Genetic testing: who should do the testing and what is the role of genetic testing in the setting of celiac disease?
Celiac disease is a remarkable and common immune-mediated disorder determined by both the presence of characteristic HLA alleles (DQ2 and DQ8) and one of the best characterized environmental factors (gliadin) for any common autoimmune disease. The discovery of transglutaminase autoantibodies and the development of assays for these antibodies has allowed the identification of a large number of asymptomatic individuals with autoimmunity and intestinal biopsy evidence of celiac lesions. Further understanding of the sequelae of asymptomatic celiac disease, and the interaction between genetic susceptibility and environmental factors, are likely to alter fundamentally both genetic screening for celiac disease and its therapy.
Liu
Edwin
E
Barbara Davis Center for Childhood Diabetes, University of Colorado Health Sciences Center, Denver, Colorado 80262, USA.
Rewers
Marian
M
Eisenbarth
George S
GS
D000328:Adult; D001323:Autoantibodies / Q000032:analysis; D002446:Celiac Disease / Q000175:diagnosis* / Q000235:genetics* / Q000628:therapy; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006683:HLA-DQ Antigens / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D015997:Neonatal Screening; D012307:Risk Factors
D001323:Autoantibodies; D006683:HLA-DQ Antigens; C053186:HLA-DQ2 antigen; C109756:HLA-DQ8 antigen