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中国北方汉族人群中肾素基因多态性基于单倍型与原发性高血压的关联研究

Haplotype-based association of renin gene polymorphisms with essential hypertension in Han population of northern china.

作者信息

Zhang Guoping, Li Xueyan, Zhang Keyong, Zhao Jingbo, Qiu Changchun

机构信息

1 Department of Epidemiology, Harbin Medical University, China.

2 Institute of Polygenic Disease, Qiqihar Medical University, China.

出版信息

J Renin Angiotensin Aldosterone Syst. 2017 Oct-Dec;18(4):1470320317744917. doi: 10.1177/1470320317744917.

Abstract

INTRODUCTION

The renin gene has been suggested as a good candidate in the study of genetic mechanism of essential hypertension. However, studies on the contribution of renin gene polymorphisms to essential hypertension, have not had consistent outcomes. The purpose of the present study is to explore the association of renin gene polymorphisms with essential hypertension in the Han population of northern China.

METHODS

A case-control study was conducted among 3090 Han farmers (1533 essential hypertension patients and 1557 normotensives). Genotyping was performed by polymerase chain reaction-restriction fragment length polymorphism and polymerase chain reaction-sequencing.

RESULTS

The genotypic and allelic distributions of rs2368564 in essential hypertension and control was significant statistically ( p<0.001). The allelic distribution of rs10900557 showed marginal statistical significance ( p=0.048). There were no significant differences in other genotypic and allelic distributions ( p>0.05). In the haplotypes comprised by the six single-nucleotide polymorphisms, there were differences in the distribution of haplotypes A-T-C-G-C-A, A-T-C-G-C-G, G-C-T-G-T-A and G-C-T-G-T-G in both groups, and their differences reached to significant levels, respectively. After having corrected for false discovery rate, this association still remained significant.

CONCLUSIONS

The current study provides evidence for a possible association of renin gene polymorphisms with essential hypertension in a Han population of northern China.

摘要

引言

肾素基因被认为是原发性高血压遗传机制研究中的一个良好候选基因。然而,关于肾素基因多态性对原发性高血压的影响的研究结果并不一致。本研究的目的是探讨肾素基因多态性与中国北方汉族人群原发性高血压之间的关联。

方法

对3090名汉族农民(1533名原发性高血压患者和1557名血压正常者)进行了病例对照研究。采用聚合酶链反应-限制性片段长度多态性和聚合酶链反应-测序进行基因分型。

结果

rs2368564在原发性高血压组和对照组中的基因型和等位基因分布具有统计学意义(p<0.001)。rs10900557的等位基因分布具有边缘统计学意义(p=0.048)。其他基因型和等位基因分布无显著差异(p>0.05)。在由六个单核苷酸多态性组成的单倍型中,两组中A-T-C-G-C-A、A-T-C-G-C-G、G-C-T-G-T-A和G-C-T-G-T-G单倍型的分布存在差异,且差异均达到显著水平。在对错误发现率进行校正后,这种关联仍然显著。

结论

本研究为肾素基因多态性与中国北方汉族人群原发性高血压之间可能存在的关联提供了证据。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9a91/5843929/e3eff66a2d95/10.1177_1470320317744917-fig1.jpg

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