Endothelial nitric oxide synthase gene intron 4, 27 bp repeat polymorphism and essential hypertension in the Kazakh Chinese population
Endothelial nitric oxide synthase gene intron 4, 27 bp repeat polymorphism and essential hypertension in the Kazakh Chinese population
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DOI：
10.1111/j.1745-7270.2007.00285.x
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发表时间：
2007-05-01
影响因子：
3.7
通讯作者：
Wang, Shuren
中科院分区：
文献类型：
--
作者：
Deng, Fengmei;Hu, Qinghua;Wang, Shuren
为探讨内皮型一氧化氮合酶（eNOS 4）基因第4内含子27 bp重复序列多态性与哈萨克族原发性高血压的关系，于2006年选取新疆沙湾地区布尔通古乡原发性高血压患者151例和健康对照138例。采用聚合酶链反应检测两组eNOS的多态性，并根据Hardy-Weinberg定律计算各组的基因型频率。将4个和5个串联的27 bp重复序列分别指定为“a”和“B”。结果表明：正常对照组eNOS 4基因B/B、B/a和a/a基因型频率分别为84.06%、15.22%和0.72%，高血压组分别为81.46%、15.89%和2.65%。“B”和“a”基因频率在对照组分别为91.67%和8.33%，在高血压组分别为89.40%和10.60%。血浆eNOS活性与eNOS基因型及等位基因无关。高血压组血浆eNOS活性明显低于对照组（P < 0.01）。提示eNOS 4基因多态性可能不是新疆哈萨克族人群原发性高血压的主要遗传易感因素。然而，血浆eNOS活性与原发性高血压之间的正相关已被揭示。
To investigate the relationship between 27 bp repeat polymorphism in intron 4 in the endothelial nitric oxide synthase (eNOS4) gene and essential hypertension in the Kazakh Chinese population, 151 patients with essential hypertension and 138 healthy people were selected from the Boertonggu countryside of Shawan region in the Xinjiang Uygur Autonomous Region of China in 2006. The polymorphism of eNOS in the two groups was detected with polymerase chain reaction assays and the genotype frequencies in each group were calculated following the Hardy-Weinberg law. Four and five tandem 27 bp repeats were designated as "a" and "b", respectively. It was found that the frequencies of b/b, b/a and a/a genotypes of the eNOS4 gene were 84.06%, 15.22% and 0.72% in the control group, and 81.46%, 15.89% and 2.65% in the hypertension group, respectively. The frequencies of gene "b" and "a" were 91.67% and 8.33% in the control group and 89.40% and 10.60% in the hypertension group, respectively. It was found that plasma eNOS activity was not associated with genotypes and alleles of eNOS gene. Plasma eNOS activity in the hypertension group was significantly decreased compared with the control group (P < 0.01). The results suggest that eNOS4 gene polymorphisms are unlikely to be the major genetic susceptibility factors for essential hypertension in the Xinjiang Kazakh population. However, a positive association between plasma eNOS activity and essential hypertension has been revealed.