Department of Pharmacology, Faculty of Medicine of Ribeirao Preto, University of Sao Paulo, Ribeirao Preto, Sao Paulo, Brazil.
Nitric Oxide. 2013 Jan 15;28:33-8. doi: 10.1016/j.niox.2012.10.002. Epub 2012 Oct 13.
Haplotypes formed by clinically relevant polymorphisms in the endothelial nitric oxide synthase (eNOS) gene have been associated with variations in endogenous nitric oxide (NO) formation in white and black subjects. We examined whether further genetic variation and haplotypes of the eNOS gene, represented by the rs3918188, rs743506 and rs7830 tagSNPs (polymorphisms that represent the information of neighboring SNPs in linkage disequilibrium) affect endogenous NO formation in 181 healthy black subjects. We measured whole blood nitrite concentration as a marker of endogenous NO formation for each subject. We found that the heterozygotes CA for the tagSNP rs7830 (P=0.0278, OR=0.4839, CI 95% 0.2567-0.9121), as well as the haplotype "C-G-A" (P=0.0068), were more common in subjects with low circulating whole blood nitrite concentrations compared with subjects with high circulating whole blood nitrite concentrations, although the genotype finding is not significant after correction for multiple comparisons. These findings suggest that these tagSNPs of the eNOS gene and haplotypes are associated with low levels of nitric oxide production in blacks, and could be used as a marker of cardiovascular risk.
内皮型一氧化氮合酶（eNOS）基因中临床相关的多态性形成的单体型与白人和黑人内源性一氧化氮（NO）形成的变化有关。我们研究了 eNOS 基因的进一步遗传变异和单体型，由 rs3918188、rs743506 和 rs7830 标记 SNP（代表连锁不平衡中相邻 SNP 信息的多态性）代表，是否会影响 181 名健康黑人受试者内源性 NO 的形成。我们测量了每个受试者的全血亚硝酸盐浓度作为内源性 NO 形成的标志物。我们发现，标记 SNP rs7830 的杂合子 CA（P=0.0278，OR=0.4839，95%CI 0.2567-0.9121），以及单体型“C-G-A”（P=0.0068），在循环全血亚硝酸盐浓度低的受试者中比在循环全血亚硝酸盐浓度高的受试者中更为常见，尽管经过多次比较校正后，基因型发现并不显著。这些发现表明，eNOS 基因的这些标记 SNP 和单体型与黑人中一氧化氮产生水平低有关，并且可以用作心血管风险的标志物。
