Genetic Factors of the Disease Course after Sepsis: A Genome-Wide Study for 28Day Mortality.

ABSTRACT: Sepsis is the dysregulated host response to an infection which leads to life-threatening organ dysfunction that varies by host genomic factors. We conducted a genome-wide association study (GWAS) in 740 adult septic patients and focused on 28day mortality as outcome. Variants with suggestive evidence for an association (p≤10^-5) were validated in two additional GWA studies (n=3470) and gene coding regions related to the variants were assessed in an independent exome sequencing study (n=74). In the discovery GWAS, we identified 243 autosomal variants which clustered in 14 loci (p≤10^-5). The best association signal (rs117983287; p=8.16×10^-8) was observed for a missense variant located at chromosome 9q21.2 in the VPS13A gene. VPS13A was further supported by add

SUBMITTER: Scherag A 

PROVIDER: S-EPMC5078589 | biostudies-literature | 2016 Oct

REPOSITORIES: biostudies-literature