Functional deletion mutation of the 5′-flanking region of type A human natriuretic peptide receptor gene and its association with essential hypertension and left ventricular hypertrophy in the Japanese
Functional deletion mutation of the 5′-flanking region of type A human natriuretic peptide receptor gene and its association with essential hypertension and left ventricular hypertrophy in the Japanese
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DOI：
10.1161/01.res.86.8.841
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发表时间：
2000-04-28
影响因子：
20.1
通讯作者：
Furuya, K
中科院分区：
文献类型：
--
作者：
Nakayama, T;Soma, M;Furuya, K
利钠肽（NP）家族参与血压和体液量的调节。我们分离了A型人类NP受体基因的5'侧区，并在该区域发现了插入/缺失突变。然后，我们评估了这种突变与原发性高血压（EH）之间是否存在遗传关联。缺失等位基因缺少8个核苷酸，改变了激活蛋白2 （AP-2）和Zeste转录因子的结合位点。我们对200名EH和200名正常血压（NT）个体进行了基因分型，发现9名受试者存在缺失（EH组8名，NT组1名）。9个个体均为杂合子。突变的NT受试者有左心室肥厚，但无高血压。缺失等位基因的转录活性为
The natriuretic peptide (NP) family is involved in the regulation of blood pressure and fluid volume. We isolated the 5'-flanking region of the type A human NP receptor gene and identified an insertion/deletion mutation in this region. We then assessed whether there is a genetic association between this mutation and essential hypertension (EH). The deletion allele lacks 8 nucleotides and alters binding sites for the activator protein-2 (AP-2) and Zeste transcriptional factors. We genotyped 200 EH and 200 normotensive (NT) individuals and found 9 subjects with the deletion (8 in the EH group and I in the NT group). All 9 individuals were heterozygous. The NT subject with the mutation had left ventricular hypertrophy without hypertension. Transcriptional activity of the deletion allele was