Coeliac disease - from genetic and immunological studies to clinical applications.

ABSTRACT

Coeliac disease is a common and important gastrointestinal disease. It affects at least 1%, most Western European populations and in Nordic countries it is even more frequent. It is strongly associated with certain Human Leukocyte Antigen-DQ genes and triggered by ingestion of wheat gluten and related cereals from rye and barley. The diagnosis relies on a combination of clinical signs, serology and small intestinal biopsy. Work during the last couple of decades has shown that gluten-specific, Human Leukocyte Antigen-DQ-restricted T-cells in the intestinal mucosa are of paramount importance in the disease process. The gluten peptides are chemically modified by the endogenous enzyme transglutaminase 2, the same enzyme that serves as target in today's sensitive serological tests for coeliac disease. The increasing knowledge on the disease process allows for development of improved diagnosis, patient care and new treatment modalities.