The DQ2 ALLELE, DQB1∗02:02, Differentiates mild from severe histology in adult celiac disease patients

Abstract

Aim Celiac disease (CD) is a T cell, immune-mediated, small bowel disease caused by gluten exposure in patients with a genetic predisposition. It is highly associated with DQ2 and DQ8. Most CD patients type as either DQA1∗05:01/DQB1∗02:01,or DQA1∗03:01/DQB1∗03:02. A third group with DQ2 subtype DQA1∗02:01/DQB1∗02:02 was also noted. We examined the clinical characteristics of four groups of CD patients, including those positive for both DQ2 and DQ8. Methods Tissue typing was performed with LabType class II kits (One Lambda ThermoFisher,Canoga Park CA). SSP was performed to confirm alleles. Patient data was derived from a retrospective, cross sectional chart review. The Marsh Classification was used to characterize patients according to histological findings including degree of villous blunting, intraepithelial lymphocytosis and lamina propria expansion. Marsh Scoring ranges from M0 (normal) to M4 (total villus blunting). Results Of 89 adult patients with biopsy-proven CD, 45 ( 51%) carried the expected HLA DQA1∗05:01/DQB1:02:01(DQ2); 15 (16%) had DQA1∗03:01/DQB1∗03:02(DQ8), 7 (8%) had DQB1∗03:02 plus DQB1∗02:01(DQ8 + DQ2) together, and 22(25%) typed as DQA1∗02:01/DQB1∗02:02(DQ2). The M0 and M1 combined score was found in 64% of the DQB1∗02:02 group compared with 31% in the DQB1∗02:01 group (OR = 0.26, P = .017). Conclusions Patients with DQB1∗02:02 are four times more likely to have Marsh Scores of 0-1, than patients with DQB1∗02:01. These less severe histologic changes may be associated with a better prognosis. Our study reports a 24% prevalence of the allele DQB1∗02:02 compared with previous reports of 4% in adults. Download : Download full-size image