1. Dr.Schär Institute
  2. Dr. Schär Institute
  3. Pathogenesis
DNA, Genetik, Exogene Ursachen, Pathogenese

Coeliac disease has a complex pathology resulting from interaction between a number of genetic and exogenous factors.

Genetic factors

A high incidence of coeliac disease within affected families (approximately 10% among first-degree relatives and 80% among twins) suggests a genetic involvement in the pathogenesis of coeliac disease. An important genetic factor is the human leukocyte antigen (HLA) system, a gene complex whose task is to recognise foreign molecules. 90% of coeliac patients carry genes encoding HLA DQ2 whilst most of the remainder carry the HLA DQ8 haplotype [1]. Although these are necessary for the disease to develop, they are not solely responsible for it. It is known that these genes are also present in up to 40% of individuals in Western populations, however, the frequency is population dependent [2]. Genome wide studies have also demonstrated that 39 non-HLA regions are associated with an increased risk of coeliac disease [3].

Exogenous factors

The presence of gluten in the diet is clearly a pre-requisite for the development of coeliac disease. People with coeliac disease develop an immune response to some, but not all gluten proteins in wheat [4]. Studies have failed to show that breastfeeding has an effect on the incidence of coeliac disease [5]. A high quantity of gluten ingestion has been proposed as a proposed risk factor for coeliac disease, but current studies are conflicting. Currently, there are a lack of prevention strategies, with gluten being suggested to be consumed at small amounts at initial introduction, suggested to be commenced between 4 to 12 months of age [6]. Other risk factors, such as mode of delivery [7,8], or season of birth [9,10] have also been proposed in the pathogenesis of coeliac disease, as well as gastrointestinal infections [11].

Connection to other diseases

There are some autoimmune diseases, e.g. Type 1 diabetes, that have a high occurrence among coeliac disease patients when compared to non-affected persons. For these conditions, screening is advisable in order to detect possible coeliac disease, even if there are no clear symptoms.



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