Acute respiratory distress syndrome (ARDS) is a type of respiratory failure characterizes by the rapid onset of inflammation in the lungs. Symptoms include shortness of breath, rapid breathing, and bluish skin coloration. Among those who survive, a decreased quality of life is relatively common. An international study in which Javier Belda, researcher, participated, has identified a new genetic variant associated with (ARDS).
Genetic variation (GV) means that biological systems individuals and populations are different over space. Each gene pool includes various alleles of genes. Therefore the variation occurs both within and among populations, supported by individual carriers of the variant genes.

Chemical structure of chromosomes

However Change in the chemical structure of chromosomes genetic variation fundamentally, by mutation. Hence genetic recombination also produces changes within alleles. GV among individuals within a population can identify at a variety of levels. It is possible to identify genetic variation from observations of phenotypic variation in either quantitative trait.
The work, with a sample of more than 2,000 patients, has been published in the Intensive Care Medicine Experimental journal. Consequently, ARDS is one of the main causes of mortality in adults admitting to Intensive Care Units. Previous studies have shown the existence of genetic variants involved in the susceptibility and results of this syndrome.

Centers Intensive Care Units

The aim intended with this national multicenter study; in which fourteen Spanish research centers 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 are prioritizing and, of them, a single nucleotide polymorphism of the FLT1 gene is associates with ARDS.

The Identification of Genes

Javier Belda, the co-author of the study as director of the Anesthesia Research Group of the Incliva Sanitary Research Institute; “The identification of genes associated with the Respiratory Distress Syndrome, allows us in the clinic to advance treatment decisions to the patients brings us closer to a personalized or precision medicine”.

Hence the work has done with a sample of more than 2,000 participants. The most important the first studies of association and recognition of genes involving are 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.

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