心血管基因组学研究中种族差异的传播。
The Propagation of Racial Disparities in Cardiovascular Genomics Research.
机构信息
VA Palo Alto Health Care system (S.L.C., T.L.A., C.T.).
Department of Medicine, Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA (S.L.C., T.L.A., C.T.).
出版信息
Circ Genom Precis Med. 2021 Oct;14(5):e003178. doi: 10.1161/CIRCGEN.121.003178. Epub 2021 Aug 31.
Abstract
Genomics research has improved our understanding of the genetic basis for human traits and diseases. This progress is now being translated into clinical care as we move toward a future of precision medicine. Many hope that expanded use of genomic testing will improve disease screening, diagnosis, risk stratification, and treatment. In many respects, cardiovascular medicine is leading this charge. However, most cardiovascular genomics research has been conducted in populations of primarily European ancestry. This bias has critical downstream effects. Here, we review the current disparities in cardiovascular genomics research, and we outline how these disparities propagate forward through all phases of the translational pipeline. If not adequately addressed, biases in genomics research will further compound the existing health disparities that face underrepresented and marginalized populations.
摘要
基因组学研究提高了我们对人类特征和疾病遗传基础的理解。随着我们迈向精准医学的未来，这一进展正在转化为临床护理。许多人希望扩大基因组检测的使用将改善疾病筛查、诊断、风险分层和治疗。在许多方面，心血管医学正在引领这一潮流。然而，大多数心血管基因组学研究都是在主要为欧洲血统的人群中进行的。这种偏见有严重的下游影响。在这里，我们回顾了心血管基因组学研究中目前存在的差异，并概述了这些差异如何通过转化研究的所有阶段向前传播。如果不能得到妥善解决，基因组学研究中的偏见将进一步加剧代表性不足和边缘化人群所面临的现有健康差异。
相似文献
1
The Propagation of Racial Disparities in Cardiovascular Genomics Research.心血管基因组学研究中种族差异的传播。
Circ Genom Precis Med. 2021 Oct;14(5):e003178. doi: 10.1161/CIRCGEN.121.003178. Epub 2021 Aug 31.
2
Emerging Concepts in Precision Medicine and Cardiovascular Diseases in Racial and Ethnic Minority Populations.精准医学与少数族裔人群心血管疾病的新观念。
Circ Res. 2019 Jun 21;125(1):7-13. doi: 10.1161/CIRCRESAHA.119.314970. Epub 2019 Jun 20.
3
Advancing genomic research and reducing health disparities: what can nurse scholars do?推进基因组学研究和减少健康差距：护理学者能做什么？
J Nurs Scholarsh. 2013 Jun;45(2):202-9. doi: 10.1111/j.1547-5069.2012.01482.x. Epub 2013 Mar 1.
4
How Can Law Support Development of Genomics and Precision Medicine to Advance Health Equity and Reduce Disparities?法律如何支持基因组学和精准医学的发展，以促进健康公平，减少差距？
Ethn Dis. 2019 Dec 12;29(Suppl 3):623-628. doi: 10.18865/ed.29.S3.623. eCollection 2019.
5
Challenges and disparities in the application of personalized genomic medicine to populations with African ancestry.应用个性化基因组医学于非裔人群所面临的挑战和差异。
Nat Commun. 2016 Oct 11;7:12521. doi: 10.1038/ncomms12521.
6
The contribution of genomic research to explaining racial disparities in cardiovascular disease: a systematic review.基因组研究对解释心血管疾病种族差异的贡献：一项系统综述。
Am J Epidemiol. 2015 Apr 1;181(7):464-72. doi: 10.1093/aje/kwu319. Epub 2015 Mar 1.
7
Genes, environment, and African ancestry in cardiometabolic disorders.基因、环境与非洲裔人群的心血管代谢疾病易感性
Trends Endocrinol Metab. 2023 Oct;34(10):601-621. doi: 10.1016/j.tem.2023.07.007. Epub 2023 Aug 17.
8
Equity in Genomics: A Brief Report on Cardiovascular Health Disparities in African American Adults.基因组学中的公平性：非裔美国成年人心血管健康差异的简要报告。
J Cardiovasc Nurs. 2022;37(1):58-63. doi: 10.1097/JCN.0000000000000725.
9
Brief Review: Racial and Ethnic Disparities in Cardiovascular Care with a Focus on Congenital Heart Disease and Precision Medicine.简要综述：以先天性心脏病和精准医学为重点的心血管护理中的种族和民族差异。
Curr Atheroscler Rep. 2023 May;25(5):189-195. doi: 10.1007/s11883-023-01093-3. Epub 2023 Mar 25.
10
Structural racism in precision medicine: leaving no one behind.精准医学中的结构性种族主义：不落下任何人。
BMC Med Ethics. 2020 Feb 19;21(1):17. doi: 10.1186/s12910-020-0457-8.
引用本文的文献
1
Echoes of Inequity: A Critical Examination of the Past, Present, and Future of Cardiac Health Equity.不平等的回声：对心脏健康公平性的过去、现在和未来的批判性审视
Curr Cardiol Rep. 2025 Sep 19;27(1):134. doi: 10.1007/s11886-025-02275-y.
2
Bench to all Bedsides in Genomics and Precision Medicine.基因组学与精准医学领域的从实验室到临床应用
J Am Heart Assoc. 2025 Jun 3;14(11):e039202. doi: 10.1161/JAHA.124.039202. Epub 2025 May 26.
3
Striving Towards Equity in Cardiovascular Genomics Research.努力实现心血管基因组学研究的公平性
Curr Atheroscler Rep. 2025 Feb 18;27(1):34. doi: 10.1007/s11883-025-01277-z.
