Biomedical Research Centre, Universidad Autónoma de Bucaramanga, Colombia.
BMC Genet. 2010 Jun 20;11:54. doi: 10.1186/1471-2156-11-54.
Nitric oxide (NO) synthesized by endothelial cells is known to be a potent vasodilator. It has been suggested that polymorphisms in endothelial nitric oxide synthase (eNOS) can affect the response of the vascular endothelium to increased oxidative stress. The objective of the present study was to determine the presence of G894T (rs1799983), intron-4 (27-bp TR) and -T786C (rs2070744) polymorphisms in the eNOS gene among 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.
已知内皮细胞合成的一氧化氮(NO)是一种有效的血管扩张剂。有人提出内皮型一氧化氮合酶(eNOS)的多态性可能会影响血管内皮对氧化应激增加的反应。本研究的目的是确定哥伦比亚普通人群中 eNOS 基因 G894T(rs1799983)、内含子 4(27-bp TR)和-T786C(rs2070744)多态性的存在情况。
基因型和等位基因频率的分布存在显著差异。白色、黑色和混合人群在 27-bp TR-和 rs1799983 变异的 HW 平衡中,但黑色人群在 rs2070744 的 HW 不平衡中(p < 0.001)。rs1799983 多态性的等位基因“T”在白色人群中更为常见(26.5%),而 rs2070744 多态性的等位基因“C”在所有人群中具有相似的频率,27-bp TR 的等位基因 4a 在黑人群体中更为常见(26.2%)比其他的。当分析基因型时,也发现了类似的差异。
研究结果表明,eNOS 多态性在不同种族之间的分布存在显著差异。这些结果可以帮助理解不同种族之间 NO 生物利用度、心血管风险和对药物的反应的差异。