Genetic susceptibilty and celiac disease: What role do HLA haplotypes play?

Martina Sciurti, Fabiola Fornaroli, Federica Gaiani, Chiara Bonaguri, Gioacchino Leandro, Francesco Di Mario, Gian Luigi De’angelis

Research output: Contribution to journalReview articlepeer-review


Celiac disease is a chronic immune-mediated enteropathy triggered by exposure to dietary gluten in genetically predisposed individuals. Many genes involved in the pathogenesis have been identified and a crucial role is known to be played by the Human Leukocyte Antigen (HLA) system. The main determinants for genetic susceptibility are HLA-DQA1 and HLA-DQB1 genes encoding for HLA-DQ2 and HLA-DQ8 molecules, carried by almost all patients affected. However, since HLA-DQ2 and HLA-DQ8 heterodimers explain almost 40% of the disease heritability, HLA typing should not be applied in diagnosis, but exclusively to clarify uncertain diagnoses, considering its negative predictive value. (

Original languageEnglish
Pages (from-to)17-21
Number of pages5
JournalActa Biomedica
Publication statusPublished - Jan 1 2018


  • Celiac disease
  • Diagnostics
  • Genetic predisposition
  • Hla typing

ASJC Scopus subject areas

  • Medicine(all)


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