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脯氨酰羧肽酶和糜酶基因多态性与汉族人群原发性高血压的相关性。

Association of polymorphisms in prolylcarboxypeptidase and chymase genes with essential hypertension in the Chinese Han population.

机构信息

Cell Biology and Genetics Department, Kunming Medical University, China.

出版信息

J Renin Angiotensin Aldosterone Syst. 2013 Sep;14(3):263-70. doi: 10.1177/1470320312448949. Epub 2012 Jun 7.

Abstract

INTRODUCTION

The prolylcarboxypeptidase (PRCP) gene encodes a membrane protein that acts on angiotensin II (Ang II) and kallikrein to release vasoactive peptides. The chymase (CMA1) gene is important for Ang II generation. Therefore, the two genes might be involved in the pathogenesis of essential hypertension (EH).

MATERIALS AND METHODS

Eleven tag single nucleotide polymorphisms (SNPs) in the PRCP gene and four tag SNPs and G-1903A (rs1800875) polymorphism in the CMA1 gene were genotyped in the Chinese Han population (n=1020) using a polymerase chain reaction-restriction fragment length polymorphism method.

RESULTS

In the PRCP gene, single site analyses indicated that the rs7104980 G allele was a susceptible factor for EH (adjusted odds ratio (OR)=1.98, 95% confidence interval (CI) 1.62-2.43, p=0.3×10(-10)). The protective effect of Hap3 GAGCACTAACA was observed without carrying the susceptible rs7104908 G allele (OR=0.67, 95% CI 0.56-0.81, p=0.3×10(-4)) by haplotype analyses. In the case of the CMA1 gene, no associations with EH were found through single site analyses. However, haplotype analyses showed that Hap16 TTTA significantly increased the risk of EH with OR=3.15 (p=0.0002) which may be driven by interaction with a nearby SNP combination.

CONCLUSIONS

The present results indicated PRCP rs7104980 can be considered as a marker for EH and Hap3 GAGCACTAACA (PRCP) and Hap16 TTTA (CMA1) might be associated with EH in Chinese Han population.

摘要

简介

脯氨酰羧肽酶(PRCP)基因编码一种膜蛋白,可作用于血管紧张素 II(Ang II)和激肽释放酶以释放血管活性肽。糜酶(CMA1)基因对 Ang II 的生成很重要。因此,这两个基因可能与原发性高血压(EH)的发病机制有关。

材料和方法

采用聚合酶链反应-限制性片段长度多态性方法,对中国汉族人群(n=1020)的 PRCP 基因 11 个标签单核苷酸多态性(SNP)和 CMA1 基因 4 个标签 SNP 和 G-1903A(rs1800875)多态性进行基因分型。

结果

在 PRCP 基因中,单点分析表明 rs7104980 G 等位基因是 EH 的易感因素(调整后的优势比(OR)=1.98,95%置信区间(CI)1.62-2.43,p=0.3×10(-10))。在没有携带易感 rs7104908 G 等位基因的情况下,Hap3 GAGCACTAACA 观察到保护作用(OR=0.67,95%CI 0.56-0.81,p=0.3×10(-4))。在 CMA1 基因中,单点分析未发现与 EH 相关。然而,单体型分析显示 Hap16 TTTA 显著增加了 EH 的风险,OR=3.15(p=0.0002),这可能是由与附近 SNP 组合的相互作用驱动的。

结论

本研究结果表明,PRCP rs7104980 可作为 EH 的标志物,Hap3 GAGCACTAACA(PRCP)和 Hap16 TTTA(CMA1)可能与中国汉族人群的 EH 相关。

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