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Coeliac disease in the year 2000.

S Auricchio1, R Troncone, F Maurano

  • 1Department of Paediatrics, University Federico II, Naples, Italy. troncone@unina.it

Italian Journal of Gastroenterology and Hepatology
|March 24, 2000
PubMed
Summary

Coeliac disease involves permanent intolerance to wheat gliadins, diagnosed by small bowel changes. Genetic factors, particularly HLA DQ2, significantly influence susceptibility and pathogenesis.

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Area of Science:

  • Immunology
  • Gastroenterology
  • Genetics

Background:

  • Coeliac disease is a permanent intolerance to wheat gliadins and related prolamines.
  • Clinical presentation varies, with malabsorption syndrome affecting only a minority of patients.
  • Diagnosis relies on pathological changes in the small bowel mucosa.

Purpose of the Study:

  • To summarize the understanding of coeliac disease pathogenesis and genetic susceptibility.
  • To highlight the role of HLA DQ2 in coeliac disease.
  • To explore potential direct toxic effects of gluten.

Main Methods:

  • Review of existing literature on coeliac disease.
  • Analysis of genetic associations, focusing on the HLA region.
  • Discussion of pathogenetic mechanisms, including immune responses.

Main Results:

  • Approximately 95% of coeliac disease patients carry the HLA DQ2/heterodimer.
  • A gluten-specific Th1 response in the lamina propria is a key pathogenetic mechanism.
  • Non-HLA genes may also contribute to genetic susceptibility.

Conclusions:

  • Coeliac disease is a complex condition influenced by both genetic predisposition and environmental triggers like gluten.
  • The HLA DQ2/heterodimer is strongly associated with coeliac disease.
  • Further research is needed to fully elucidate the direct toxic effects of gluten and the role of non-HLA genes.

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