Common variants in NLRP2 and NLRP3 genes are strong prognostic factors for the outcome of HLA-identical sibling allogeneic stem cell transplantation

Blood. 2008 Nov 15;112(10):4337-42. doi: 10.1182/blood-2007-12-129247. Epub 2008 Sep 4.

Abstract

The inflammasomes are macromolecular cytosolic complexes involved in the production of interleukin-1beta (IL-1beta) and IL-18 in response to several pathogen-derived stimuli. Such interleukins have been implicated in the origin of severe allogeneic stem cell transplant (allo-SCT) complications. We analyzed the relationship between the interindividual variability in inflammasome protein-encoding genes in donors and patients and clinical outcome after allo-SCT. Fourteen common genetic variants in 5 genes of the inflammasome, namely, NLRP1, NLRP2, NLRP3, CARD8, and CASP5, were genotyped in 133 human leukocyte antigen-identical sibling pairs undergoing allo-SCT. In the multivariate analysis, donor variants in NLRP2 and NLRP3 were the most important prognostic factors for the clinical outcome after allo-SCT. Thus, donor TT genotype at rs10925027 in NLRP3 was associated with disease relapse (odds ratio (OR) = 6.3, P = 1 x 10(-7)), and donor GG genotype at rs1043684 in NLRP2 was associated with nonrelapse mortality (OR = 4.4, P = 6 x 10(-4)) and overall survival (OR = 3.1, P = .001). In addition, patient AA genotype at rs5862 in NLRP1 was associated with nonrelapse mortality (OR = 2.8, P = .005) and overall survival (OR = 2.0, P = .009). These results suggest that inflammasome genetic variants are important prognostic factors for the outcome of allo-SCT. If validated in larger studies, including unrelated allo-SCT, NLRPs genotype would become an important factor in donor selection.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adaptor Proteins, Signal Transducing / genetics*
  • Adaptor Proteins, Signal Transducing / metabolism
  • Adolescent
  • Adult
  • Apoptosis Regulatory Proteins / genetics
  • Apoptosis Regulatory Proteins / metabolism
  • CARD Signaling Adaptor Proteins / genetics
  • CARD Signaling Adaptor Proteins / metabolism
  • Carrier Proteins / genetics*
  • Carrier Proteins / metabolism
  • Caspases / genetics
  • Caspases / metabolism
  • Disease-Free Survival
  • Female
  • Genetic Variation*
  • Genotype
  • HLA Antigens*
  • Hematologic Neoplasms / genetics
  • Hematologic Neoplasms / metabolism
  • Hematologic Neoplasms / mortality
  • Humans
  • Interleukin-18
  • Interleukin-1beta / metabolism
  • Male
  • Middle Aged
  • NLR Family, Pyrin Domain-Containing 3 Protein
  • NLR Proteins
  • Neoplasm Proteins / genetics
  • Neoplasm Proteins / metabolism
  • Predictive Value of Tests
  • Recurrence
  • Retrospective Studies
  • Siblings*
  • Stem Cell Transplantation*
  • Survival Rate
  • Transplantation, Homologous

Substances

  • Adaptor Proteins, Signal Transducing
  • Apoptosis Regulatory Proteins
  • CARD Signaling Adaptor Proteins
  • CARD8 protein, human
  • Carrier Proteins
  • HLA Antigens
  • Interleukin-18
  • Interleukin-1beta
  • NLR Family, Pyrin Domain-Containing 3 Protein
  • NLR Proteins
  • NLRP1 protein, human
  • NLRP2 protein, human
  • NLRP3 protein, human
  • Neoplasm Proteins
  • CASP5 protein, human
  • Caspases