Celiac disease predisposition

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 varies from 2% in Finland to 0.3% in Germany. All epidemiological studies indicate that celiac disease is more common in women than in men, with a 2:1 ratio, respectively.

Celiac disease can be diagnosed at any age. In children, symptoms such as 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 nonspecific complaints.

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 immune response abnormally triggered by 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.

Genes analyzed

HLA-DQA1

Bibliography

Asai Y., Eslami A., et al. Genome-wide association study and meta-analysis in multiple populations identifies new loci for peanut allergy and establishes C11orf30/EMSY as a genetic risk factor for food allergy. J Allergy Clin Immunol. 2018 Mar;141(3):991-1001.

Czolk R., Klueber J., et al. IgE-Mediated Peanut Allergy: Current and Novel Predictive Biomarkers for Clinical Phenotypes Using Multi-Omics Approaches. Front Immunol. 2021 Jan 28;11:594350.

Hong X., Hao K., et al. Genome-wide association study identifies peanut allergy-specific loci and evidence of epigenetic mediation in US children. Nat Commun. 2015 Feb 24;6:6304.

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