Celiac disease

Celiac disease is a common multi-factorial enteropathy characterized by small intestine malabsorption and mucosal lesions resulting from ingestion of gluten. Celiac disease presents a strong association with major histocompatibility complex (MHC), in particular with HLA-DQ2 and HLA-DQ8 heterodimer. Over 90% of celiac patients carry the HLA-DQ2 heterodimer which is encoded by DQA1*05 and DQB1*02 alleles either in cis or in trans. Most DQ2 negative patients carries the heterodimer DQ 8 encoded by DBQA1*0301 and DB1*0302 alleles. Only a few number of celiac patients presents neither DQ2 heterodimer nor DQ8 heterodimer; many of them present only the β-chain of the DQ2 heterodimer.