上皮细胞钠通道基因多态性与血压关系研究现状

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上皮细胞钠通道(ENaC)在维持远端肾单位对Na+的限速重吸收、体液平衡和血压的长期调节中有关键作用。ENaC3个亚单位基因共存在着数百个单核苷酸多态性(SNP),其中许多SNP与血压变化关系密切。Liddle综合征和假性Ⅰ型低醛固酮血症是显示ENaC基因功能改变能直接影响血压的有力证据。越来越多的研究显示,ENaC基因作为盐敏感基因,也是原发性高血压的重要候选基因之一。 Epithelial sodium channel (ENaC) plays a key role in the maintenance of distal nephron on rate-limiting resorption of Na +, body fluid balance and long-term regulation of blood pressure. Hundreds of single nucleotide polymorphisms (SNPs) co-exist in ENaC3 subunit genes, many of which are closely linked to changes in blood pressure. Liddle’s syndrome and hypoglycemic hypoalperformasemia are strong evidence that changes in ENaC function can directly affect blood pressure. More and more studies have shown that ENaC gene, as a salt sensitive gene, is also one of the important candidate genes of essential hypertension.
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