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

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

Authors

  • Martina Sciurti Gastroenterology and Endoscopy Unit, Department of Medicine and Surgery, University of Parma, Parma, Italy
  • Fabiola Fornaroli Gastroenterology and Endoscopy Unit, Department of Medicine and Surgery, University of Parma, Parma, Italy
  • Federica Gaiani Gastroenterology and Endoscopy Unit, Department of Medicine and Surgery, University of Parma, Parma, Italy
  • Chiara Bonaguri Laboratory of Clinical Chemistry and Hematology, University Hospital of Parma, Italy
  • Gioacchino Leandro National Institute of Gastroenterology “S. De Bellis” Research Hospital, Castellana Grotte, Italy
  • Francesco Di Mario Gastroenterology and Endoscopy Unit, Department of Medicine and Surgery, University of Parma, Parma, Italy
  • Gian Luigi de' Angelis Gastroenterology and Endoscopy Unit, Department of Medicine and Surgery, University of Parma, Parma, Italy

Keywords:

celiac disease, HLA typing, diagnostics, genetic predisposition

Abstract

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.

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Published

17-12-2018

How to Cite

1.
Sciurti M, Fornaroli F, Gaiani F, Bonaguri C, Leandro G, Di Mario F, et al. Genetic susceptibilty and celiac disease: what role do HLA haplotypes play?. Acta Biomed [Internet]. 2018 Dec. 17 [cited 2024 Jul. 22];89(9-S):17-21. Available from: https://www.mattioli1885journals.com/index.php/actabiomedica/article/view/7953