4
Another Use for Polygenic Risk Scores: Improving Risk Prediction for Heterozygous Familial Hypercholesterolemia.多基因风险评分的另一个用途：改善杂合子家族性高胆固醇血症的风险预测
JACC Adv. 2023 Oct 27;2(9):100663. doi: 10.1016/j.jacadv.2023.100663. eCollection 2023 Nov.
5
The Importance of Cultural Awareness in the Management of Heart Failure: A Narrative Review.文化意识在心力衰竭管理中的重要性：叙事性综述。
Vasc Health Risk Manag. 2024 Mar 12;20:109-123. doi: 10.2147/VHRM.S392636. eCollection 2024.
6
Multi-Ancestry Polygenic Risk Score for Coronary Heart Disease Based on an Ancestrally Diverse Genome-Wide Association Study and Population-Specific Optimization.基于具有多种祖先的全基因组关联研究和人群特异性优化的冠心病多祖先多基因风险评分。
Circ Genom Precis Med. 2024 Jun;17(3):e004272. doi: 10.1161/CIRCGEN.123.004272. Epub 2024 Feb 21.
7
Validity of European-centric cardiometabolic polygenic scores in multi-ancestry populations.基于多民族人群的欧洲中心型心脏代谢多基因评分的有效性。
Eur J Hum Genet. 2024 Jun;32(6):697-707. doi: 10.1038/s41431-023-01517-3. Epub 2024 Jan 5.
8
Genome-wide association studies on coronary artery disease: A systematic review and implications for populations of different ancestries.基于全基因组关联研究的冠状动脉疾病：系统综述及对不同种族人群的影响。
PLoS One. 2023 Nov 29;18(11):e0294341. doi: 10.1371/journal.pone.0294341. eCollection 2023.
9
A Multi-Ancestry Polygenic Risk Score for Coronary Heart Disease Based on an Ancestrally Diverse Genome-Wide Association Study and Population-Specific Optimization.基于多祖先全基因组关联研究和特定人群优化的冠心病多祖先多基因风险评分
medRxiv. 2023 Jun 6:2023.06.02.23290896. doi: 10.1101/2023.06.02.23290896.
10
Genetic Architecture of Dilated Cardiomyopathy in Individuals of African and European Ancestry.非洲裔和欧洲裔个体扩张型心肌病的遗传结构。
JAMA. 2023 Aug 1;330(5):432-441. doi: 10.1001/jama.2023.11970.
本文引用的文献
1
Stop Explaining Black Box Machine Learning Models for High Stakes Decisions and Use Interpretable Models Instead.停止为高风险决策解释黑箱机器学习模型，转而使用可解释模型。
Nat Mach Intell. 2019 May;1(5):206-215. doi: 10.1038/s42256-019-0048-x. Epub 2019 May 13.
2
Deep learning enables genetic analysis of the human thoracic aorta.深度学习可用于人类胸主动脉的基因分析。
Nat Genet. 2022 Jan;54(1):40-51. doi: 10.1038/s41588-021-00962-4. Epub 2021 Nov 26.
3
The Polygenic Score Catalog as an open database for reproducibility and systematic evaluation.多基因风险评分目录作为一个开放的数据库，用于可重复性和系统评估。
Nat Genet. 2021 Apr;53(4):420-425. doi: 10.1038/s41588-021-00783-5.
4
Transethnic Transferability of a Genome-Wide Polygenic Score for Coronary Artery Disease.冠心病全基因组多基因评分的跨种族转移性
Circ Genom Precis Med. 2021 Feb;14(1):e003092. doi: 10.1161/CIRCGEN.120.003092. Epub 2020 Dec 7.
5
Improving the trans-ancestry portability of polygenic risk scores by prioritizing variants in predicted cell-type-specific regulatory elements.通过优先考虑预测细胞类型特异性调控元件中的变异，提高多基因风险评分的跨种族可移植性。
Nat Genet. 2020 Dec;52(12):1346-1354. doi: 10.1038/s41588-020-00740-8. Epub 2020 Nov 30.
6
High-depth African genomes inform human migration and health.高深度的非洲基因组信息揭示了人类的迁徙和健康状况。
Nature. 2020 Oct;586(7831):741-748. doi: 10.1038/s41586-020-2859-7. Epub 2020 Oct 28.
7
Strategic vision for improving human health at The Forefront of Genomics.基因组学前沿改善人类健康的战略愿景。
Nature. 2020 Oct;586(7831):683-692. doi: 10.1038/s41586-020-2817-4. Epub 2020 Oct 28.
8
Population-specific and trans-ancestry genome-wide analyses identify distinct and shared genetic risk loci for coronary artery disease.特定人群和跨种族全基因组分析确定了冠心病的独特和共同遗传风险位点。
Nat Genet. 2020 Nov;52(11):1169-1177. doi: 10.1038/s41588-020-0705-3. Epub 2020 Oct 5.
9
Genetic Architecture of Abdominal Aortic Aneurysm in the Million Veteran Program.百万退伍军人计划中腹主动脉瘤的遗传结构。
Circulation. 2020 Oct 27;142(17):1633-1646. doi: 10.1161/CIRCULATIONAHA.120.047544. Epub 2020 Sep 28.
10
Genetics meets proteomics: perspectives for large population-based studies.遗传学与蛋白质组学的融合：基于大人群的研究展望。
Nat Rev Genet. 2021 Jan;22(1):19-37. doi: 10.1038/s41576-020-0268-2. Epub 2020 Aug 28.
Zotero 插件