Genetic variants in the HLA-DQ2 and HLA-DQ8 genes and their involvement in the predisposition to celiac disease

Celiac disease is a multisystem disorder that is triggered by the consumption of gluten in genetically predisposed people, particularly those who carry the HLA-DQ2 and HLA-DQ8 alleles. Environmental factors and certain epigenetic mechanisms play a fundamental role in the manifestation of the disease. It has been shown that the gut microbiome can influence disease progression to some extent. Celiac disease presents with gastrointestinal and extraintestinal symptoms that complicate the diagnosis. Classic symptoms include digestive disorders, while non-classic symptoms include anemia, osteoporosis, and unexplained fatigue. Serological antibody tests and duodenal biopsy are key to a diagnosis, especially in atypical cases. At present, the only treatment is a strict gluten-free diet, although this presents certain problems due to the high cost and nutritional deficiencies. New research is looking for alternatives such as gluten-breaking enzymes as well as immunomodulatory treatments in hopes of more comprehensive options in the future.