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Published on: December 15, 2011
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
Summary
Coeliac disease involves permanent intolerance to wheat gliadins, diagnosed by small bowel changes. Genetic factors, particularly HLA DQ2, significantly influence susceptibility and pathogenesis.
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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