Low prevalence of Factor V Leiden and the prothrombin G20210A mutation in a healthy population from the central-south region of Chile

Palomo, Iván; Segovia, Fabian; Parra, Daniela; Alarcón, Marcelo; Rojas, Edgardo

doi:10.1590/s1516-84842009005000042

Cited by 6 publications

(9 citation statements)

References 20 publications

(26 reference statements)

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“…Similar to the frequency findings of this study, in Colombia, the FII G20212A mutation was not detected at all (0% frequency) and only 0.43% of the subjects in that study had the FV G1691A mutation (Torres et al, 2006). Likewise, in a study conducted in Chile (N = 1200), only 1% of the population had any variant alleles (Palomo et al, 2009). These variants are also rare in African, Chinese, and American Indian populations (Herrmann et al, 2004;Jun et al, 2006).…”

Section: Discussionsupporting

confidence: 84%

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: Discussionsupporting

confidence: 84%

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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“…In the study developed in Pernambuco, the genotypic frequency for the heterozygous genotype was 6%, contrasting with a higher frequency for the same genotype in the sample from São Paulo. The same study conducted in the central-south region of Chile with a non-native population showed a frequency of 1.33% for the same genotype (18) , hence a much lower frequency in comparison with our results.…”

Section: Resultscontrasting

confidence: 60%

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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“…In Greek bloods donors, the prevalence of FVL was 5%, which was observed only in heterozygous state [21]. In the central-south region of Chile, this frequency was 1.25% and was also restricted to heterozygous individuals [13].…”

Section: Discussionmentioning

confidence: 91%

“…Differences in the prevalence of FVL among various populations would suggest that this mutation arose in a single common ancestor 21,000-34,000 years ago after the separation of Mongols from Caucasian population [13].…”

Section: Discussionmentioning

confidence: 99%

Prevalence of factor V Leiden in south Tunisian blood donors

Maalej

Hadjkacem

Amor

et al. 2011

J Thromb Thrombolysis

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Venous thrombosis (VT) is a common disease with multifactorial pathogenesis. Factor V Leiden mutation (G1691A) (FVL) is the most common risk factor in venous thrombosis. The prevalence of FVL varies according to geography and ethnicity. Hence, in several countries there is a difference in the frequency of this mutation between the southern, central and north. In Tunisia, no data is available about prevalence of FVL mutation by geographical origin. For this reason, we sought the prevalence of FVL mutation in blood donor of south Tunisia population. FVL has been detected by APCR-test and confirmed by PCR-RFLP and sequencing. Two hundred fifty blood donors, different in age and sex were included in this study to determine the prevalence of FVL in blood donors. FVL mutation was found in 13.6% of the studied population. Thirty-one were heterozygous and three persons were homozygous with a rate of 12.4 and 1.2%, respectively. In conclusion, FVL mutation is very common in south Tunisian population.

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Low prevalence of Factor V Leiden and the prothrombin G20210A mutation in a healthy population from the central-south region of Chile

Abstract: Thrombosis is a result of the interaction between predisposing genetic polymorphisms Rev. Bras. Hematol. Hemoter. 2009;31(3):143-146.

Cited by 6 publications

References 20 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

Prevalence of factor V Leiden in south Tunisian blood donors

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