Pathophysiology and immunogenetics of celiac disease

Clin Chim Acta. 2022 Mar 1:528:74-83. doi: 10.1016/j.cca.2022.01.022. Epub 2022 Feb 1.

Abstract

Celiac disease (CD) is a chronic inflammatory enteropathy caused by gluten (protein from wheat, rye and, barley) in genetically predisposed individuals carrying the HLA-DQ2/HLA-DQ8 genotype. This pathology has a multifactorial etiology in which HLA genes, the microbiome, gluten and, other environmental factors are involved in the development of the disease. Its pathogenesis involves both innate and adaptive immunity as well as upregulation of IL-15. The objective of this review is to examine the results of current studies on genetic and environmental variables to better understand the pathogenesis of this enteropathy. The complex etiology of celiac disease makes our understanding of the pathogenesis of the disease incomplete, and a better knowledge of the many genetic and environmental components would help us better understand the pathophysiology of celiac disease.

Keywords: Celiac disease; HLA; Microbiota; Physiopathology; Transglutaminase 2.

Publication types

  • Review

MeSH terms

  • Celiac Disease* / genetics
  • Genetic Predisposition to Disease
  • Glutens / genetics
  • HLA-DQ Antigens / genetics
  • Humans
  • Immunogenetics

Substances

  • HLA-DQ Antigens
  • Glutens