Chapters authored
Genotype DQ2.5/DQ2.2 (ββ2/ββ2) and High Celiac Disease Risk Development
Celiac disease (CD) is a genetically determined immune-mediated disorder in which gluten immunogenic peptides are presented to CD4 T cells by HLA-DQ2.5, DQ8, DQ2.2, and their combinations. CD is considered one of the most well-characterized autoimmune diseases, having a described environmental factor, a well-established pathogenesis, associated genetic factors, and a well-established laboratory diagnosis, although it is still considered a difficult-to-classify disease. In the last decades, advances in laboratory diagnosis with the emergence of molecular biology techniques have allowed a specific characterization of the CD-associated genotypes and, although clinically the disease management was not modified by this factor, the follow-up of patients at risk of CD development has greatly benefited from the possibility of specifically finding the inherited genotype, and whether it represents a greater or lesser risk for developing the disease. In some populations, it is already possible to calculate the exact risk associated to the inherited genome by each individual, but the genotypes available in several countries sometimes disregard the relevance of searching beyond the genotypes DQ2.5/DQ2.5, DQ2.5/DQ8, and DQ2.5/DQ2.2, which also present a high risk for developing the disease.
Part of the book: Celiac Disease