Genetic Determinants of the Acute Respiratory Distress Syndrome.

Autor: Suarez-Pajes E; Research Unit, Hospital Universitario Nuestra Señora de Candelaria, 38010 Santa Cruz de Tenerife, Spain., Tosco-Herrera E; Research Unit, Hospital Universitario Nuestra Señora de Candelaria, 38010 Santa Cruz de Tenerife, Spain., Ramirez-Falcon M; Research Unit, Hospital Universitario Nuestra Señora de Candelaria, 38010 Santa Cruz de Tenerife, Spain., Gonzalez-Barbuzano S; Research Unit, Hospital Universitario Nuestra Señora de Candelaria, 38010 Santa Cruz de Tenerife, Spain., Hernandez-Beeftink T; Department of Population Health Sciences, University of Leicester, Leicester LE1 7RH, UK.; NIHR Leicester Biomedical Research Centre, University of Leicester, Leicester LE1 7RH, UK., Guillen-Guio B; Department of Population Health Sciences, University of Leicester, Leicester LE1 7RH, UK.; NIHR Leicester Biomedical Research Centre, University of Leicester, Leicester LE1 7RH, UK., Villar J; CIBER de Enfermedades Respiratorias (CIBERES), Instituto de Salud Carlos III, 28029 Madrid, Spain.; Research Unit, Hospital Universitario de Gran Canaria Dr. Negrín, 35019 Las Palmas de Gran Canaria, Spain., Flores C; Research Unit, Hospital Universitario Nuestra Señora de Candelaria, 38010 Santa Cruz de Tenerife, Spain.; CIBER de Enfermedades Respiratorias (CIBERES), Instituto de Salud Carlos III, 28029 Madrid, Spain.; Genomics Division, Instituto Tecnológico y de Energías Renovables (ITER), 38600 Santa Cruz de Tenerife, Spain.; Faculty of Health Sciences, University of Fernando Pessoa Canarias, 35450 Las Palmas de Gran Canaria, Spain.
Jazyk: angličtina
Zdroj: Journal of clinical medicine [J Clin Med] 2023 May 27; Vol. 12 (11). Date of Electronic Publication: 2023 May 27.
DOI: 10.3390/jcm12113713
Abstrakt: Acute respiratory distress syndrome (ARDS) is a life-threatening lung condition that arises from multiple causes, including sepsis, pneumonia, trauma, and severe coronavirus disease 2019 (COVID-19). Given the heterogeneity of causes and the lack of specific therapeutic options, it is crucial to understand the genetic and molecular mechanisms that underlie this condition. The identification of genetic risks and pharmacogenetic loci, which are involved in determining drug responses, could help enhance early patient diagnosis, assist in risk stratification of patients, and reveal novel targets for pharmacological interventions, including possibilities for drug repositioning. Here, we highlight the basis and importance of the most common genetic approaches to understanding the pathogenesis of ARDS and its critical triggers. We summarize the findings of screening common genetic variation via genome-wide association studies and analyses based on other approaches, such as polygenic risk scores, multi-trait analyses, or Mendelian randomization studies. We also provide an overview of results from rare genetic variation studies using Next-Generation Sequencing techniques and their links with inborn errors of immunity. Lastly, we discuss the genetic overlap between severe COVID-19 and ARDS by other causes.
Databáze: MEDLINE
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