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Annual for Hospital Pharmacy

Genetic polymorphisms predisposing to common cardiovascular diseases

Olga Antonova, Sofia Todorova


Cardiovascular disease (CVD) is a major health problem worldwide and is a leading cause of disability and mortality. They include coronary heart disease, cerebrovascular disease, peripheral vascular disease and arterial atherosclerosis. In the most cases, CVDs are polygenic multifactorial socially significant diseases and result from the impact of predisposing environmental factors, mainly related to unhealthy lifestyles, acting on a sensitive genetic terrain. This is due to specific genetic variants that control the regulation of the renin-angiotensin-aldosterone system (RAAS), lipid metabolism, caffeine metabolism, omega-3 fatty acids, homocysteine, etc. Such common genetic variants are designated as SNPs (Single Nucleotide Polymorphisms). The more predisposing variants an individual carries, the more pronounced the genetic risk of developing CVD. Such genetic variations are: variations in the ACE (insertion/deletion—I/D) and AGT (C-344T) genes of the RAAS; variations in the ApoE gene (Apo E2, E3 and E4) associated with cholesterol metabolism, genetic polymorphism C3175G in the gene encoding apolipoprotein C—APOC3; CETP gene with polymorphism rs708272, 279 G>A, associated with high-density cholesterol metabolism; lipoprotein lipase (LPL) gene and polymorphism 1595C>G (Ser447X); a polymorphism in CYP1A2 associated with caffeine sensitivity; polymorphism rs174537 G>T in FADS1 involved in polyunsaturated fatty acid metabolism, and polymorphisms in MTHFR (677 C>T and 1298 A>C) associated with homocysteine metabolism.


CVD, gene, salt, cholesterol, homocystein

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