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[心房颤动的遗传基础——迈向精准医学之路]

[Genetic basis of atrial fibrillation-on the road to precision medicine].

作者信息

Kany Shinwan, Schnabel Renate B

机构信息

Klinik für Kardiologie, Universitäres Herz- und Gefäßzentrum Hamburg-Eppendorf, Universitätsklinikum Hamburg-Eppendorf, Martinistraße 52, 20251, Hamburg, Deutschland.

Standort Hamburg/Kiel/Lübeck, Deutsches Zentrum für Herz-Kreislauf-Forschung (DZHK), Hamburg, Deutschland.

出版信息

Herzschrittmacherther Elektrophysiol. 2024 Mar;35(1):3-8. doi: 10.1007/s00399-023-00974-z. Epub 2023 Nov 6.

Abstract

Atrial fibrillation (AF) is the most common cardiac arrhythmia and has complex genetic underpinnings. Despite advancements in treatment, mortality of AF patients remains high. This review discusses the genetic basis of AF and its implications for diagnosis and therapy. Although AF pathology has long been known to include a hereditary component, the first genes associated with AF were not identified until the early 2000s. Subsequent research with genome-wide association studies (GWAS) has implicated other genes and numerous genetic variants in AF. These studies have revealed nearly 140 different regions in the DNA with genome-wide significance associated with AF. In addition to common variants, rare variants with large effects have also been identified. The integration of these genetic findings into clinical practice holds promise for improving AF diagnosis and treatment, moving us closer to precision medicine. However, challenges remain, including the need for more diverse genetic data of non-European ancestry and improved genetic analyses of responses to AF therapy.

摘要

心房颤动(AF)是最常见的心律失常,具有复杂的遗传基础。尽管治疗取得了进展,但房颤患者的死亡率仍然很高。本综述讨论了房颤的遗传基础及其对诊断和治疗的影响。虽然长期以来已知房颤病理包括遗传成分,但直到21世纪初才确定了与房颤相关的首批基因。随后的全基因组关联研究(GWAS)表明,房颤还涉及其他基因和众多遗传变异。这些研究揭示了DNA中近140个与房颤具有全基因组意义的不同区域。除了常见变异外,还发现了具有重大影响的罕见变异。将这些遗传研究结果整合到临床实践中有望改善房颤的诊断和治疗,使我们更接近精准医学。然而,挑战依然存在,包括需要更多非欧洲血统的多样化遗传数据,以及改进对房颤治疗反应的遗传分析。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0b8c/10879292/54c2fe3288b5/399_2023_974_Fig1_HTML.jpg

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