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

Caio G. et al. Celiac disease: a comprehensive current review. BMC Med. 2019;17(1):142 

Hill ID, Dirks MH, Liptak GS, Coletti RB, Fasano A, Guardalini S, et al. Guidelines for the diagnosis and treatment of celiac disease in children: recommendations of the North American Society for Pediatric Gastroenterology, Hepatology and Nutrition. J Pediatr Gastroenterol Nutr. 2005;40:1-19. 

Husby S, Koletzko S, Korponay-Szabó I, Kurppa K, Mearin ML, Ribes-Koninckx C, et al. European Society Paediatric Gastroenterology, Hepatology and Nutrition Guidelines for Diagnosing Coeliac Disease 2020. J Pediatr Gastroenterol Nutr. 2020 Jan;70(1):141-156. 

Lebwohl B, Ludvigsson JF, Green PH. Celiac disease and non-celiac gluten sensitivity. BMJ. 2015;351:h4347. 

Lebwohl B, Rubio-Tapia A. Epidemiology, Presentation, and Diagnosis of Celiac Disease. Gastroenterology. 2021 Jan;160(1):63-75. 

Liu E. et al. Risk of pediatric celiac disease according to HLA haplotype and country. N Engl J Med. 2014;371:42–9. 

Sollid LM, Korsby E. HLA susceptibility genes in coeliac disease: genetic mapping and role in pathogenesis. Gastroenterology. 1993;105:910-22. 

Monsuur AJ., et al. Effective detection of human leukocyte antigen risk alleles in celiac disease using tag single nucleotide polymorphisms. PLoS One. 2008;3(5):e2270. 

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