Bragina E Yu, Puzyrev V P
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences, Tomsk, Russia.
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences, Tomsk, Russia Siberian State Medical University, Tomsk, Russia.
Vavilovskii Zhurnal Genet Selektsii. 2023 Mar;27(1):7-17. doi: 10.18699/VJGB-23-03.
The structure of diseases in humans is heterogeneous, which is manifested by various combinations of diseases, including comorbidities associated with a common pathogenetic mechanism, as well as diseases that rarely manifest together. Recently, there has been a growing interest in studying the patterns of development of not individual diseases, but entire families associated with common pathogenetic mechanisms and common genes involved in their development. Studies of this problem make it possible to isolate an essential genetic component that controls the formation of disease conglomerates in a complex way through functionally interacting modules of individual genes in gene networks. An analytical review of studies on the problems of various aspects of the combination of diseases is the purpose of this study. The review uses the metaphor of a hermeneutic circle to understand the structure of regular relationships between diseases, and provides a conceptual framework related to the study of multiple diseases in an individual. The existing terminology is considered in relation to them, including multimorbidity, polypathies, comorbidity, conglomerates, families, "second diseases", syntropy and others. Here we summarize the key results that are extremely useful, primarily for describing the genetic architecture of diseases of a multifactorial nature. Summaries of the research problem of the disease connection phenomenon allow us to approach the systematization and natural classification of diseases. From practical healthcare perspective, the description of the disease connection phenomenon is crucial for expanding the clinician's interpretive horizon and moving beyond narrow, disease-specific therapeutic decisions.
人类疾病的结构具有异质性，表现为多种疾病组合，包括与共同致病机制相关的共病，以及很少同时出现的疾病。最近，人们越来越关注研究的不是个别疾病的发展模式，而是与共同致病机制和参与其发展的共同基因相关的整个疾病家族。对这个问题的研究使得分离出一个重要的遗传成分成为可能，该成分通过基因网络中单个基因的功能相互作用模块以复杂的方式控制疾病聚集体的形成。本研究的目的是对疾病组合各个方面问题的研究进行分析性综述。该综述使用诠释学循环的隐喻来理解疾病之间规则关系的结构，并提供一个与个体多种疾病研究相关的概念框架。同时考虑了与之相关的现有术语，包括共病、多病共存、合并症、聚集体、疾病家族、“继发性疾病”、协同性等。在这里，我们总结了一些关键结果，这些结果非常有用，主要用于描述多因素性质疾病的遗传结构。对疾病关联现象研究问题的总结使我们能够对疾病进行系统化和自然分类。从实际医疗保健的角度来看，对疾病关联现象的描述对于拓宽临床医生的解释视野、超越狭隘的针对特定疾病的治疗决策至关重要。
