Rouvroye M D, Roos A, Bergkamp F, Haagen I A, van der Pol P, Neefjes-Borst E A, Bouma G, Bontkes H J
Department of Gastroenterology and Hepatology, Amsterdam UMC, Location VU Medical Center, AGEM Research Institute, Amsterdam, The Netherlands; Department of Gastroenterology and Hepatology, Spaarne Gasthuis, Boerhavelaan 22, 2035 RC Haarlem, The Netherlands.
Department of Medical Microbiology and Immunology, St. Antonius Hospital, Nieuwegein, The Netherlands.
Hum Immunol. 2024 Nov;85(6):111158. doi: 10.1016/j.humimm.2024.111158. Epub 2024 Oct 17.
HLA-DQ2 and -DQ8 carriers are genetically predisposed to develop coeliac disease (CD). Testing negative for HLA-DQ2/DQ8 has a high negative predictive value. Full HLA-DQ genotyping as well as tests only typing for HLA-DQ2/DQ8 are therefore used for screening at-risk populations. However, HLA-DQ7 positive and HLA-DQ2/DQ8 negative CD patients have been described in various populations. In this study we examine the relevance for HLA-DQ7 typing in a large at-risk CD population. The HLA-DQ status of all paediatric and adult patients at-risk of CD that were typed in a tertiary medical centre laboratory between 2012 and 2016 (n = 3983) was obtained. HLA-DQ7 (HLA-DQB1*03:01) positive and HLA-DQ2/DQ8 negative patients were selected. We gathered information on serology, histology and dietary status, and CD diagnosis. In total, 489/3983 patients were HLA-DQ7-positive and HLA-DQ2/DQ8 negative, and after exclusion (missing data on diet or serology/histology), 325 were included. Only one adult patient was diagnosed with CD, based on a duodenal biopsy and a clinical response to a gluten-free diet. Homozygosity was observed in 14.8 %. Based on the current cohort additional typing of HLA-DQ7 does not seem relevant for screening at-risk populations for CD in the Netherlands. It should be considered in patients with a high suspicion of CD.
HLA - DQ2和 - DQ8携带者在遗传上易患乳糜泻（CD）。HLA - DQ2/DQ8检测呈阴性具有较高的阴性预测价值。因此，完整的HLA - DQ基因分型以及仅针对HLA - DQ2/DQ8的分型检测都用于对高危人群进行筛查。然而，在不同人群中都有HLA - DQ7阳性且HLA - DQ2/DQ8阴性的CD患者的报道。在本研究中，我们调查了在一大群高危CD人群中进行HLA - DQ7分型的相关性。获取了2012年至2016年间在一家三级医疗中心实验室进行分型的所有有CD风险的儿科和成年患者（n = 3983）的HLA - DQ状态。选择了HLA - DQ7（HLA - DQB1*03:01）阳性且HLA - DQ2/DQ8阴性的患者。我们收集了血清学、组织学和饮食状况以及CD诊断方面的信息。总共有489/3983名患者HLA - DQ7阳性且HLA - DQ2/DQ8阴性，排除（饮食或血清学/组织学数据缺失）后，纳入了325名患者。仅一名成年患者根据十二指肠活检和对无麸质饮食的临床反应被诊断为CD。观察到纯合子比例为(14.8%)。基于当前队列，在荷兰对高危人群进行CD筛查时，额外进行HLA - DQ7分型似乎并无相关性。对于高度怀疑患有CD的患者应予以考虑。
