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Updated: Aug 25, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
[Gene polymorphism in intensive care patients. Is the course of disease predetermined?]
S Ziegeler1, S Kleinschmidt, C D Collard
1Klinik für Anästhesiologie und Intensivmedizin, Universitätsklinikum des Saarlandes, Germany. aiszie@uniklinik-saarland.de
Abstract:
Molecular biology has revolutionized medicine by increasing our understanding of the pathophysiological mechanisms of disease and the ability to assess genetic risk. Individual differences in disease manifestation and course in intensive care medicine often cannot be explained by known phenotypic risk factors alone. Recent data suggest an association between specific genotypes and the risk of adverse clinical outcomes. This includes inflammatory responses (i.e. TNF-alpha, Il-10), infectious diseases such as pneumonia or meningitis, sepsis, ARDS, as well as the mortality of critically injured patients (polytrauma, severe brain trauma). Continued identification of such allotypes and haplotypes may not only provide insight as to why the response to treatment varies amongst individuals in the intensive care unit, but also may potentially decrease morbidity and mortality through improved risk assessment and the administration of prophylactic therapy.
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