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Medicine (Baltimore). 2021 Nov 19;100(46):e27836. doi: 10.1097/MD.0000000000027836.
2
NR3C2 genotype is associated with response to spironolactone in diastolic heart failure patients from the Aldo-DHF trial.NR3C2 基因型与 Aldo-DHF 试验中舒张性心力衰竭患者螺内酯反应相关。
Pharmacotherapy. 2021 Dec;41(12):978-987. doi: 10.1002/phar.2626. Epub 2021 Oct 12.
3
Current concepts and molecular mechanisms in pharmacogenetics of essential hypertension.原发性高血压的药物遗传学的当前概念和分子机制。
Indian J Pharmacol. 2021 Jul-Aug;53(4):301-309. doi: 10.4103/ijp.IJP_593_19.
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Circ Rep. 2021 Feb 19;3(3):161-169. doi: 10.1253/circrep.CR-20-0096.
5
Haplotype-based association study between PRCP gene polymorphisms and essential hypertension in Hani minority group from a remote region of China.基于单体型的 PRCP 基因多态性与中国偏远地区哈尼族原发性高血压的关联研究。
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9
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探究基因多态性在高血压中的作用:来自约旦人群的证据。

Investigating the Role of Gene Polymorphisms in Hypertension: Evidence from the Jordanian Population.

作者信息

Al-Sanabra Ola, Al-Eitan Laith, Alasmar Maryam, Bani Khalid Islam

机构信息

Department of Medical Laboratory Sciences, Faculty of Allied Medical Sciences, Al-Balqa Applied University, Al-Salt, 19117, Jordan.

Department of Biotechnology and Genetic Engineering, Jordan University of Science and Technology, Irbid, 22110, Jordan.

出版信息

Vasc Health Risk Manag. 2025 Sep 3;21:705-717. doi: 10.2147/VHRM.S536434. eCollection 2025.

DOI:10.2147/VHRM.S536434
PMID:40922904
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12414466/
Abstract

PURPOSE

Hypertension (HTN) is a complex disorder regulated by multiple physiological systems. Each individual's underlying genetic architecture strongly influences inter-individual variability in therapeutic responses to HTN. Consequently, identifying candidate genes that contribute to the genetic basis of HTN remains a significant challenge. This study aims to investigate the association between eleven polymorphisms across eight candidate genes and HTN in the Jordanian population.

PATIENTS AND METHODS

This study included 200 patients with hypertension from Jordan and 224 healthy controls. Whole blood samples were collected from each participant, followed by the extraction of genomic DNA. The distribution of polymorphisms in the genes VEGFA, NAT2, TANC2, NR3C2, PROX1, PTGER3, TLE1, and PRKCA was investigated. Haplotype, genotype, and allele frequencies were analyzed using the SNPStats web tool.

RESULTS

In the Jordanian population, significant differences were observed in the frequency of the A/A genotype of rs699947 in VEGFA and the G/A genotype of rs2429427 in TANC2 (P = 0.006 and 0.042, respectively) between healthy individuals and those with hypertension. No significant associations were detected for the other SNPs analyzed with hypertension incidence. Additionally, significant differences were noted in the codominant and recessive models of VEGFA rs699947, the recessive model of NAT2 rs1041983, the dominant and overdominant models of TANC2 rs2429427, and the overdominant model of NR3C2 rs5522 between the groups. Overall, the genotype distributions of the VEGFA and TANC2 genes differed significantly between healthy individuals and those with hypertension.

CONCLUSION

These findings highlight the potential of incorporating genetic profiling into clinical practice to enable more precise, genotype-guided hypertension management, paving the way for personalized therapeutic strategies in affected populations.

摘要

目的

高血压(HTN)是一种受多种生理系统调节的复杂疾病。每个人潜在的遗传结构强烈影响个体对高血压治疗反应的个体间差异。因此,确定导致高血压遗传基础的候选基因仍然是一项重大挑战。本研究旨在调查约旦人群中八个候选基因的11个多态性与高血压之间的关联。

患者与方法

本研究纳入了200名来自约旦的高血压患者和224名健康对照者。从每位参与者采集全血样本,随后提取基因组DNA。研究了VEGFA、NAT2、TANC2、NR3C2、PROX1、PTGER3、TLE1和PRKCA基因中多态性的分布。使用SNPStats网络工具分析单倍型、基因型和等位基因频率。

结果

在约旦人群中,健康个体与高血压患者之间,VEGFA基因中rs699947的A/A基因型频率和TANC2基因中rs2429427的G/A基因型频率存在显著差异(分别为P = 0.006和0.042)。分析的其他单核苷酸多态性与高血压发病率未发现显著关联。此外,两组之间在VEGFA rs699947的共显性和隐性模型、NAT2 rs1041983的隐性模型、TANC2 rs2429427的显性和超显性模型以及NR3C2 rs5522的超显性模型中存在显著差异。总体而言,健康个体与高血压患者之间VEGFA和TANC2基因的基因型分布存在显著差异。

结论

这些发现突出了将基因谱分析纳入临床实践以实现更精确的、基因型指导的高血压管理的潜力,为受影响人群的个性化治疗策略铺平了道路。