Thrombotic genetic risk factors and warfarin pharmacogenetic variants in São Miguel's healthy population (Azores)

Branco, Cláudia C.; Pereirinha, Tânia; Cabral, Rita; Pacheco, Paula; Mota-Vieira, Luísa

doi:10.1186/1477-9560-7-9

Cited by 7 publications

(5 citation statements)

References 41 publications

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“…In a previous study of three thrombotic risk loci in São Miguel Island (Azores), Branco and collaborators [36] found individuals with the F2 GA-MTHFR TT to represent only 0.4% of their sample while in our study this value was 3-fold higher (1.3%). On the other hand, only 0.6% of our subjects were F5 GA-MTHFR TT, as compared to 3.2% observed by Branco et al [36].…”

Section: Discussioncontrasting

confidence: 66%

“…Homozygosity or compound heterozygosity for the F5 and F2 risk alleles, as well as the presence of these mutations combined with the MTHFR 677TT genotype, were shown to be associated with a highly significant increase of the odds of presenting VTE [35]. In a previous study of three thrombotic risk loci in São Miguel Island (Azores), Branco and collaborators [36] found individuals with the F2 GA-MTHFR TT to represent only 0.4% of their sample while in our study this value was 3-fold higher (1.3%). On the other hand, only 0.6% of our subjects were F5 GA-MTHFR TT, as compared to 3.2% observed by Branco et al [36].…”

Section: Discussionmentioning

confidence: 94%

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Polymorphism in cardiovascular diseases (CVD) susceptibility loci in the azores islands (Portugal)

Raposo¹,

Sousa²,

Németh³

et al. 2011

OJGen

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Background: Atherosclerosis and thrombosis are the major manifestations underlying cardiovascular diseases (CVD), which are the leading cause of mortality and morbidity worldwide. Both result from an interaction between genetic and environmental risk factors. The goal of our study was to evaluate several polymorphisms identified as predisposing factors to atherosclerosis and thrombosis. Material and Methods: A series of 155 healthy unrelated individuals of Azorean origin were analyzed using the CVD StripAssay (ViennaLab Diagnostics, Austria) for the most established polymorphisms involved in blood coagulation (F2, F5, F13A1, FGB), fibrinolitic system (SERPINE1), platelet adhesion (ITGB3), homocysteine metabolism (MTHFR), reninangiotensin system (ACE) and lipid metabolism (APOE). Results: No significant differences were observed in allelic frequencies when comparing our data to mainland Portugal. Group stratification according to the number of "increased" risk alleles, demonstrated that 116/155 (75%) individuals belong to the moderate risk group (5 -10 risk alleles). Conclusions: Although acknowledging the fact that the allelic states at the analysed loci lack predictive value, the fact that a high frequency of individuals presents at least 5 risk alleles (124/155; 80%) is important for the establishment of the appropriate preventive measures in the Azorean population.

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Section: Discussioncontrasting

confidence: 66%

Section: Discussionmentioning

confidence: 94%

Polymorphism in cardiovascular diseases (CVD) susceptibility loci in the azores islands (Portugal)

Raposo¹,

Sousa²,

Németh³

et al. 2011

OJGen

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“…An MTHFR C677T-CT variant of the gene was identified. Although associated with an increased level of homocysteinemia in carriers, an allelic frequency of 41.68% has been reported in our resident population [ 8 ].…”

Section: Clinical Casementioning

confidence: 73%

Primary Iliac Venous Leiomyosarcoma: A Rare Cause of Deep Vein Thrombosis in a Young Patient

Oliveira

Dias²,

Lima³

et al. 2011

Case Reports in Medicine

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Introduction. Primary venous tumours are a rare cause of deep vein thrombosis. The authors present a case where the definitive diagnosis was delayed by inconclusive complementary imaging. Clinical Case. A thirty-seven-year-old female presented with an iliofemoral venous thrombosis of the right lower limb. The patient had presented with an episode of femoral-popliteal vein thrombosis five months before and was currently under anticoagulation. Phlegmasia alba dolens installed progressively, as thrombus rapidly extended to the inferior vena cava despite systemic thrombolysis and anticoagulation. Diagnostic imaging failed to identify the underlying aetiology of the deep vein thrombosis. The definitive diagnosis of primary venous leiomyosarcoma was reached by a subcutaneous abdominal wall nodule biopsy. Conclusion. Primary venous leiomyosarcoma of the iliac vein is a rare cause of deep vein thrombosis, which must be considered in young patients with recurrent or refractory to treatment deep vein thrombosis.

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“…According to some studies, MTHFR activity falls by 40–50% and a biochemical profile similar to that in homozygous carriers of the 677T allele is observed in compound heterozygous individuals [ 33 ]. The lowest frequency of the 1298C allele was detected in residents of Senegal (4%), whereas the highest frequency was detected in the Israeli and New Guinean populations (41%) [ 34 , 35 ]. In Russians, the frequency of this allele varies from 24 to 38% [ 31 ].…”

Section: Resultsmentioning

confidence: 99%

The Genetic Diversity and Structure of Linkage Disequilibrium of the MTHFR Gene in Populations of Northern Eurasia

et al. 2012

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The structure of the haplotypes and linkage disequilibrium (LD) of the methylenetetrahydrofolate reductase gene (MTHFR) in 9 population groups from Northern Eurasia and populations of the international HapMap project was investigated in the present study. The data suggest that the architecture of LD in the human genome is largely determined by the evolutionary history of populations; however, the results of phylogenetic and haplotype analyses seems to suggest that in fact there may be a common “old” mechanism for the formation of certain patterns of LD. Variability in the structure of LD and the level of diversity of MTHFRhaplotypes cause a certain set of tagSNPs with an established prognostic significance for each population. In our opinion, the results obtained in the present study are of considerable interest for understanding multiple genetic phenomena: namely, the association of interpopulation differences in the patterns of LD with structures possessing a genetic susceptibility to complex diseases, and the functional significance of the pleiotropicMTHFR gene effect. Summarizing the results of this study, a conclusion can be made that the genetic variability analysis with emphasis on the structure of LD in human populations is a powerful tool that can make a significant contribution to such areas of biomedical science as human evolutionary biology, functional genomics, genetics of complex diseases, and pharmacogenomics.

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Thrombotic genetic risk factors and warfarin pharmacogenetic variants in São Miguel's healthy population (Azores)

Cited by 7 publications

References 41 publications

Polymorphism in cardiovascular diseases (CVD) susceptibility loci in the azores islands (Portugal)

Polymorphism in cardiovascular diseases (CVD) susceptibility loci in the azores islands (Portugal)

Primary Iliac Venous Leiomyosarcoma: A Rare Cause of Deep Vein Thrombosis in a Young Patient

The Genetic Diversity and Structure of Linkage Disequilibrium of the MTHFR Gene in Populations of Northern Eurasia

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