTHFR C677T mutation has been shown to independently increase the risk of stroke.…”

Section: Kenet Et Al Thrombophilia and Childhood Stroke 1843mentioning

confidence: 99%

Impact of Thrombophilia on Risk of Arterial Ischemic Stroke or Cerebral Sinovenous Thrombosis in Neonates and Children

et al. 2010

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Background-The aim of this study was to estimate the impact of thrombophilia on risk of first childhood stroke through a meta-analysis of published observational studies. Methods and Results-A systematic search of electronic databases (Medline via PubMed, EMBASE, OVID, Web ofScience, The Cochrane Library) for studies published from 1970 to 2009 was conducted. Data on year of publication, study design, country of origin, number of patients/control subjects, ethnicity, stroke type (arterial ischemic stroke [AIS], cerebral venous sinus thrombosis [CSVT]) were abstracted. Publication bias indicator and heterogeneity across studies were evaluated, and summary odds ratios (ORs) and 95% confidence intervals (CIs) were calculated with fixed-effects or random-effects models. Twenty-two of 185 references met inclusion criteria. Thus, 1764 patients (arterial ischemic stroke [AIS], 1526; cerebral sinus venous thrombosis [CSVT], 238) and 2799 control subjects (neonate to 18 years of age) were enrolled. No significant heterogeneity was discerned across studies, and no publication bias was detected. A statistically significant association with first stroke was demonstrated for each thrombophilia trait evaluated, with no difference found between AIS and CSVT. Summary ORs (fixed-effects model) were as follows: antithrombin deficiency, 7.06 (95% CI, 2.44 to 22.42); protein C deficiency, 8.76 (95% CI, 4.53 to 16.96); protein S deficiency, 3.20 (95% CI, 1.22 to 8.40), factor V G1691A, 3.26 (95% CI, 2.59 to 4.10); factor II G20210A, 2.43 (95% CI, 1.67 to 3.51); MTHFR C677T (AIS), 1.58 (95% CI, 1.20 to 2.08); antiphospholipid antibodies (AIS) [CSVT]) is estimated to be between 2.6 and 6.4 per 100 000 per year, reflecting a trend toward a higher frequency in more current literature. 1-3 Underlying conditions in children with symptomatic cerebrovascular accidents include congenital heart malformations, hemolytic anemias, and collagen vascular diseases, as well as some rare inborn metabolic disorders. 4 In addition, risk factors include trauma and infectious diseases. Apart from acquired thrombophilic risk factors such as the presence of antiphospholipid antibodies, 5,6 inherited thrombophilia, particularly antithrombin, protein C, and protein S deficiency, variants of coagulation factor V (G1691A) and factor II (G20210A), and elevated lipoprotein(a), have been found in small case series and case-control studies to be associated with AIS or CSVT in infants and children. Furthermore, an association of the thermolabile MTHFR C677T genotype with stroke is controversial in both adults and children. 5353 In fact, the increased likelihood of having a blood clot in the vasculature is related to elevated homocysteine levels, and mutations in the MTHFR gene only exploit their effect by contributing to the elevated homocysteine plasma level. Because adequate folate levels essentially cancel out the impaired regulation of homocysteine induced by MTHFR mutations, not all people will develop high homocysteine levels. [53][54][55][56] , Editori...

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Prevalence of Factor V Leiden Mutation in Non-European Populations

Cited by 86 publications

References 18 publications

A prospective study of venous thromboembolism in relation to factor V Leiden and related factors

A prospective study of venous thromboembolism in relation to factor V Leiden and related factors

Heterogeneous ethnic distribution of the factor v leiden mutation

Impact of Thrombophilia on Risk of Arterial Ischemic Stroke or Cerebral Sinovenous Thrombosis in Neonates and Children

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