TITLE:
Polymorphism in cardiovascular diseases (CVD) susceptibility loci in the azores islands (Portugal)
AUTHORS:
Mafalda Raposo, Paul Sousa, Stefan Nemeth, Ana Rita Couto, Margarida Rodrigues Santos, João Paulo Pinheiro, Maria João Peixoto, Christian Oberkanins, Nadiya Kazachkova, Teresa Cymbron, Manuela Lima, Jácome Bruges-Armas
KEYWORDS:
Atherosclerosis; Thrombosis; Cardiovascular Diseases; Susceptibility Genes; Genetic Risk; Poly-morphism
JOURNAL NAME:
Open Journal of Genetics,
Vol.1 No.3,
December
2,
2011
ABSTRACT: 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.