Genetic View on the Phenomenon of Combined Diseases in Man

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In clinical medicine, the phenomenon of polypathy, as a particular object of investigation, was first put forth by French clinicians at the end of the 19th century through the “arthritismus” doctrine. In the first half of the 20th century, German paediatricians singled out “syntropias,” which are combinations of diseases with common pathophysiological mechanisms, and “dystropias,” which are diseases that rarely co-occur in one individual. In the present paper, syntropy/dystropy is defined as a natural generic nonrandom phenomenon with an evolutionary-genetic basis. The genes involved in the development of syntropy are called “syntropic genes,” whereas the genes that co-participate in pathophysiological mechanisms and prevent the co-occurrence of particular phenotypes are called “dystropic genes.” Prospects for studying the genetic basis of this phenomenon are highlighted. The publicly available database Hu-EN et can be used in order to identify syntropic genes, as will be shown as examples in an analysis of cardiovascular diseases.

Global epidemiological studies of human diseases have yielded plenty of results, among which three observations deserve special attention when considering polypathy and the phenomenon of polymorbidity; that is, the situation in which an individual carries several diseases at the same time. First, only 30 chronic multifactor diseases account for 65 % of all the diseases human beings suffer from, accounting for morbidity and mortality rates in contemporary populations [1]. The risk of contracting such a multifactor disease in one’s lifetime is estimated at 60 % [2] in Western populations. Secondly, polypathy is typical of the clinical state of a contemporary patient. In patients over 65 years of age, it is common to observe more than ten related diseases in clinical practice; the co-occurrence of diseases in women is more frequent than in men (this is true for all age groups) [3]. Finally, genetic epidemiology studies of common multifactor diseases point to the importance of inherited factors in their appearance and development. The role of genetic or inherited factors in determining the common phenotype of different diseases can vary, but even with low heritability indices (h2 = 20-30 %), the genetic factors that affect vulnerability to infectious agents such as viruses, bacteria, helminths and parasites can be determined [4].

V P Puzyrev

Research Institute for Medical Genetics, Siberian Branch, Russian Academy of Medical Sciences


M B Freidin

Research Institute for Medical Genetics, Siberian Branch, Russian Academy of Medical Sciences

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