IP: Dr. Carlos Flores Infante

Resumen del proyecto: Pulmonary fibrosis is associated with a mortality rate >60% in patients with the most severe form of acute lung injury (ALI). It is currently unknown why critically ill patients develop ALI, and why some of them develop pulmonary fibrosis. Our hypothesis is that common genetic variants confer susceptibility to develop ALI and further complications such as pulmonary fibrosis. As part of a multidisciplinary and multicentric project where the principal investigator is involved, entitled "Mechanisms of Ventilator-Induced Pulmonary Fibrosis and Possible Therapeutic Targets" whose group leader is Dr. Jesús Villar, we aim to assess common variants within the genes WNT5A and NFE2L2 and their association with ALI and outcomes. To fulfill this goal, informative single nucleotide polymorphisms of the common variation of these genes will be genotyped in Spanish case samples collected from several health centers and in control samples from BNADN. Besides, all the samples will be genotyped for ancestry informative markers to adjust for population stratification. Although we are aware that ALI is a complex phenotype, for the time being we will only focus in these 2 biologically plausible genes. We expect that an early definition of a genetic predisposition to ALI and pulmonary fibrosis will be useful to generate potential treatments and, in the best-case scenario, could provide diagnostic and/or prognostic value.

Entidad financiadora: Instituto de Salud Carlos III