Coeliac disease

Author: L. Greco
Submitted: Wednesday 28th of October 2009 11:33:39 AM
Submitted by: egf
Educational levels: qc1, qc2, qc3


Coeliac disease has a multifactorial background, but there is no doubt that the genetic component give the largest contribution to the disease. Incidence within families is ten times the incidence among unrelated individuals. The concordance between monozygotic twins is above 80%, as compared to the relatively low concordance (less than 20%) among dizygotic twin pairs . Dyzigotic twins have a concordance rate similar to sibs reared at different times. These data suggest that there is such a strong genetic component that unshared environmental factors play a minor role in the pathogenesis of the disease. Monozygote and dizygote couples do share the same environment in infancy, but their concordance rate is very different : common environment is likely to explain a minor part of the variance in the incidence of the disease. First degree relatives of coeliac patients show an incidence of disease of 10% , but this familial risk is not equally shared among all families. The risk is strongly related to the profile of HLA Class II genes transmitted within the family. Double dose of the DQB1*02 gene is associated to higher risk than single dose of the same gene. The HLA profile of the proband allows a gross estimate of the risk for a new sibs, but the typing of parents gives a more accurate estimate of the risk for a newborn to develop coeliac disease. Among families with a case, 40% will have a negligible risk to have an affected newborn, 30% will have a risk ranging from 1 to 10% and 30% will have a risk above 20%.


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L. Greco. Coeliac disease. EUROGENE portal. October 2009. online:

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