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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

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World Journal of Gastroenterology 2020年第12期26卷 1365-1381页

作者： Dimitri Poddighe chiara rebuffi Annalisa De Silvestri Cristina Capittini Department of Medicine School of MedicineNazarbayev UniversityNur-Sultan 010000Kazakhstan Grant Office and Scientific Documentation Center Fondazione IRCCS Policlinico San MatteoPavia 27100Italy Scientific Direction Clinical Epidemiology and Biometric UnitFondazione IRCCS Policlinico San MatteoPavia 27100Italy Department of Biology and Biotechnology"Lazzaro Spallanzani" University of PaviaPavia 27100Italy

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 ***,both factors are necessary–but not sufficient–to develop ***,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 ***,the possibility and feasibility of widened screening strategies to identify CD patients are *** To provide further evidence of the main epidemiological importance of HLADQB1*02 allele in the population of CD *** 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 *** 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 *** 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 *** 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 ***,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 varian

关键词： Celiac disease Children HLA-DQB1*02 DQ2 heterodimer Screening Systematic review

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