[Genotyping in patients affected by HLA-related diseases. App development for diagnostic support.]

Abstract	HLA typing requests for association studies of immune-mediated diseases are often redundant and inadequate. We designed a series of meta-analyses to evaluate the accuracy of typing and distribution of HLA alleles predisposing to diseases, aiming at developing an app that can help doctors in choosing the most suitable molecular analysis. The first study was on celiac disease (CD) and HLA-DQ in children. We searched all english articles published in the main bibliographic databases up to May 2016. The search strategy has been developed using controlled terms (e.g. MeSH) and free terms. We identified 1885 articles. 1334 abstracts were examined. 46 manuscripts were evaluated, and 13 studies were included in the meta-analysis (740 CD and 943 controls). The risk of developing CD in children with allelic variants encoding the HLA-DQ2.5 and/or HLA-DQ8 molecules has been confirmed. The greatest CD risk resides in carriers of two DQ2.5 molecules, i.e. subjects homozygous for the DQB102:01 and DQA105 alleles (OR=5.4, 95 % CI=4.1-6.8) compared to any other DQ genotype. Carriers of two DQB102:01 (chain β2) alleles and one DQA105 (chain α5) allele have the same risk (p=0.8089) of DQ2.5 homozygotes (OR=5.3%, 95 CI=4,1 to 6.5). We found no differences between DQ8/β2 and DQ2.5/DQ8, nor between β2/DQX and DQ2.5/X. We suggest a two-step process: first typing the DQB1*02:01 allele and, in case of a negative result, full typing of HLA-DQ.
Authors	Cristina Capittini, Chiara Rebuffi, Valeria Scotti, Dimitri Poddighe, Luca Mascaretti, Annamaria Pasi, Miryam Martinetti, Carmine Tinelli, Annalisa De Silvestri
Journal	Recenti progressi in medicina (Recenti Prog Med) Vol. 109 Issue 2 Pg. 124-126 (Feb 2018) ISSN: 2038-1840 [Electronic] Italy
Vernacular Title	Tipizzazione genetica nelle patologie HLA-correlate. Sviluppo di una app per il supporto diagnostico.
PMID	29493637 (Publication Type: Journal Article, Meta-Analysis, Review)
Chemical References	HLA-DQ Antigens HLA-DQ2 antigen HLA-DQ8 antigen
Topics	Alleles Case-Control Studies Celiac Disease (diagnosis, genetics) Child Genetic Predisposition to Disease Genotype HLA-DQ Antigens (genetics) Humans Mobile Applications

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