Genetic outline of the hermeneutics of the diseases connection phenomenon in human

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 patte...

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Main Authors: E. Yu. Bragina, V. P. Puzyrev
Format: Article
Language:English
Published: Siberian Branch of the Russian Academy of Sciences, Federal Research Center Institute of Cytology and Genetics, The Vavilov Society of Geneticists and Breeders 2023-03-01
Series:Вавиловский журнал генетики и селекции
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Online Access:https://vavilov.elpub.ru/jour/article/view/3627
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author E. Yu. Bragina
V. P. Puzyrev
author_facet E. Yu. Bragina
V. P. Puzyrev
author_sort E. Yu. Bragina
collection DOAJ
description 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.
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publishDate 2023-03-01
publisher Siberian Branch of the Russian Academy of Sciences, Federal Research Center Institute of Cytology and Genetics, The Vavilov Society of Geneticists and Breeders
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spelling doaj-art-ccc3a5d463874340961f4822a142a9262025-02-01T09:58:11ZengSiberian Branch of the Russian Academy of Sciences, Federal Research Center Institute of Cytology and Genetics, The Vavilov Society of Geneticists and BreedersВавиловский журнал генетики и селекции2500-32592023-03-0127171710.18699/VJGB-23-031324Genetic outline of the hermeneutics of the diseases connection phenomenon in humanE. Yu. Bragina0V. P. Puzyrev1Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of SciencesResearch Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences; Siberian State Medical UniversityThe 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.https://vavilov.elpub.ru/jour/article/view/3627diseases connection phenomenonsyntropydystropycomorbidityhermeneutics
spellingShingle E. Yu. Bragina
V. P. Puzyrev
Genetic outline of the hermeneutics of the diseases connection phenomenon in human
Вавиловский журнал генетики и селекции
diseases connection phenomenon
syntropy
dystropy
comorbidity
hermeneutics
title Genetic outline of the hermeneutics of the diseases connection phenomenon in human
title_full Genetic outline of the hermeneutics of the diseases connection phenomenon in human
title_fullStr Genetic outline of the hermeneutics of the diseases connection phenomenon in human
title_full_unstemmed Genetic outline of the hermeneutics of the diseases connection phenomenon in human
title_short Genetic outline of the hermeneutics of the diseases connection phenomenon in human
title_sort genetic outline of the hermeneutics of the diseases connection phenomenon in human
topic diseases connection phenomenon
syntropy
dystropy
comorbidity
hermeneutics
url https://vavilov.elpub.ru/jour/article/view/3627
work_keys_str_mv AT eyubragina geneticoutlineofthehermeneuticsofthediseasesconnectionphenomenoninhuman
AT vppuzyrev geneticoutlineofthehermeneuticsofthediseasesconnectionphenomenoninhuman