心房颤动的遗传学和药物遗传学

IF 8.4 1区 医学 Q1 CARDIAC & CARDIOVASCULAR SYSTEMS
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引用次数: 0

摘要

心房颤动(房颤)的遗传性已得到公认。过去十年间,全基因组关联研究和基于家族的研究揭示了心房颤动的遗传结构。然而,由于对遗传变异背后的致病机制了解不全面、对意义不确定的变异进行分类面临挑战以及现有疾病模型的局限性,这些遗传学发现的转化工作一直滞后。我们回顾了基础科学研究就房颤机制提供的机理见解、高通量 VUS 分类的最新进展以及用于开发房颤个性化疗法的生物工程心脏模型的进展。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Genetics and Pharmacogenetics of Atrial Fibrillation

Genetics and Pharmacogenetics of Atrial Fibrillation

The heritability of atrial fibrillation (AF) is well established. Over the last decade genetic architecture of AF has been unraveled by genome-wide association studies and family-based studies. However, the translation of these genetic discoveries has lagged owing to an incomplete understanding of the pathogenic mechanisms underlying the genetic variants, challenges in classifying variants of uncertain significance (VUS), and limitations of existing disease models. We review the mechanistic insight provided by basic science studies regarding AF mechanisms, recent developments in high-throughput classification of VUS, and advances in bioengineered cardiac models for developing personalized therapy for AF.

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来源期刊
JACC: Basic to Translational Science
JACC: Basic to Translational Science CARDIAC & CARDIOVASCULAR SYSTEMS-
CiteScore
14.20
自引率
1.00%
发文量
161
审稿时长
16 weeks
期刊介绍: JACC: Basic to Translational Science is an open access journal that is part of the renowned Journal of the American College of Cardiology (JACC). It focuses on advancing the field of Translational Cardiovascular Medicine and aims to accelerate the translation of new scientific discoveries into therapies that improve outcomes for patients with or at risk for Cardiovascular Disease. The journal covers thematic areas such as pre-clinical research, clinical trials, personalized medicine, novel drugs, devices, and biologics, proteomics, genomics, and metabolomics, as well as early phase clinical trial methodology.
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