Genetic and exogenous causes of celiac disease

  1. Dr. Schär Institute
  2. Genetic and exogenous causes of celiac disease
DNA, Genetik, Exogene Ursachen, Pathogenese

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

Genetic factors

A high incidence of celiac disease within affected families (approximately 10% among first-degree relatives and 80% among twins) suggests a genetic involvement in the pathogenesis of celiac disease [5]. An important genetic factor is the human leukocyte antigen (HLA) system, a gene complex whose task is to recognise foreign molecules. 90% of celiac 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].

Exogenous factors

The presence of gluten in the diet is clearly a pre-requisite for the development of celiac disease. Recent weaning guidelines have recommended that it may be prudent to avoid both early (<4 months of age) and late (>7 months of age) introduction of gluten and to introduce gluten while infants are still being breastfed [3,4]. However, these recommendations were based largely on observational data and more recently a number of new randomised control studies have been published in this area. Data from such studies appears to indicate that exclusive or any breastfeeding, including breastfeeding at the time of gluten introduction does not reduce the risk of developing coeliac disease during childhood. Moreover, for infants at higher risk of developing celiac disease, gluten introduction at 4 months of age, or at 6-12 months of age results in similar rates of celiac disease diagnosis in early childhood [5].

Connection to other diseases

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

 

References

 

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