KIR/HLA combination associated with the risk of complications in celiac disease

Laura Caggiari, Giuseppe Toffoli, Valli de Re, Nicoletta Orzes, Michele Spina, Mariangela de Zorzi, Stefania Maiero, Renato Cannizzaro, Vincenzo Canzonieri

Research output: Contribution to journalArticlepeer-review


The pathogenesis of celiac disease (CD) is associated with polymorphisms in human leukocyte antigen (HLA) genes; however, compelling evidence suggests that additional non-HLA genes are associated with CD and related complications. The present study investigated whether killer cell immunoglobulin-like receptor (KIR)/HLA gene combinations are associated with CD and its clinical complications in the population of northeast Italy. The study included 61 adults affected by CD: 48 patients were at first diagnosis and 13 patients had CD-related complications (8 with refractory CD and 5 with cancer). Controls were 69 blood donors genotyped for KIR and HLA. Several statistically significant differences emerged between CD patients and blood donors. The results herein presented show that susceptibility to CD with refractory disease or cancer is associated with various genotypes including the 2DS2/2DL2+C1, 2DS3, 3DL1, and 2DL5B genes. In addition, the absence of the Bw4 ligand may be a predisposing factor for cancer. These results suggest that a KIR haplotype and HLA ligands may be involved in the susceptibility to important clinical CD complications such as tumors or refractoriness as a result of a gluten-free diet.

Original languageEnglish
Pages (from-to)221-228
Number of pages8
JournalInternational Journal of Biological Markers
Issue number4
Publication statusPublished - Oct 2011


  • Autoimmunity
  • Celiac disease
  • Enteropathy-associated t-cell lymphoma
  • HLA
  • KIR
  • MHC
  • Molecular immunology

ASJC Scopus subject areas

  • Clinical Biochemistry
  • Cancer Research
  • Oncology
  • Pathology and Forensic Medicine


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