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

Open Journal of Genetics 2011年第3期1卷 48-53页

作者： Mafalda Raposo Paul Sousa Stefan Nemeth Ana Rita Couto Margarida Rodrigues Santos Joao Paulo Pinheiro Maria Joao Peixoto Christian Oberkanins Nadiya Kazachkova teresa cymbron Manuela Lima Jacome Bruges-Armas Center of Research in Natural Resources(CIRN)and Department of Biology University of the AzoresPonta DelgadaPortugal Specialized Service of Epidemiology and Molecular Biology(SEEBMO) Hospital of Santo EspiritoAngra do HeroismoPortugal Institute for Molecular and Cell Biology(IBMC) University of PortoPortoPortugal ViennaLab Diagnostics GmbH ViennaAustria

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), reninangio-tensin 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.

关键词： Atherosclerosis Thrombosis Cardiovascular Diseases Susceptibility Genes Genetic Risk Poly-morphism

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