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Background and Aim Human leukocyte antigen (HLA)‐DQ2 and/or ‐DQ8 is an essential risk factor for celiac disease (CD). About 90–95% of patients with CD carry HLA‐DQ2/‐DQ8 alleles, and HLA‐DQ typing is considered an additional diagnostic test. Conventional polymerase chain reaction (PCR)‐based HLA‐DQ typing methods are expensive, complex, and a time‐consuming process. We assessed the efficacy of a novel HLA‐DQ typing method, “Celiac Gene Screen,” for the detection of CD‐associated HLA haplotypes. Methods To assess the diagnostic performance of the Celiac Gene Screen test, 100 ethylenediaminetetraacetic acid (EDTA) blood samples, already characterized by the conventional HLA‐DQ typing method, that is, PCR sequence‐specific oligonucleotide probes (PCR‐SSOP), a concordance between both the methods were explored. For validity, a further 300 EDTA blood samples with unknown HLA‐DQ status were genotyped using the Celiac Gene Screen test, including 141 samples from CD, 56 first‐degree relatives (FDRs) of CD and 103 samples from controls. Results Of the 100 samples with known status of HLA‐DQ alleles, 79 samples were HLA‐DQ2 and/or ‐DQ8 positive, and 21 samples were HLA‐DQ2 and/or ‐DQ8 negative by conventional PCR. These 100 samples were re‐typed using the Celiac Gene screen kit; all 79 positives were typed positive, and 21 negatives were typed negative for HLA‐DQ alleles. Among 300 samples with unknown HLA‐DQ status, 118 of 141 (84%) patients with CD, 48 of 56 (86%) FDRs of CD, and 52 of 103 (50%) controls typed positive for HLA‐DQ alleles. Conclusions The Celiac Gene Screen HLA‐DQ typing method showed excellent concordance with the conventional HLA‐DQ typing method and could be a cost‐reducing and effective method for CD‐associated HLA screening.

Background: Histological changes induced by gluten in the duodenal mucosa of patients with non-coeliac gluten sensitivity (NCGS) are poorly defined. \ud \ud \ud \ud Objectives: To evaluate the structural and inflammatory features of NCGS compared to controls and coeliac disease (CeD) with milder enteropathy (Marsh I-II). \ud \ud \ud \ud Methods: Well-oriented biopsies of 262 control cases with normal gastroscopy and histologic findings, 261 CeD, and 175 NCGS biopsies from 9 contributing countries were examined. Villus height (VH, in μm), crypt depth (CrD, in μm), villus-to-crypt ratios (VCR), IELs (intraepithelial lymphocytes/100 enterocytes), and other relevant histological, serologic, and demographic parameters were quantified. \ud \ud \ud \ud Results: The median VH in NCGS was significantly shorter (600, IQR: 400–705) than controls (900, IQR: 667–1112) (p < 0.001). NCGS patients with Marsh I-II had similar VH and VCR to CeD [465 µm (IQR: 390–620) vs. 427 µm (IQR: 348–569, p = 0·176)]. The VCR in NCGS with Marsh 0 was lower than controls (p < 0.001). The median IEL in NCGS with Marsh 0 was higher than controls (23.0 vs. 13.7, p < 0.001). To distinguish Marsh 0 NCGS from controls, an IEL cut-off of 14 showed 79% sensitivity and 55% specificity. IEL densities in Marsh I-II NCGS and CeD groups were similar. \ud \ud \ud \ud Conclusion: NCGS duodenal mucosa exhibits distinctive changes consistent with an intestinal response to luminal antigens, even at the Marsh 0 stage of villus architecture.