Impact of PCSK9 loss-of-function genotype on 1-year mortality and recurrent infection in sepsis survivors

EBioMedicine. 2018 Dec:38:257-264. doi: 10.1016/j.ebiom.2018.11.032. Epub 2018 Nov 23.

Abstract

Background: Reduced activity of proprotein convertase subtilisin/kexin type 9 (PCSK9) has been associated with decreased short-term death in patients with septic shock. Whether PCSK9 genotype influences long-term outcomes in sepsis survivors is unknown.

Methods: We evaluated the impact of PCSK9 loss-of-function (LOF) genotype on both 1-year mortality and infection-related readmission (IRR) after an index sepsis admission. The Derivation cohort included 342 patients who survived 28 days after a sepsis admission in a tertiary hospital (Vancouver/Canada, 2004-2014), while an independent Validation cohort included 1079 septic shock patients admitted at the same hospital (2000-2006). All patients were genotyped for three common missense PCSK9 LOF variants rs11591147, rs11583680, rs562556 and were classified in 3 groups: Wildtype, single PCSK9 LOF, and multiple PCSK9 LOF, according to the number of LOF alleles per patient. We also performed a meta-analysis using both cohorts to investigate the effects of PCSK9 genotype on 90-day survival.

Findings: In the Derivation cohort, patients carrying multiple PCSK9 LOF alleles showed lower risk for the composite outcome 1-year death or IRR (HR: 0.40, P = 0.006), accelerated reduction on neutrophil counts (P = 0.010), and decreased levels of PCSK9 (P = 0.037) compared with WT/single LOF groups. Our meta-analysis revealed that the presence of multiple LOF alleles was associated with lower 90-day mortality risk (OR = 0.69, P = 0.020).

Interpretation: The presence of multiple PCSK9 LOF alleles decreased the risk of 1-year death or IRR in sepsis survivors. Biological measures suggest this may be related to an enhanced resolution of the initial infection.

Funding: Canadian Institutes of Health Research (PJT-156056).

Keywords: Mortality; PCSK9; Readmission; Sepsis; Septic shock.

MeSH terms

  • Adult
  • Aged
  • Alleles
  • Biomarkers
  • Female
  • Genetic Predisposition to Disease
  • Genotype*
  • Humans
  • Loss of Function Mutation*
  • Male
  • Middle Aged
  • Mortality
  • Patient Readmission
  • Polymorphism, Single Nucleotide
  • Prognosis
  • Proprotein Convertase 9 / genetics*
  • Recurrence
  • Retrospective Studies
  • Sepsis / diagnosis
  • Sepsis / etiology*
  • Sepsis / metabolism
  • Sepsis / mortality*
  • Time Factors

Substances

  • Biomarkers
  • PCSK9 protein, human
  • Proprotein Convertase 9