Prevalence of hereditary risk factors for thrombophilia in Belém, Brazilian Amazon

Araújo, Astolfo Gomes de Mello; Tavella, Marli Haydee; Hamoy, Igor; Guerreiro, João Farias

doi:10.1590/s1415-47572006000100007

Cited by 8 publications

(7 citation statements)

References 18 publications

(7 reference statements)

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“…Thus, considerable heterogeneity is expected in the frequency distribution of genetic variants within Brazilian territory. For example, while in a northern Brazilian population the frequency of the FV G1691A and FII G20212A variants was 1.6 (P = 0.248) and 0.8% (P = 0.5), respectively, (Yoshioka et al, 2006) same variants was 4.8 (P = 0.029) and 2% (P = 0.123) (Stur et al, 2012). The former northern findings did not differ significantly from the frequencies found in this study.…”

Section: Discussioncontrasting

confidence: 60%

Prevalence of variants that confer risk for venous thromboembolism in an elderly population of northeastern Brazil

Ferreira-Fernandes

Costa²,

Fernandes³

et al. 2013

Genet. Mol. Res.

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ABSTRACT. Venous thromboembolism (VTE) is an important cause of morbidity and mortality stemming from cardiovascular disease. It is a multifactorial disease caused by a combination of acquired risk factors, of which advanced age is the most significant, and genetic factors, including the variants FV G1691A, FII G20210A, and MTHFR C677T. We estimated the prevalence of these genomic variants in an elderly population of northeastern Brazil. The study included 188 elderly persons (65-93 years), of which 68 (36.2%) were men and 120 (63.8%) were women. Variants were detected by polymerase chain reaction-3699 FV G1691A, FII G20210A, and MTHFR C677T in the elderly ©FUNPEC-RP www.funpecrp.com.br Genetics and Molecular Research 12 (3): 3698-3707 (2013) restriction fragment length polymorphism analysis, and subsequent electrophoresis on an 8% polyacrylamide gel stained with silver nitrate. The study population was in Hardy-Weinberg equilibrium for the 3 loci. Of the individuals analyzed, none carried variants of FV or FII (0%), and 24.7% had the MTHFR C677T polymorphism: 59 subjects (31.4%) were heterozygous (CT) and 17 subjects (9%) were homozygous (TT). Based on the analysis of these particular genes, we conclude that the study population does not present an increased risk for the development of VTE. Faced with a growing aging population worldwide, similar studies in other countries will help in the prevention of VTE in older individuals.

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Section: Discussioncontrasting

confidence: 60%

Prevalence of variants that confer risk for venous thromboembolism in an elderly population of northeastern Brazil

Ferreira-Fernandes

Costa²,

Fernandes³

et al. 2013

Genet. Mol. Res.

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“…The investigation conducted in Belém-PA demonstrated a frequency of 2% for heterozygous genotype (28) . In contrast, the present study showed a relatively higher frequency.…”

Section: Resultsmentioning

confidence: 94%

Analysis of factor V Leiden and prothrombin mutations in patients with suspected thrombophilia in São Paulo state-Brazil

Herkenhoff¹,

Gaulke²,

Remualdo

et al. 2013

J. Bras. Patol. Med. Lab.

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Introduction: Prothrombin (factor II) is a thrombin precursor, which induces fibrin formation. A mutation in the prothrombin gene (G20210A) has been described, which is directly associated with high prothrombin levels, hence thrombophilia. G1691A mutation in the factor V Leiden (FVL) gene occurs on exon 10, one of the main cleavage sites for protein C activation, resulting in protein alteration. Objective: To identify and estimate the genotype frequency of the three possible genotypes and the frequency of the two existing alleles in the FVL and prothrombin genes in patients with suspected thrombophilia in the state of Sao Paulo. This study may provide more literature and reference data on the incidence of prothrombin genotypes among individuals in Brazil. Material and methods: Analysis of point mutation by real time polymerase chain reaction (RT-PCR). Results: We obtained a total of 100 individuals, from which 94% had the homozygous G genotype. Only 6% had heterozygous genotype and there was no individual with the homozygous genotype A for FVL gene. As to the prothrombin gene, the frequency was 97% for homozygous G genotype and 3% for the heterozygous genotype. There was no patient with the homozygous A genotype. Conclusion: This study demonstrated that the genotype identification of these genes is advisable for patients with suspected thrombophilia in this region.

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“…Uma pesquisa realizada na população geral e nos casos de trombose generalizada profunda na Espanha mediterrânea mostrou frequência de 5,3% para genótipo heterozigoto nas duas populações (3) . Outro trabalho realizado em Belém-PA demonstrou frequência de 2% para genótipo heterozigoto (14) . Esse mesmo estudo realizado em Minas Gerais mostrou frequência de 5,9% para genótipo heterozigoto (5) .…”

Section: Resultsunclassified

Análise da mutação G20210A no gene da protrombina (fator II) em pacientes com suspeita de trombofilia no sul do Brasil

Herkenhoff¹,

Gaulke²,

Souza³

et al. 2012

J. Bras. Patol. Med. Lab.

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Prevalence of hereditary risk factors for thrombophilia in Belém, Brazilian Amazon

Cited by 8 publications

References 18 publications

Prevalence of variants that confer risk for venous thromboembolism in an elderly population of northeastern Brazil

Prevalence of variants that confer risk for venous thromboembolism in an elderly population of northeastern Brazil

Analysis of factor V Leiden and prothrombin mutations in patients with suspected thrombophilia in São Paulo state-Brazil

Análise da mutação G20210A no gene da protrombina (fator II) em pacientes com suspeita de trombofilia no sul do Brasil

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