{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T22:24:23Z","timestamp":1792794263386,"version":"4.5.0"},"reference-count":25,"publisher":"Oxford University Press (OUP)","issue":"18","license":[{"start":{"date-parts":[[2019,5,25]],"date-time":"2019-05-25T00:00:00Z","timestamp":1558742400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"name":"Basque Department of Health"},{"DOI":"10.13039\/501100004587","name":"ISCIII","doi-asserted-by":"publisher","award":["PI16\/00258"],"award-info":[{"award-number":["PI16\/00258"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004587","name":"ISCIII","doi-asserted-by":"publisher","award":["PI18\/01142"],"award-info":[{"award-number":["PI18\/01142"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Spanish Ministry of Economy and Competitiveness","id":[{"id":"https:\/\/ror.org\/01txxn211","id-type":"ROR","asserted-by":"crossref"}]},{"name":"European Union ERDF\/ESF","id":[{"id":"https:\/\/ror.org\/019w4f821","id-type":"ROR","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,9,15]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Celiac disease (CeD) is an immune-mediated enteropathy with a strong genetic component where the main environmental trigger is dietary gluten, and currently a correct diagnosis of the disease is impossible if gluten-free diet (GFD) has already been started. We hypothesized that merging different levels of genomic information through Mendelian randomization (MR) could help discover genetic biomarkers useful for CeD diagnosis. MR was performed using public databases of expression quantitative trait loci (QTL) and methylation QTL as exposures and the largest CeD genome-wide association study conducted to date as the outcome, in order to identify potential causal genes. As a result, we identified UBE2L3, an ubiquitin ligase located in a CeD-associated region. We interrogated the expression of UBE2L3 in an independent data set of peripheral blood mononuclear cells (PBMCs) and found that its expression is altered in CeD patients on GFD when compared to non-celiac controls. The relative expression of UBE2L3 isoforms predicts CeD with 100% specificity and sensitivity and could be used as a diagnostic marker, especially in the absence of gluten consumption. This approach could be applicable to other diseases where diagnosis of asymptomatic patients can be complicated.<\/jats:p>","DOI":"10.1093\/hmg\/ddz113","type":"journal-article","created":{"date-parts":[[2019,5,23]],"date-time":"2019-05-23T15:16:23Z","timestamp":1558624583000},"page":"3037-3042","source":"Crossref","is-referenced-by-count":13,"title":["Mendelian randomization analysis of celiac GWAS reveals a blood expression signature with diagnostic potential in absence of gluten consumption"],"prefix":"10.1093","volume":"28","author":[{"given":"Nora","family":"Fernandez-Jimenez","sequence":"first","affiliation":[{"name":"University of the Basque Country (UPV\/EHU), BioCruces-Bizkaia Health Research Institute, Leioa, Basque Country, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jose Ramon","family":"Bilbao","sequence":"additional","affiliation":[{"name":"University of the Basque Country (UPV\/EHU), BioCruces-Bizkaia Health Research Institute, Leioa, Basque Country, Spain"},{"name":"Spanish Biomedical Research Center in Diabetes and Associated Metabolic Disorders (CIBERDEM) Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2019,5,25]]},"reference":[{"key":"2019091103082846900_ref1","doi-asserted-by":"crossref","first-page":"717","DOI":"10.1016\/j.ajhg.2018.04.002","article-title":"The post-GWAS era: from association to function","volume":"102","author":"Gallagher","year":"2018","journal-title":"Am. 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