We identified biologically relevant protein quantitative trait loci (pQTLs) of vascular endothelial growth factor receptor 1 (VEGFR1) levels during sepsis in TCF20 and identified CYP2D6 as the gene more biologically implicated.

Low frequency missense variation in TCF20 and sVEGFR1 levels PGS models were associated with sepsis outcomes.

Acute respiratory distress syndrome (ARDS) is an acute condition, characterised by respiratory failure, an acute inflammatory response and the development of non-cardiogenic oedema. There is a need for target pharmacological strategies and advances in the risk stratification methods that can improve patient management.

We performed the first GWAS of sVEGFR1 levels in patients with sepsis. The integration of different complementary genomic approaches has allowed us to reveal a regulatory variant of sVEGFR1 during sepsis, suggesting a role in ARDS susceptibility and mortality. In exome-wide low-frequency variation analyses, we identified TCF20 as a novel gene of interest for ARDS.

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