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Celiac disease predisposition

What is celiac disease? 

Celiac disease is an autoimmune disorder that can occur in genetically predisposed individuals, in whom the ingestion of gluten proteins present in wheat, barley, and rye or derivatives, causes damage to the villi of the small intestine.  

It is estimated that 1% of the general population develops celiac disease. In Europe, the prevalence of celiac disease varies from 2% in Finland to 0.3% in Germany. All epidemiological studies indicate that celiac disease is more prevalent in women, with a female to male ratio of 2:1.  

Celiac disease can be diagnosed at any age. In children, diarrhea and malabsorption syndrome predominate. In adults, 75% of cases are diagnosed in women, with a peak incidence in the third decade and atypical symptoms, represented by iron deficiency anemia and prolonged non-specific discomfort. 

Causes of celiac disease 

Celiac disease is caused by an abnormal response to gluten. Gluten is partially digested in the intestine and the peptides produced, such as gliadin, can cause an inflammatory response in susceptible individuals. The abnormally triggered immune response to gluten causes pathological lesions in the intestinal epithelium, altering the structure of the intestinal villi and their main function, which is the absorption of nutrients. 

The role of genetics in celiac disease predisposition 

SNPs have been described that are predictive of HLA risk factors associated with CD). Our team of geneticists evaluates the rs2187668 and rs7454108 polymorphisms that are associated with the presence of the HLA-DQ2.5 and HLA-DQ8 haplogroups, respectively. 

CD patients have at least one copy of HLA-DQ2.5 and HLA-DQ8. Therefore, the absence of HLA-DQ2.5 and HLA-DQ8 haplotypes leads to the conclusion that the patient is not at risk of developing celiac disease. The accuracy of its predictive value is very high, around 99%. 

Prevention and treatment 

The only effective treatment is adherence to a life-long gluten-free diet, for symptomatic as well as asymptomatic patients. A strict gluten-free dietary regimen leads to the disappearance of the clinical symptoms and functional alterations, as well as to the normalization of the intestinal lining. If a gluten-free diet is strictly followed, it has been shown that after 10 years the risk of developing neoplastic diseases and probably autoimmune illnesses is similar to that of the general population. 

Gene or region studied

  • 6:32681483
  • HLA-DQA1
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