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血压调节的基因组学见解:探索约旦高血压患者的离子通道和转运体基因变异

Genomic Insights into Blood Pressure Regulation: Exploring Ion Channel and Transporter Gene Variations in Jordanian Hypertensive Individuals.

作者信息

Alghamdi Mansour Abdullah, Al-Eitan Laith, Ibdah Rasheed, Bani Khalid Islam, Darabseh Salma, Alasmar Maryam, Ataa Asaad

机构信息

Department of Anatomy, College of Medicine, King Khalid University, Abha 62529, Saudi Arabia.

Genomics and Personalized Medicine Unit, College of Medicine, King Khalid University, Abha 62529, Saudi Arabia.

出版信息

Medicina (Kaunas). 2025 Jan 17;61(1):156. doi: 10.3390/medicina61010156.

Abstract

: Hypertension (HTN) constitutes a significant global health burden, yet the specific genetic variant responsible for blood pressure regulation remains elusive. This study investigates the genetic basis of hypertension in the Jordanian population, focusing on gene variants related to ion channels and transporters, including , , , , , , , , and . : This research involved 200 hypertensive patients and 224 healthy controls. Whole blood samples were collected from each participant, and genomic DNA was extracted. The genetic distribution of the polymorphisms was analyzed. The haplotype frequencies were investigated using the SNPStats web tool, and the genotype and allele frequencies of the studied variants were assessed using the χ test. : Sixteen single nucleotide polymorphisms (SNPs) from nine genes were evaluated. A significant association was observed between the rs880054 variant of the gene and hypertension susceptibility, with the T allele elevating the risk of hypertension. This association remained important in the codominant model ( = 0.049) and the dominant model ( = 0.029). In addition, rs880054 was associated with clinical characteristics such as triglyceride levels and cerebrovascular accidents (-value > 0.05). : Our findings reveal a significant link between the rs880054 SNP and an increased hypertension risk, suggesting that variations in may be crucial in regulating blood pressure. This study provides new insights into the genetic factors contributing to hypertension and highlights the potential of WNK1 as a target for future therapeutic interventions.

摘要

高血压(HTN)是一项重大的全球健康负担,但负责血压调节的特定基因变异仍不清楚。本研究调查约旦人群中高血压的遗传基础,重点关注与离子通道和转运体相关的基因变异,包括[此处基因名称缺失]、[此处基因名称缺失]、[此处基因名称缺失]、[此处基因名称缺失]、[此处基因名称缺失]、[此处基因名称缺失]、[此处基因名称缺失]、[此处基因名称缺失]和[此处基因名称缺失]。本研究纳入了200例高血压患者和224例健康对照。从每位参与者采集全血样本,并提取基因组DNA。分析多态性的遗传分布。使用SNPStats网络工具研究单倍型频率,并使用χ检验评估所研究变异的基因型和等位基因频率。评估了来自9个基因的16个单核苷酸多态性(SNP)。观察到[此处基因名称缺失]基因的rs880054变异与高血压易感性之间存在显著关联,T等位基因增加了高血压风险。这种关联在共显性模型(P = 0.049)和显性模型(P = 0.029)中仍然显著。此外,rs880054与甘油三酯水平和脑血管意外等临床特征相关(P值>0.05)。我们的研究结果揭示了rs880054 SNP与高血压风险增加之间的显著联系,表明[此处基因名称缺失]的变异可能在调节血压中起关键作用。本研究为导致高血压的遗传因素提供了新的见解,并突出了WNK1作为未来治疗干预靶点的潜力。

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