Genetic variation associated with cardiovascular risk in autoimmune diseases

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• dc.contributor.author Perrotti, Pedro P.
• dc.contributor.author Aterido, Adrià
• dc.contributor.author IMID Consortium
• dc.date.accessioned 2024-10-22T06:31:41Z
• dc.date.available 2024-10-22T06:31:41Z
• dc.date.issued 2017
• dc.description.abstract Autoimmune diseases have a higher prevalence of cardiovascular events compared to the general population. The objective of this study was to investigate the genetic basis of cardiovascular disease (CVD) risk in autoimmunity. We analyzed genome-wide genotyping data from 6,485 patients from six autoimmune diseases that are associated with a high socio-economic impact. First, for each disease, we tested the association of established CVD risk loci. Second, we analyzed the association of autoimmune disease susceptibility loci with CVD. Finally, to identify genetic patterns associated with CVD risk, we applied the cross-phenotype meta-analysis approach (CPMA) on the genome-wide data. A total of 17 established CVD risk loci were significantly associated with CVD in the autoimmune patient cohorts. From these, four loci were found to have significantly different genetic effects across autoimmune diseases. Six autoimmune susceptibility loci were also found to be associated with CVD risk. Genome-wide CPMA analysis identified 10 genetic clusters strongly associated with CVD risk across all autoimmune diseases. Two of these clusters are highly enriched in pathways previously associated with autoimmune disease etiology (TNFα and IFNγ cytokine pathways). The results of this study support the presence of specific genetic variation associated with the increase of CVD risk observed in autoimmunity.
• dc.description.sponsorship This study was funded by the Spanish Ministry of Economy and Competitiveness (grant numbers: PSE-010000-2006-6 and IPT-010000-2010-36) and by the “Agència de Gestió d’Ajuts Universitaris i de Recerca” (AGAUR, Generalitat de Catalunya, FI-DGR 2016, grant number: 00587). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.
• dc.format.mimetype application/pdf
• dc.identifier.citation Perrotti PP, Aterido A, Fernández-Nebro A, Cañete JD, Ferrándiz C, Tornero J, et al. Genetic variation associated with cardiovascular risk in autoimmune diseases. PLoS ONE. 2017 Oct 5;12(10):e0185889. DOI: 10.1371/journal.pone.0185889
• dc.identifier.doi http://dx.doi.org/10.1371/journal.pone.0185889
• dc.identifier.issn 1932-6203
• dc.identifier.uri http://hdl.handle.net/10230/68296
• dc.language.iso eng
• dc.publisher Public Library of Science (PLoS)
• dc.relation.ispartof PLoS ONE. 2017 Oct 5;12(10):e0185889
• dc.rights © 2017 Perrotti et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
• dc.rights.accessRights info:eu-repo/semantics/openAccess
• dc.rights.uri http://creativecommons.org/licenses/by/4.0/
• dc.subject.other Sistema cardiovascular
• dc.subject.other Genètica
• dc.subject.other Autoimmunitat
• dc.title Genetic variation associated with cardiovascular risk in autoimmune diseases
• dc.type info:eu-repo/semantics/article
• dc.type.version info:eu-repo/semantics/publishedVersion