A low frequency missense variant in VPS13A on chromosome 9q21.2 was associated with 28 day mortality after sepsis
A frequent intronic variant in CRISPLD2 was also supported and was reported to be associated with procalcitonin levels
Similarly supported was an intergenic frequent variant on chromosome13q21.33 – a region related to chronic kidney disease
Sepsis is the dysregulated host response to an infection which leads to life-threatening organ dysfunction that is known to vary by host genomic factors. However, the detection of genetic variants related to sepsis outcomes has been challenging so far. We conducted a discovery genome-wide association study (GWAS) in 740 adult patients with sepsis looking for variants that vary with 28 day mortality. We followed-up our best findings by additional GWAS and exome sequencing data in 3544 adult patients and report three regions including the genes VPS13A and CRISPLD2 that were supported by our data and external biological evidence.