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.
Highlights
The authors consider the role of genetic studies in modern medicine
The panel of genetic markers, which is associ ated with the increased risk of both community associated and nosocomial pneumonia (combinations of polymorphic vari ants 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
Summary
Проведенное ассоциативное исследование выявило три гена (ACE, IL 6 и CYP1A1), продемонстрировавших наи большую взаимосвязь между числом рис ковых генотипов и риском развития как внебольничной, так и нозокомиальной пневмонии. Многогранность функций легких, их значение для поддержания гомеоста за требует глубокого анализа и рассмотрения полимор физма генов, участвующих в различных метаболических процессах, поэтому в качестве генов кандидатов пред расположенности к риску развития пневмонии были вы браны гены, участвующие в регуляции различных звень ев гомеостаза: гены детоксикации ксенобиотиков (CYP1A1 T606G rs2606345; CYP1A1T3801C rs4646903; CYP1A1 A4889G rs1048943; GSTM1 Ins/Del; GSTT1 Ins/Del; GSTP1 A313G Ile105Val, rs1695; ABCB1 T3435C rs1045642), гены, участвующие в регуляции иммунного ответа (IL6 174 G>C rs1800795; TNFα 308G>A rs1800629; CCR5 Del32 rs333), ключевой ген ренин ангиотензино вой системы — ACE Alu 287 bp rs4340, а также ген триг гер, ответственный за синтез и метилирование ДНК — MTHFR 677C>T Ala222Val rs1801133.
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