Genetics of Celiac Disease?
Celiac disease (CD) (sprue) is an immune-mediated disease of the intestines that is triggered by the ingestion of gluten in genetically susceptible individuals. Gluten is the major protein component of wheat, rye, and barley. Genetic predisposition plays a key role in CD and considerable progress has been made recently in identifying genes that are responsible for CD predisposition. It is well known that CD is strongly associated with specific HLA class II genes known as HLA-DQ2 and HLA-DQ8 located on chromosome 6p21.
@santanu According to Nevoral et al, intestinal biopsies for CD could be omitted in 28% of patients when ESPGHAN guidelines (European Society for Pediatric Gastroenterology, Hepatology and Nutrition) are applied. The authors found that because of the high accuracy of serologic tests and clinical symptoms of CD, the new guidelines seem applicable even without HLA testing. Of the 345 biopsied children, 213 (62%) had anti-TG titers greater than 10 times the upper limit of normal and positive EMA antibodies. Ninety-nine (29%) of the patients also had symptoms suggestive of CD in addition to EMA positivity and elevated titers of anti-TG greater than 10 times the upper limit of normal.