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两个非洲人群中导致原发性高血压发病的遗传因素

Genetic Factors Contributing to the Pathogenesis of Essential Hypertension in Two African Populations.

作者信息

Kalideen Kusha, Rayner Brian, Ramesar Raj

机构信息

UCT MRC Genomic and Precision Medicine Research Unit, Division of Human Genetics, Institute of Infectious Diseases and Molecular Medicine, University of Cape Town, Cape Town 7704, South Africa.

Division of Nephrology and Hypertension, University of Cape Town, Cape Town 7700, South Africa.

出版信息

J Pers Med. 2024 Mar 20;14(3):323. doi: 10.3390/jpm14030323.

DOI:10.3390/jpm14030323
PMID:38541065
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10971352/
Abstract

The African continent has the highest prevalence of hypertension globally, with South Africa reporting the highest prevalence in Southern Africa. While the influence of genetic variability in the pathogenesis of hypertension is well described internationally, limited reports are available for African populations. This study aimed to assess the association of genetic variants and essential hypertension in a cohort of two ethnic South African population groups. Two hundred and seventy-seven hypertensive and one hundred and seventy-six normotensive individuals were genotyped for 78 variants. Genotyping was performed using the Illumina GoldenGate Assay and allele-specific polymerase chain reaction. The association of variants was assessed using the Fisher Exact test under the additive and allelic genetic models, while multivariate logistic regression was used to predict the development of hypertension. Five variants ( rs179998, rs5051 and rs699, rs5186, and rs4646994) were significantly associated with essential hypertension in the cohort under study. Furthermore, rs5186 and rs699 were identified as risk factors for the development of hypertension in both ethnic groups. In two ethnic South African populations, an association was observed between renin-angiotensin-aldosterone system (RAAS)-related genes and the development of hypertension.

摘要

非洲大陆是全球高血压患病率最高的地区,南非是南部非洲高血压患病率最高的国家。虽然国际上对高血压发病机制中基因变异的影响已有充分描述,但针对非洲人群的相关报道有限。本研究旨在评估南非两个种族人群队列中基因变异与原发性高血压之间的关联。对277名高血压患者和176名血压正常者进行了78种变异的基因分型。基因分型采用Illumina GoldenGate检测法和等位基因特异性聚合酶链反应。在加性和等位基因遗传模型下,使用Fisher精确检验评估变异的关联性,同时采用多变量逻辑回归预测高血压的发生。在本研究队列中,有5种变异(rs179998、rs5051和rs699、rs5186以及rs4646994)与原发性高血压显著相关。此外,rs5186和rs699被确定为两个种族高血压发生的危险因素。在南非两个种族人群中,观察到肾素-血管紧张素-醛固酮系统(RAAS)相关基因与高血压的发生之间存在关联。