Endothelial nitric oxide synthase polymorphism, nitric oxide production, salt sensitivity and cardiovascular risk factors in Hispanics
Endothelial nitric oxide synthase polymorphism, nitric oxide production, salt sensitivity and cardiovascular risk factors in Hispanics
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DOI：
10.1038/sj.jhh.1001801
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发表时间：
2005-03-01
影响因子：
2.7
通讯作者：
Cubeddu, LX
中科院分区：
文献类型：
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作者：
Hoffmann, IS;Tavares-Mordwinkin, R;Cubeddu, LX
内皮型一氧化氮合酶（eNOS）基因突变可能与一氧化氮（NO）产生异常和心血管疾病有关。在这项研究中，我们调查了两种eNOS多态性的患病率，外显子7上的Glu 298 Asp变体和内含子4上的4a/B可变数目串联重复序列（VNTR），以及它们与健康委内瑞拉人的血压（BP）、NO产生、盐敏感性和心血管危险因素的关系。这两种多态性在委内瑞拉人中的患病率与高加索人中的患病率相当，但与非洲裔美国人和日本人中的患病率显著不同。4a/B基因型与NO代谢物水平降低（降低25%）、限盐后血压降低幅度更大（9.0 vs 4.8 mmHg，P
Mutations in the endothelial nitric oxide synthase (eNOS) gene may be associated with abnormal nitric oxide (NO) production and cardiovascular diseases. In this study, we investigated the prevalence of two eNOS polymorphisms, the Glu298Asp variant on exon 7, and the 4a/b variable number of tandem repeats (VNTR) on intron 4, and their association with blood pressure (BP), NO production, salt sensitivity and cardiovascular risk factors in healthy Venezuelans. The prevalence of both polymorphisms in Venezuelans was comparable to that described for Caucasians, but significantly different from that known for African-Americans and Japanese. The 4a/b genotype was associated with reduced levels of NO metabolites (25% decrease), larger BP lowering in response to salt restriction (9.0 vs 4.8 mmHg, P