primary prevention of coeliac disease - Associazione Italiana ...

Catassi C, Fasano A, Corazza GR (eds):
Primary prevention of coeliac disease. The
utopia of the new millennium? Perspectives
on Coeliac Disease, vol. 1, AIC Press, pp 1-11
Current understanding of the basis for coeliac disease
Ludvig M. Sollid
Institute of Immunology, University of Oslo, Rikshospitalet, N-0027 Oslo, Norway
lmsollid@labmed.uio.no
Introduction
Coeliac disease (CD) has received increased attention in recent years. The disease is
more common than previously thought with a prevalence of about 1:130-1:300 in
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Western societies . It is an acquired disorder; it may be diagnosed in early childhood
with classical symptoms like diarrhoea and malabsorption, but it may also be diagnosed
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later in life often with symptoms that do not directly allude to a gut disease .
CD develops because of intolerance to ingested wheat gluten (consisting of the
subcomponents gliadin and glutenin) or related proteins from rye and barley. There is a
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chronic inflammation in the small intestine with resultant flattening of the mucosa .
The current treatment is a life-long gluten exclusion diet which often impairs the quality
of life of those who are affected. For this reason many coeliacs ask for novel treatment
modalities and methods to prevent the disease.
CD belongs to the group of chronic inflammatory diseases with multifactorial
aetiology where genetic and environmental components are involved. Among these
disorders CD stands out as a particularly good model. This paper will briefly cover
some of the recent advances in the understanding of this disorder.
Genetic factors
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A high prevalence (10%) among first degree relatives of CD patients and a high
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concordance rate of 70-100% in monozygotic twins indicate that susceptibility to
develop CD is strongly influenced by inherited (genetic) factors. Both HLA and non-
HLA genes contribute to the genetic predisposition, and assuming a multiplicative
model of disease genetics it has been estimated that the overall importance of non-HLA
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genes is greater than that of HLA genes . These figures should be interpreted with
caution, however, as increased sharing of environmental factors by the sibs would tend
to overestimate the role of the non-HLA genes.
The majority of CD patients carry the DRB1*0301-DQA1*0501-DQB1*0201
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