Association of Genetic Variation with Pneumonia

Anke   H.W.   Bruns; R.   G.   Wunderink

Abstract

The evidence that genetic factors are involved in risk and outcome of pneumonia is clear. Most likely genetic factors play a role in risk of VAP in a subgroup of patients as well. In the past years, a large number of polymorphisms in diverse inflammatory genes have been identified as candidates to explain genetic variability in susceptibility to pulmonary infections and its adverse outcomes. Despite the number of variations already discovered, the clinical implications remain unclear. The need to advance from simple statistical significance to biological understanding is clear. Future welldesigned studies will need to address the extremely complex gene-gene and gene-environment interactions, particularly in ventilator-associated pneumonia. Large collaborative efforts creating exquisitely detailed (both clinically and microbiologically) cohorts are required to establish this rigorous approach and produce replicable results. Complementary translational studies of the functionality of the genetic variations identified are needed. Despite the criticisms raised, early examples of pharmacogenetics aspects of infectious diseases have been shown. Hopefully this renewed approach will take a step further in accomplishing the enormous promise of genetics and personalized medicine.

Keywords: Ventilator-associated pneumonia, sepsis, polymorphisms, genetic risk

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