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努力实现心血管基因组学研究的公平性

Striving Towards Equity in Cardiovascular Genomics Research.

作者信息

Jurado Vélez Javier, Anderson Nekayla, Datcher Ivree, Foster Christy, Jackson Pamela, Hidalgo Bertha

机构信息

Marnix E Heersink School of Medicine, University of Alabama at Birmingham, Birmingham, AL, USA.

Department of Epidemiology, School of Public Health, University of Alabama at Birmingham, Birmingham, AL, USA.

出版信息

Curr Atheroscler Rep. 2025 Feb 18;27(1):34. doi: 10.1007/s11883-025-01277-z.


DOI:10.1007/s11883-025-01277-z
PMID:39964583
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11836143/
Abstract

PURPOSE OF REVIEW: Our review emphasizes recent advancements and persisting gaps in cardiovascular genomics, particularly highlighting how emerging studies involving underrepresented populations have uncovered new genetic variants associated with cardiovascular diseases. RECENT FINDINGS: Initiatives like the H3Africa project, the Million Veterans Program, and the All of Us Research Program are working to address this gap by focusing on underrepresented groups. Additionally, emerging research is centering on the interplay between genetic factors and socio-environmental determinants of health, which disproportionately impact marginalized communities. As cardiovascular genomics research grows, increasing the inclusion of underrepresented populations is essential for gaining a more comprehensive understanding of genetic variability. This will lead to more accurate and clinically meaningful strategies for preventing and treating cardiovascular diseases across all ancestral backgrounds and diverse populations.

摘要

综述目的:我们的综述强调了心血管基因组学领域的最新进展以及仍然存在的差距,特别强调了涉及代表性不足人群的新兴研究如何发现了与心血管疾病相关的新基因变异。 最新发现:诸如“非洲人类遗传与健康项目”(H3Africa)、“百万退伍军人计划”和“我们所有人研究计划”等项目正致力于通过关注代表性不足的群体来填补这一差距。此外,新兴研究聚焦于遗传因素与健康的社会环境决定因素之间的相互作用,这些因素对边缘化社区的影响尤为严重。随着心血管基因组学研究的发展,增加代表性不足人群的纳入对于更全面地了解基因变异性至关重要。这将带来更准确且具有临床意义的策略,以在所有祖先背景和不同人群中预防和治疗心血管疾病。

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本文引用的文献

[1]
Cardiovascular Risk Estimation and Stratification Among Individuals with Hypercholesterolemia.

Curr Atheroscler Rep. 2024-9

[2]
Advancing genomics to improve health equity.

Nat Genet. 2024-5

[3]
The Role of Genetics in Advancing Cardiometabolic Drug Development.

Curr Atheroscler Rep. 2024-5

[4]
The Inclusion of Underrepresented Populations in Cardiovascular Genetics and Epidemiology.

J Cardiovasc Dev Dis. 2024-2-5

[5]
Genomic data in the All of Us Research Program.

Nature. 2024-3

[6]
Global Burden of Cardiovascular Diseases and Risks, 1990-2022.

J Am Coll Cardiol. 2023-12-19

[7]
Representation of Race and Ethnicity in the Contemporary US Health Cohort All of Us Research Program.

JAMA Cardiol. 2023-9-1

[8]
ADAMTS7: a Novel Therapeutic Target in Atherosclerosis.

Curr Atheroscler Rep. 2023-8

[9]
Epigenetics of Early Cardiometabolic Disease: Mechanisms and Precision Medicine.

Circ Res. 2023-6-9

[10]
Clinical, technical, and environmental biases influencing equitable access to clinical genetics/genomics testing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).

Genet Med. 2023-6

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