Pathophysiology and immunogenetics of celiac disease

Area of Science:

• Immunology
• Gastroenterology
• Genetics

Background:

• Celiac disease (CD) is a chronic inflammatory enteropathy triggered by gluten ingestion.
• It affects genetically predisposed individuals with specific HLA-DQ2/HLA-DQ8 genotypes.
• The etiology is multifactorial, involving genetic predisposition, gluten, microbiome, and environmental factors.

Purpose of the Study:

• To review current research on genetic and environmental variables in celiac disease pathogenesis.
• To enhance understanding of the complex factors contributing to the disease.
• To explore the roles of innate and adaptive immunity and IL-15 upregulation.

Main Methods:

• Literature review of current studies on celiac disease.
• Analysis of genetic factors, including HLA genes.
• Examination of environmental influences such as microbiome and gluten exposure.

Main Results:

• Celiac disease pathogenesis involves a complex interplay of genetic susceptibility and environmental triggers.
• Immune responses, including innate and adaptive immunity, and Interleukin-15 (IL-15) play significant roles.
• The multifactorial nature of CD pathogenesis is highlighted, with contributions from HLA genes, microbiome, and gluten.

Conclusions:

• A comprehensive understanding of celiac disease requires further investigation into its multifaceted genetic and environmental components.
• Elucidating these factors is crucial for improving our knowledge of the disease's pathophysiology.
• Continued research is essential for a complete understanding of celiac disease development and progression.