Variable number of tandem repeat of the 5′-flanking region of type-C human natriuretic peptide receptor gene influences blood pressure levels in obesity-associated hypertension
Variable number of tandem repeat of the 5′-flanking region of type-C human natriuretic peptide receptor gene influences blood pressure levels in obesity-associated hypertension
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DOI：
10.1291/hypres.27.711
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发表时间：
2004-10-01
影响因子：
5.4
通讯作者：
Matsumoto, K
中科院分区：
文献类型：
--
作者：
Aoi, N;Soma, M;Matsumoto, K
钠尿肽受体C（NPRC）基因是原发性高血压（EH）或肥胖高血压的候选易感基因，在调节血浆钠尿肽水平及其生物学效应中起关键作用。本研究的目的是在NPRC基因的5个侧翼区域发现新的遗传标记，并评估EH（包括肥胖患者的EH）的变异和表型之间的关系。利用聚合酶链反应-单链构象多态性（PCR-SSCP）分析，我们发现了一个新的位于主要转录起始位点上游4个碱基对（bp）的六核苷酸重复多态性。我们对242例高血压患者和212例正常血压对照者（NT）的可变数目串联重复序列（VNTR）进行了关联分析。虽然NT组和EH组VNTR的总体频率无显著差异，但5/6基因型EH患者的血压水平显著高于肥胖组。这表明NPRC基因5 '侧翼区的VNTR影响肥胖相关高血压的血压水平。
The gene for natriuretic peptides receptor C (NPRC), which is a candidate susceptibility gene for essential hypertension (EH) or obese hypertension, plays a key role in the regulation of plasma levels and biological effects of natriuretic peptides. The aims of the present study were to find new genetic markers in the 5, flanking region of the NPRC gene and to assess relationships between variants and phenotypes of EH, including EH in obese patients. Using polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) analysis, we discovered a novel six-nucleotide repeat polymorphism located 4 base pairs (bp) upstream of the major transcriptional initiation site. We performed association analysis of this variable number of tandem repeat (VNTR) in 242 EH patients and 212 normotensive controls (NT). Although no significant difference in overall frequency of VNTR was found between NT and EH groups, the blood pressure level of EH patients with the 5/6 genotype was significantly higher in obese subjects. This suggests that the VNTR of the 5'-flanking region of the NPRC gene influences blood pressure levels in obesity-associated hypertension.