Genetics and Medicine of Critical Conditions: from Theory to Practice

Abstract

The authors consider the role of genetic studies in modern medicine. The high death rates due to critical conditions (sepsis, multiple organ dysfunction, acute respiratory distress syndrome, nosocomial infections) initiate a search for prognostic models. The paper presents the results of the investigations made at the V.A. Negovsky Research Institute of General Reanimatology jointly with the V. N. Vavilov Institute of General Genetics. The panel of genetic markers, which is associated with the increased risk of both community-associated and nosocomial pneumonia (combinations of polymorphic variants in the xenobiotic detoxification gene (CYP1A1), cytokines (IL-6), and renin-angiotensin-converting enzyme (ACE), has been revealed. Genetic factors are essential in determining a response to drugs; 20—95% of the individual variability in the efficiency of their metabolism has been ascertained to result from genetic variability. An associative study has revealed differences in the efficiency of antibacterial therapy in terms of the GSTP1 and ABCB1 genes. Thus, it can be said that the possibilities of molecular genetic methods open prospects for developing the new area in reanimatology — critical care genetics. Identification of groups at increased risk for life-threatening conditions is particularly important in preventing their development and detecting their early markers for the timely determination of the required volume of specialized medical care. Key words: multifactorial diseases, gene polymorphism, xenobiotic detoxification genes, community-associated pneumonia, nosocomial pneumonia.