Memorias de investigación
Research Publications in journals:
VPS13D Gene Variant Is Associated with Altered IL-6 Production and Mortality in Septic Shock
Year:2015

Research Areas
  • Natural sciences and health sciences

Information
Abstract
Genetic variations contribute to septic shock mortality. To discover a novel locus, we performed in vitro genome-wide association studies (GWAS) and further tested the result in a cohort of septic shock patients. Methods: Two in vitro GWAS using a quantitative trait locus analysis of stimulated IL-6 production in lymphoblastoid cells from 60 individuals of European ancestry were performed. VPS13D rs6685273 was genotyped in European ancestry patients (n = 498). The VPS13D gene was silenced in vitro. Results: Two GWAS using lymphoblastoid cells identified the locus of VPS13D rs6685273 that was significant in the same direction in both GWAS. The VPS13D rs6685273 C allele was associated with increased IL-6 production. Patients with septic shock who had the VPS13D rs6685273 CC genotype had an increased 28-day mortality (p = 0.023) and more organ failure (p < 0.05) compared to the CT/TT genotypes. VPS13D in vitro gene silencing in the HeLa cell line increased IL-6 production. Furthermore, the rs6685273 genotype was associated with differential VPS13D splice variant expression. Conclusions: The VPS13D rs6685273 C allele was associated with increased IL-6 production in vitro. The patients with the VPS13D rs6685273 CC genotype had increased 28-day mortality and increased organ failure. VPS13D appears to regulate IL-6 production
International
Si
JCR
Si
Title
Journal of Innate Immunity
ISBN
1662-811X
Impact factor JCR
4,557
Impact info
Volume
7
Journal number
From page
545
To page
553
Month
SIN MES
Ranking
Participants
  • Autor: Taka-aki Nakada University of British Columbia
  • Autor: John H. Boyd University of British Columbia
  • Autor: James A. Russell University of British Columbia
  • Autor: Rosalía Aguirre-Hernández University of British Columbia
  • Autor: Mark Denis Wilkinson UPM
  • Autor: Simone A. Thair University of British Columbia
  • Autor: Emiri Nakada University of British Columbia
  • Autor: Melissa K. McConechy University of British Columbia
  • Autor: Christopher D. Fjell University of British Columbia
  • Autor: Keith R. Walley University of British Columbia

Research Group, Departaments and Institutes related
  • Creador: Grupo de Investigación: BIOLOGÍA MOLECULAR Y COMPUTACIONAL
  • Centro o Instituto I+D+i: Centro de Biotecnología y Genómica de Plantas, CBGP
  • Departamento: Biotecnología - Biología Vegetal