Both donor and recipient NOD2/CARD15 mutations associate with transplant-related mortality and GvHD following allogeneic stem cell transplantation

Blood. 2004 Aug 1;104(3):889-94. doi: 10.1182/blood-2003-10-3543. Epub 2004 Apr 15.

Abstract

Single nucleotide polymorphisms (SNPs) of the NOD2/CARD15 gene resulting in a diminished nuclear factor-kappaB (NF-kappaB) response to bacterial cell wall products have been associated with an increased incidence of Crohn disease. To assess a possible contribution of NOD2/CARD15 mutations to graft-versus-host disease (GvHD) and complications following allogeneic stem cell transplantation, we retrospectively typed DNA from donor/recipient pairs in 169 consecutive patients receiving transplants from related or unrelated donors. Mutated alleles were observed in 21% of patients and in 14% of donors. Cumulative incidence of 1-year, transplant-related mortality rose from 20% in donor/recipient pairs without mutated SNPs to 49% in pairs with recipient mutations (P =.03) and 59% in pairs with donor mutations (P <.005), and was highest in 12 pairs with mutated alleles in both donor and recipients (83%; P <.001). Similar associations were observed for severe overall and severe gastrointestinal GvHD. The impact of NOD2/CARD15 mutations was more prominent for HLA-identical sibling transplantations but was also observed in unrelated donor transplantation. Mutations proved to be independent risk factors for transplant-related mortality. Our findings indicate a major role of monocyte/macrophage dysfunction in the pathophysiology of GvHD and strongly suggest a future risk assessment or even donor selection through NOD2/CARD15 typing.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Carrier Proteins / genetics*
  • DNA / blood
  • DNA / genetics
  • DNA / isolation & purification
  • Female
  • Graft vs Host Disease / epidemiology*
  • Graft vs Host Disease / genetics
  • Humans
  • Intracellular Signaling Peptides and Proteins*
  • Male
  • Middle Aged
  • Mutation*
  • Nod2 Signaling Adaptor Protein
  • Polymorphism, Single Nucleotide / genetics*
  • Retrospective Studies
  • Stem Cell Transplantation / mortality*
  • Survival Analysis
  • Time Factors
  • Transplantation, Homologous / mortality

Substances

  • Carrier Proteins
  • Intracellular Signaling Peptides and Proteins
  • NOD2 protein, human
  • Nod2 Signaling Adaptor Protein
  • DNA