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复杂疾病中基因与社会流行病学整合的概念框架。

Conceptual frameworks for the integration of genetic and social epidemiology in complex diseases.

作者信息

Xue Diane, Hajat Anjum, Fohner Alison E

机构信息

Institute for Public Health Genetics, University of Washington School of Public Health, 1959 NE Pacific St, Room H-690, Seattle, WA 98195, USA.

Department of Epidemiology, University of Washington School of Public Health, Hans Rosling Population Health Building, 3980 15th Ave NE, Seattle, WA 98195, USA.

出版信息

Glob Epidemiol. 2024 Jul 8;8:100156. doi: 10.1016/j.gloepi.2024.100156. eCollection 2024 Dec.

Abstract

Uncovering the root causes of complex diseases requires complex approaches, yet many studies continue to isolate the effects of genetic and social determinants of disease. Epidemiologic efforts that under-utilize genetic epidemiology methods and findings may lead to incomplete understanding of disease. Meanwhile, genetic epidemiology studies are often conducted without consideration of social and environmental context, limiting the public health impact of genomic discoveries. This divide endures despite shared goals and increases in interdisciplinary data due to a lack of shared theoretical frameworks and differing language. Here, we demonstrate that bridging epidemiological divides does not require entirely new ways of thinking. Existing social epidemiology frameworks including Ecosocial theory and Fundamental Cause Theory, can both be extended to incorporate principles from genetic epidemiology. We show that genetic epidemiology can strengthen, rather than detract from, efforts to understand the impact of social determinants of health. In addition to presenting theoretical synergies, we offer practical examples of how genetics can improve the public health impact of epidemiology studies across the field. Ultimately, we aim to provide a guiding framework for trainees and established epidemiologists to think about diseases and complex systems and foster more fruitful collaboration between genetic and traditional epidemiological disciplines.

摘要

揭示复杂疾病的根本原因需要采用复杂的方法,但许多研究仍在孤立地研究疾病的遗传和社会决定因素的影响。那些未充分利用遗传流行病学方法和研究结果的流行病学研究可能会导致对疾病的理解不完整。与此同时,遗传流行病学研究往往在不考虑社会和环境背景的情况下进行,限制了基因组发现对公共卫生的影响。尽管有着共同的目标,且由于缺乏共享的理论框架和不同的术语,跨学科数据有所增加,但这种分歧依然存在。在此,我们证明弥合流行病学分歧并不需要全新的思维方式。现有的社会流行病学框架,包括生态社会理论和根本原因理论,都可以加以扩展,纳入遗传流行病学的原理。我们表明,遗传流行病学能够增强而非削弱理解健康社会决定因素影响的努力。除了展示理论上的协同作用,我们还提供了遗传学如何提高整个领域流行病学研究对公共卫生影响的实际例子。最终,我们旨在为受训人员和资深流行病学家提供一个指导框架,以思考疾病和复杂系统,并促进遗传和传统流行病学学科之间更富有成效的合作。

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