Study identifies new genetic variant associated with ARDS

An international study in which Javier Belda, Professor of Surgery at the University of Valencia and Incliva researcher, participated, has identified a new genetic variant associated with Acute Respiratory Distress Syndrome (ARDS). The work, with a sample of more than 2,000 patients, has been published in the Intensive Care Medicine Experimental journal.

Acute Respiratory Distress Syndrome (ARDS) is one of the main causes of mortality in adults admitted to Intensive Care Units. Previous studies have shown the existence of genetic variants involved in the susceptibility and results of this syndrome.

The aim intended with this national multicenter study, in which fourteen Spanish research centres intensive care units and one from the US have participated, has been to identify new genes involved in the susceptibility to ARDS induced by sepsis. For this, three candidate genes were prioritised and, of them, a single nucleotide polymorphism of the FLT1 gene was associated with ARDS.

Javier Belda, co-author of the study as director of the Anesthesia Research Group of the Incliva Sanitary Research Institute, highlights: "The identification of genes associated with the Respiratory Distress Syndrome allows us in the clinic to advance treatment decisions to the patient, which brings us closer to a personalised or precision medicine".

The work has been done with a sample of more than 2,000 participants. The first study of association and recognition of genes involved was carried out among 225 patients with ARDS induced by sepsis and 899 controls based on the population. Finally, the findings were validated in an independent sample of 661 cases of ARDS induced by sepsis and 234 risk controls.

Researchers have identified a genetic variant of the vascular endothelial growth factor receptor, FLT1, as a new susceptibility gene of the Acute Respiratory Distress Syndrome and have shown that the integration of genomic data can be a valid procedure to identify new susceptibility genes.