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当代高血压遗传学影响的研究方法。

Contemporary approaches to genetic influences on hypertension.

机构信息

Department of Medicine, Institute for Genomic Medicine, University of California at San Diego, VA San Diego Healthcare System, La Jolla, California 92093-0838, USA.

出版信息

Curr Opin Nephrol Hypertens. 2011 Jan;20(1):23-30. doi: 10.1097/MNH.0b013e3283406ecf.

Abstract

PURPOSE OF REVIEW

Essential hypertension has long been considered to be primarily 'genetic,' though recent studies have only revealed minor contributions to blood pressure. Technology has advanced tremendously in the recent years, with much focus on DNA studies utilizing both candidate gene and genome-wide association studies. However, many new areas that need continued investigation have arisen.

RECENT FINDINGS

In addition to DNA studies, genetic studies are actively pursuing previously unexplored areas of potential variation, such as that which occurs posttranscriptionally in RNA and posttranslationally in protein structure. Advances have also been made in animal models and systems biology for large-scale integrative approaches. However, many other areas need continued investigation in the genetics of hypertension, including improved phenotyping and trait definition, gene-by-gene interactions (epistasis), and gene-by-environment interactions. 'Next generation' sequencing will assist researchers in performing more extensive genetic studies even more quickly, especially on unusual (rare) genetic variants.

SUMMARY

Hypertension appears to have many genetic contributions from each regulatory area ranging from DNA to RNA to protein to postprotein to interactive influences of the environment on genes. New technologies have enabled such research to advance in the recent years. However, for this complex trait of hypertension, continued efforts must progress in all of these areas as well as in increased modeling and sequencing, so that the knowledge may be united for a comprehensive understanding of this common disease, such that diagnosis and treatment options in hypertensive patients and those at risk are facilitated.

摘要

目的综述

原发性高血压长期以来被认为主要是“遗传性的”,尽管最近的研究仅揭示了对血压的微小贡献。近年来,技术有了巨大的进步,许多研究都集中在利用候选基因和全基因组关联研究的 DNA 研究上。然而,许多新的领域需要继续研究。

最近的发现

除了 DNA 研究,遗传研究还积极探索以前未探索的潜在变异区域,例如 RNA 转录后和蛋白质结构翻译后发生的区域。在动物模型和系统生物学方面,也为大规模综合方法取得了进展。然而,高血压遗传学的许多其他领域仍需要进一步研究,包括改进表型和特征定义、基因间相互作用(上位性)以及基因-环境相互作用。“下一代”测序将帮助研究人员更快速地进行更广泛的遗传研究,特别是针对不常见(罕见)遗传变异。

总结

高血压似乎有许多遗传贡献,从 DNA 到 RNA 再到蛋白质,再到蛋白质后,再到环境对基因的相互影响。新技术使近年来的研究能够取得进展。然而,对于高血压这种复杂的特征,所有这些领域以及增加的建模和测序都必须继续努力,以便将知识统一起来,全面了解这种常见疾病,从而为高血压患者和高危人群提供更方便的诊断和治疗选择。

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