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评估高血压儿科患者和年轻成年人中的48个单核苷酸多态性,并回顾原发性高血压的遗传背景。

Assessing 48 SNPs in Hypertensive Paediatric Patients and Young Adults with Review of Genetic Background of Essential Hypertension.

作者信息

Močnik Mirjam, Zagradišnik Boris, Marčun Varda Nataša

机构信息

Department of Paediatrics, University Medical Centre Maribor, Ljubljanska ulica 5, 2000 Maribor, Slovenia.

Laboratory of Medical Genetics, University Medical Centre Maribor, Ljubljanska ulica 5, 2000 Maribor, Slovenia.

出版信息

Children (Basel). 2022 Aug 21;9(8):1262. doi: 10.3390/children9081262.

Abstract

Essential hypertension in paediatric patients and young adults is rising, mostly on account of obesity-related hypertension. Clinically, the difference between obese hypertensive and non-obese hypertensive individuals is evident; yet, the pathophysiology of essential and obesity-related hypertension is multifactorial, complex and not fully understood. The aim of our study was to obtain a comprehensive view of the clinical differences between obesity-related hypertension and hypertension in non-obese paediatric patients and young adults and to do genetic tests to possibly highlight some of the pathophysiological differences with a review of their genetic backgrounds. Four hundred and thirty-six hypertensive paediatric patients and young adults were included in the study, and a study of 48 single-nucleotide polymorphisms, using Kompetitive allele specific PCR, was conducted. The subjects were divided into 243 non-obese participants with hypertension and 193 obese participants with hypertension. The data for the clinical comparison of both groups were collected as well. The differences in some clinical and biochemical parameters were confirmed. Genetic tests showed a significant difference in one allele frequency between both groups in five SNPs: rs6232, rs6235, rs12145833, rs59744560 and rs9568856. In rs6235 and rs59744560, a direct effect of different allele states could be implied. Obesity-related hypertension at a young age differs from essential hypertension in those non-obese. The reported genetic differences could be important in understanding the complex pathophysiology of early-onset obesity-related hypertension and should be further evaluated.

摘要

小儿患者和年轻人中的原发性高血压正在上升,主要是由于肥胖相关的高血压。临床上,肥胖型高血压患者和非肥胖型高血压患者之间的差异很明显;然而,原发性高血压和肥胖相关高血压的病理生理学是多因素的、复杂的,尚未完全了解。我们研究的目的是全面了解肥胖相关高血压与非肥胖小儿患者和年轻人高血压之间的临床差异,并进行基因检测,以通过回顾其遗传背景可能突出一些病理生理差异。本研究纳入了436例高血压小儿患者和年轻人,并使用竞争性等位基因特异性PCR对48个单核苷酸多态性进行了研究。受试者分为243例非肥胖高血压参与者和193例肥胖高血压参与者。同时收集了两组临床比较的数据。证实了一些临床和生化参数的差异。基因检测显示,在5个单核苷酸多态性(SNP)中,两组之间的一个等位基因频率存在显著差异:rs6232、rs6235、rs12145833、rs59744560和rs9568856。在rs6235和rs59744560中,可以推断不同等位基因状态的直接影响。年轻时的肥胖相关高血压与非肥胖者的原发性高血压不同。所报道的基因差异对于理解早发性肥胖相关高血压的复杂病理生理学可能很重要,应进一步评估。

相似文献

本文引用的文献

1
Obesity-Related Hypertension in Children.儿童肥胖相关性高血压
Front Pediatr. 2017 Sep 25;5:197. doi: 10.3389/fped.2017.00197. eCollection 2017.

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