Very Low Incidence of Arg506 → Gin Mutation in the Factor V Gene among the Amazonian Indians and the Brazilian Black Population

Arruda, Valder R.; Zuben, P M von; Soares, M. C. P.; Menezes, Raimundo Camurça de; Annichino‐Bizzacchi, Joyce Maria; Costa, Fernando Ferreira

doi:10.1055/s-0038-1650382

Cited by 17 publications

(15 citation statements)

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“…Since virtually no racial admixture was expected to exist in this sample, it may be considered highly representative of a native Black population. Hence, our data provide further evidence that the FVL mutation is absent among Blacks, and suggest that the finding of this mutation among Afro-Americans in previous studies (Arruda et al, 1996;Gregg et al, 1997) might well be the result of miscegenation with Whites. The prevalence of venous thromboembolism was claimed to be lower among native Africans compared to other human populations (Thomas et al, 1960;Gore et al, 1964;WHO, 1993WHO, -1994.…”

Section: Resultssupporting

confidence: 74%

“…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%

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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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Section: Resultssupporting

confidence: 74%

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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“…In the Brazilian population, a higher prevalence of factor V Leiden has been detected in Caucasians, and it has rarely been detected in black people and Indians. 29 The mean number of pregnancies was higher in Group 1. This result was expected, since the definition of RSA includes women with at least three spontaneous abortions.…”

Section: Discussionmentioning

confidence: 80%

Association of anticardiolipin antibody and C677T in methylenetetrahydrofolate reductase mutation in women with recurrent spontaneous abortions: a new path to thrombophilia?

et al. 2005

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RESULTS: ACA was detected in 11 women with RSA and one fertile woman. Heterozygous C677T was detected in 59 women with RSA and 35 fertile women. Concomitant presence of ACA and C677T was found in eight women with RSA and no fertile women (p < 0.01). DISCUSSION:The meaning of the association between C677T mutation in the MTHFR gene and ACA is still not clear. It is possible that an inherited factor that alone would not strongly predispose a woman to thrombosis could, when associated with an acquired factor, start the process and increase the likelihood of thrombosis expression.CONCLUSIONS: ACA and C677T in the MTHFR gene are statistically associated with RSA. The association of these two conditions is a new fi nding in thrombogenic factors and RSA.

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“…These groups were selected as part of a research program for the evaluation of the inherited risk factors for vascular disease carried out at the State University of Campinas [5].…”

Section: Subjectsmentioning

confidence: 99%

Determination of the Allele Frequencies of Three Polymorphisms in the Promoter Region of the Human Protein C Gene in Three Brazilian Ethnic Groups

Mendes

Hackel²,

Arruda³

et al. 1999

Hum Hered

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The frequencies of three polymorphisms in the promoter region of the human protein C gene have been determined in three ethnic groups of the Brazilian population. The allele frequencies observed in south-eastern Brazilian Caucasians and Blacks were similar to the values obtained for the Dutch population and were different from those observed in Amazonian Indians living in the north of the country. The most frequent genotypic combination found in this latter group was the CC/GG/AA genotype, which is very rare among Caucasians. The complete heterozygous genotype CT/AG/At̲ was the most frequent both in Brazilian Caucasians and Blacks. Among 27 possible genotypic combinations, 21 were found in the Caucasian group and 15 in Blacks, revealing a high degree of genetic diversity in south-eastern Brazilian populations.

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Very Low Incidence of Arg506 → Gin Mutation in the Factor V Gene among the Amazonian Indians and the Brazilian Black Population

Cited by 17 publications

References 0 publications

Heterogeneous ethnic distribution of the factor v leiden mutation

Heterogeneous ethnic distribution of the factor v leiden mutation

Association of anticardiolipin antibody and C677T in methylenetetrahydrofolate reductase mutation in women with recurrent spontaneous abortions: a new path to thrombophilia?

Determination of the Allele Frequencies of Three Polymorphisms in the Promoter Region of the Human Protein C Gene in Three Brazilian Ethnic Groups

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