Carrier frequency of HLA-DQB1*02 allele in patients affected with celiac disease:A systematic review assessing the potential rationale of a targeted allelic genotyping as a first-line screening  

作　　者：Dimitri Poddighe Chiara Rebuffi Annalisa De Silvestri Cristina Capittini 

机构地区：[1]Department of Medicine,School of Medicine,Nazarbayev University,Nur-Sultan 010000,Kazakhstan [2]Grant Office and Scientific Documentation Center,Fondazione IRCCS Policlinico San Matteo,Pavia 27100,Italy [3]Scientific Direction,Clinical Epidemiology and Biometric Unit,Fondazione IRCCS Policlinico San Matteo,Pavia 27100,Italy [4]Department of Biology and Biotechnology"Lazzaro Spallanzani",University of Pavia,Pavia 27100,Italy

出　　处：《World Journal of Gastroenterology》2020年第12期1365-1381,共17页世界胃肠病学杂志（英文版）

基　　金：the Nazarbayev University Faculty Development Competitive Research Grant 2020-2022,No.240919FD3912.

摘　　要：BACKGROUND Celiac Disease(CD)is an immune-mediated disorder,in which the HLA immunogenetic background(DQ2 and DQ8 heterodimers)and environmental trigger(gluten)are well established.Indeed,both factors are necessary–but not sufficient–to develop CD.However,it is very likely that CD is underdiagnosed in both developing and developed countries,due to several aspects,including the fact that a lot of patients present mild and/or atypical symptoms,without the presence of any recognized risk factors.Therefore,the possibility and feasibility of widened screening strategies to identify CD patients are debated.AIM To provide further evidence of the main epidemiological importance of HLADQB1*02 allele in the population of CD patients.METHODS We performed a systematic search in PubMed,EMBASE,Cochrane,Web of Science and Scopus databases,in order to produce a systematic review assessing the carrier frequency of HLA-DQB1*02 allele in the celiac population.Following the PRISMA guidelines,we retrieved all the original articles describing CD patients’HLA-DQB1 genotype in such a way that could allow to assess the HLADQB1*02 carrier frequency among CD patients,along with the evidence of the appropriate diagnostic work-up to achieve a correct and final diagnosis of CD.RESULTS The final output of this systematic search in the medical literature consisted of 38 studies providing the appropriate HLA-DQB1 genotype information of the respective CD population.According to this systematic review,including a pool of 4945 HLA-DQ genotyped CD patients,the HLA-DQB1*02 carrier frequency was 94.94%,meaning that only 5.06%of CD patients were completely lacking this allelic variant.Interestingly,if we consider only the studies whereby the prevalence of CD patients affected with type 1 diabetes mellitus was supposed or clearly established to be very low,the frequency of non-HLA-DQB1*02 carriers among CD patients dropped to 3.65%.CONCLUSION Such a high carrier frequency of the HLA-DQB1*02 allelic variant(which is>95%-96%in CD patients without rBACKGROUND Celiac Disease(CD) is an immune-mediated disorder, in which the HLA immunogenetic background(DQ2 and DQ8 heterodimers) and environmental trigger(gluten) are well established. Indeed, both factors are necessary – but not sufficient – to develop CD. However, it is very likely that CD is underdiagnosed in both developing and developed countries, due to several aspects, including the fact that a lot of patients present mild and/or atypical symptoms, without the presence of any recognized risk factors. Therefore, the possibility and feasibility of widened screening strategies to identify CD patients are debated.AIM To provide further evidence of the main epidemiological importance of HLADQB1*02 allele in the population of CD patients.METHODS We performed a systematic search in PubMed, EMBASE, Cochrane, Web of Science and Scopus databases, in order to produce a systematic review assessing the carrier frequency of HLA-DQB1*02 allele in the celiac population. Following the PRISMA guidelines, we retrieved all the original articles describing CD patients’ HLA-DQB1 genotype in such a way that could allow to assess the HLADQB1*02 carrier frequency among CD patients, along with the evidence of the appropriate diagnostic work-up to achieve a correct and final diagnosis of CD.RESULTS The final output of this systematic search in the medical literature consisted of 38 studies providing the appropriate HLA-DQB1 genotype information of the respective CD population. According to this systematic review, including a pool of 4945 HLA-DQ genotyped CD patients, the HLA-DQB1*02 carrier frequency was 94.94%, meaning that only 5.06% of CD patients were completely lacking this allelic variant. Interestingly, if we consider only the studies whereby the prevalence of CD patients affected with type 1 diabetes mellitus was supposed or clearly established to be very low, the frequency of non-HLA-DQB1*02 carriers among CD patients dropped to 3.65%.CONCLUSION Such a high carrier frequency of the HLA-DQB1*02 allelic variant(which i

关 键 词：CELIAC disease Children HLA-DQB1*02 DQ2 HETERODIMER SCREENING Systematic review 

分 类 号：R593.2[医药卫生—内科学]