MAGI2 Gene Region and Celiac Disease
dc.contributor.author | Jauregi Miguel, Amaia | |
dc.contributor.author | Santín Gómez, Izortze | |
dc.contributor.author | García Etxebarria, Koldo | |
dc.contributor.author | Olazagoitia Garmendia, Ane | |
dc.contributor.author | Romero Garmendia, Irati | |
dc.contributor.author | Sebastián de la Cruz, Maialen | |
dc.contributor.author | Irastorza Terradillos, Iñaki Xarles | |
dc.contributor.author | Spanish Consortium for the Genetics of Celiac Disease | |
dc.contributor.author | Castellanos Rubio, Ainara | |
dc.contributor.author | Bilbao Catalá, José Ramón | |
dc.date.accessioned | 2020-03-25T12:53:42Z | |
dc.date.available | 2020-03-25T12:53:42Z | |
dc.date.issued | 2019-12-19 | |
dc.identifier.citation | Frontiers in Nutrition 6 : (2019) // Article ID 187 | es_ES |
dc.identifier.issn | 2296-861X | |
dc.identifier.uri | http://hdl.handle.net/10810/42328 | |
dc.description.abstract | Celiac disease (CD) patients present a loss of intestinal barrier function due to structural alterations in the tight junction (TJ) network, the most apical unions between epithelial cells. The association of TJ-related gene variants points to an implication of this network in disease susceptibility. This work aims to characterize the functional implication of TJ-related, disease-associated loci in CD pathogenesis. We performed an association study of 8 TJ-related gene variants in a cohort of 270 CD and 91 non-CD controls. The expression level of transcripts located in the associated SNP region was analyzed by RT-PCR in several human tissues and in duodenal biopsies of celiac patients and non-CD controls. (si)RNA-driven silencing combined with gliadin in the Caco2 intestinal cell line was used to analyze the implication of transcripts from the associated region in the regulation of TJ genes. We replicated the association of rs6962966*A variant [p = 0.0029; OR = 1.88 (95%1.24-2.87)], located in an intron of TJ-related MAGI2 coding gene and upstream of RP4-587D13.2 transcript, bioinformatically classified as a long non-coding RNA (lncRNA). The expression of both genes is correlated and constitutively downregulated in CD intestine. Silencing of lncRNA decreases the levels of MAGI2 protein. At the same time, silencing of MAGI2 affects the expression of several TJ-related genes. The associated region is functionally altered in disease, probably affecting CD-related TJ genes. | es_ES |
dc.description.sponsorship | This work was partially funded by the Basque Department of Education grant IT1281-19 and ISCIII Research Project PI16/00258, cofunded by the European Union ERDF, A way to make Europe to JB. AC-R is supported by an Ikerbasque Fellowship and funded by a research project grant 2017111082 from the Basque Goverment. IS was funded by a research project grant 2015111068 from the Basque Department of Health. AJ-M and AO-G are predoctoral fellows funded by FPI grants from the Basque Department of Education, Universities and Research and IR-G and MS are predoctoral fellows funded by the University of Basque Country. | es_ES |
dc.language.iso | eng | es_ES |
dc.publisher | Frontiers Media | es_ES |
dc.rights | info:eu-repo/semantics/openAccess | es_ES |
dc.rights.uri | http://creativecommons.org/licenses/by/3.0/es/ | * |
dc.subject | celiac disease | es_ES |
dc.subject | tight junction | es_ES |
dc.subject | association analysis | es_ES |
dc.subject | expression analysis | es_ES |
dc.subject | MAGI2 | es_ES |
dc.subject | long non-coding rna small-intestinal permeability | es_ES |
dc.subject | inflammatory-bowel-disease | es_ES |
dc.subject | MYO9B gene | es_ES |
dc.subject | association analysis | es_ES |
dc.subject | polymorphisms | es_ES |
dc.subject | expression | es_ES |
dc.subject | gliadin | es_ES |
dc.subject | risk | es_ES |
dc.subject | susceptibility | es_ES |
dc.subject | mucosa | es_ES |
dc.title | MAGI2 Gene Region and Celiac Disease | es_ES |
dc.type | info:eu-repo/semantics/article | es_ES |
dc.rights.holder | 2019 Jauregi-Miguel, Santin, Garcia-Etxebarria, Olazagoitia-Garmendia, Romero-Garmendia, Sebastian-delaCruz, Irastorza, Spanish Consortium for the Genetics of Celiac Disease, Castellanos-Rubio and Bilbao. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is | es_ES |
dc.rights.holder | Atribución 3.0 España | * |
dc.relation.publisherversion | https://www.frontiersin.org/articles/10.3389/fnut.2019.00187/full | es_ES |
dc.identifier.doi | 10.3389/fnut.2019.00187 | |
dc.departamentoes | Bioquímica y biología molecular | es_ES |
dc.departamentoes | Genética, antropología física y fisiología animal | es_ES |
dc.departamentoes | Pediatría | es_ES |
dc.departamentoeu | Biokimika eta biologia molekularra | es_ES |
dc.departamentoeu | Genetika,antropologia fisikoa eta animalien fisiologia | es_ES |
dc.departamentoeu | Pediatria | es_ES |
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Except where otherwise noted, this item's license is described as 2019 Jauregi-Miguel, Santin, Garcia-Etxebarria, Olazagoitia-Garmendia, Romero-Garmendia, Sebastian-delaCruz, Irastorza, Spanish Consortium for the Genetics of Celiac Disease, Castellanos-Rubio and Bilbao. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is