Abstract

SERRANO, Norma Cecilia et al. Functional relevance of polymorphisms of endothelial nitric oxide synthase gene. Rev. Univ. Ind. Santander. Salud [online]. 2010, vol.42, n.1, pp.66-77. ISSN 0121-0807.

Nitric oxide (NO) plays an important role on vascular homeostasis regulation. NO endothelial production is regulated by endothelial nitric-oxide synthase (eNOS), reason for which genetic variations in NOS3 gene could influence NO production. Three polymorphisms (Glu298Asp, intron-4, and -786T>C) in NOS3 gene have been inconsistently associated with cardiovascular diseases (CVD). These genetic variables have been linked to diminishment mRNA, nitrites/nitrate low serum levels, and low endothelial reactivity. Despite wide research on these polymorphisms in CVD and several approaches to evaluate their functional role, not enough evidence is available to clarify their functional and causal participation over the disease. New strategies are required to select functional polymorphisms and to determine genotype-attributable risk over disease. In this paper, we review and discuss the possible effect on NOSe activity expression of these genetic polymorphisms with high clinical relevance in CVD diseases. Salud UIS 2010; 42: 66-77.

Keywords : Nitric oxide; nitric oxide synthase; Genetic Polymorphisms; single nucleotide polymorphism; cardiovascular disease.

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