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

Laura Caggiari1, Giuseppe Toffoli, Valli De Re

  • 1Experimental and Clinical Pharmacology Unit, Centro di Riferimento Oncologico, IRCCS, National Cancer Institute, Aviano - Italy.

The International Journal of Biological Markers
|December 20, 2011
PubMed

Insights

Killer cell immunoglobulin-like receptor (KIR) and human leukocyte antigen (HLA) gene combinations are linked to celiac disease (CD) complications. Specific KIR/HLA genotypes may increase susceptibility to refractory CD and cancer in patients.

Area of Science:

  • Immunogenetics
  • Gastroenterology
  • Oncology

Background:

  • Celiac disease (CD) pathogenesis involves human leukocyte antigen (HLA) gene polymorphisms.
  • Non-HLA genes, including killer cell immunoglobulin-like receptor (KIR) genes, are increasingly recognized for their role in CD susceptibility and complications.

Purpose of the Study:

  • To investigate the association between KIR/HLA gene combinations and celiac disease (CD).
  • To explore the link between specific KIR/HLA genotypes and CD-related clinical complications, such as refractory CD and cancer.

Main Methods:

  • Genotyping for KIR and HLA genes in 61 adult celiac disease patients and 69 healthy blood donors from northeast Italy.
  • Analysis of KIR/HLA gene combinations in patients with newly diagnosed CD, refractory CD, and CD-associated cancer.

Main Results:

  • Statistically significant differences in KIR/HLA genotypes were observed between CD patients and controls.
  • Specific genotypes, including 2DS2/2DL2+C1, 2DS3, 3DL1, and 2DL5B, were associated with susceptibility to refractory CD and cancer.
  • Absence of the Bw4 ligand was identified as a potential predisposing factor for cancer in CD patients.

Conclusions:

  • KIR haplotypes and HLA ligands play a role in the susceptibility to severe clinical manifestations of celiac disease.
  • These genetic factors may influence the development of refractory disease and cancer in the context of CD.

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