GWAS 突破:绘制从一个基因座到 393 个重大 CAD 关联的历程图。

IF 10.2 1区 医学 Q1 CARDIAC & CARDIOVASCULAR SYSTEMS
Rédouane Aherrahrou, Tobias Reinberger, Satwat Hashmi, Jeanette Erdmann
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引用次数: 0

摘要

冠状动脉疾病(CAD)对全球健康构成重大威胁,导致全球范围内的大量发病和死亡。在过去的 17 年中,人们通过全基因组关联研究(GWAS)对其进行了研究。随着样本量的增加、祖先背景的多样化以及与 CAD 风险相关的多个基因组区域的发现,这些研究取得了进展。在这篇综述中,我们全面概述了 CAD 的 GWAS,包括该疾病的基因构成信息以及种族多样性在这些研究中的重要性。我们还讨论了在 GWAS 基因位点中识别因果基因和变异体所面临的挑战,重点关注非编码区。此外,我们还重点介绍了与 CAD 相关的组织和细胞类型,并讨论了 GWAS 研究结果的临床意义,包括多基因风险评分、CAD 遗传学中的性别差异、个性化干预的种族方面以及 GWAS 指导下的药物开发。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
GWAS breakthroughs: mapping the journey from one locus to 393 significant coronary artery disease associations.

Coronary artery disease (CAD) poses a substantial threat to global health, leading to significant morbidity and mortality worldwide. It has a significant genetic component that has been studied through genome-wide association studies (GWAS) over the past 17 years. These studies have made progress with larger sample sizes, diverse ancestral backgrounds, and the discovery of multiple genomic regions related to CAD risk. In this review, we provide a comprehensive overview of CAD GWAS, including information about the genetic makeup of the disease and the importance of ethnic diversity in these studies. We also discuss challenges of identifying causal genes and variants within GWAS loci with a focus on non-coding regions. Additionally, we highlight tissues and cell types relevant to CAD, and discuss clinical implications of GWAS findings including polygenic risk scores, sex-specific differences in CAD genetics, ethnical aspects of personalized interventions, and GWAS guided drug development.

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来源期刊
Cardiovascular Research
Cardiovascular Research 医学-心血管系统
CiteScore
21.50
自引率
3.70%
发文量
547
审稿时长
1 months
期刊介绍: Cardiovascular Research Journal Overview: International journal of the European Society of Cardiology Focuses on basic and translational research in cardiology and cardiovascular biology Aims to enhance insight into cardiovascular disease mechanisms and innovation prospects Submission Criteria: Welcomes papers covering molecular, sub-cellular, cellular, organ, and organism levels Accepts clinical proof-of-concept and translational studies Manuscripts expected to provide significant contribution to cardiovascular biology and diseases
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