Frequency of eNOS polymorphisms in the Colombian general population

Genotype and allele frequencies showed significant differences in their distribution. White, black and mixed populations were in HW equilibrium for the variants in 27-bp TR- and rs1799983, but the black population was in HW disequilibrium for rs2070744 (p < 0.001). Allele "T" of rs1799983 polymorphisms was more common in the white population (26,5%) than the others, while allele "C" of rs2070744 polymorphisms had a similar frequency in all populations, and the allele 4a from 27-bp TR was more frequent in the black population (26,2%) than the others. Similar differences were found when genotypes were analyzed.The findings suggest that there is a substantial difference in the distribution of eNOS polymorphisms between different ethnic groups. These results could aid the understanding of inter-ethnic differences in NO bioavailability, cardiovascular risk, and response to drugs.Cardiovascular disease (CVD) comprises a group of complex diseases that are highly prevalent worldwide, but show marked variation according to ethno geographical distribution [1]. Environmental and genetic factors contribute to ethnic variation and susceptibility to CVD; interethnic differences in disease patterns can be due to environmental and/or genetic factors [2].Nitric oxide (NO) plays a pivotal role in the regulation of cardiovascular homeostasis. This highly reactive molecule is produced in endothelial cells and platelets by endothelial NO synthase (eNOS); it maintains basal vasodilator tone, inhibits platelet aggregation, attenuates leukocyte adhesion to the endothelium, and modulates smooth muscle proliferation [3]. Given the importance of NO for cardiovascular function, polymorphisms that alter eNOS activity or its regulation are likely candidates for studies examining the genetic variability of vascular disease [4]. Three clinically relevant polymorphisms in endothelial eNOS have been associated with many CVDs: single nucleotide polymorphisms (SNPs), one in the promoter region (T-786C