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Variation in the ICAM1-ICAM4-ICAM5 locus is associated with systemic lupus erythematosus susceptibility in multiple ancestries

dc.creatorKim, Kwangwoospa
dc.creatorBrown, Elizabeth Espa
dc.creatorChoi, Chan-Bumspa
dc.creatorAlarcón-Riquelme, Marta Espa
dc.creatorKelly, Jennifer Aspa
dc.creatorGlenn, Stuart Bspa
dc.creatorOjwang, Joshua Ospa
dc.creatorAdler, Adamspa
dc.creatorLee, Hye-Soonspa
dc.creatorBoackle, Susan Aspa
dc.creatorCriswell, Lindsey Aspa
dc.creatorAlarcón, Graciela Sspa
dc.creatorEdberg, Jeffrey Cspa
dc.creatorStevens, Anne Mspa
dc.creatorJacob, Chaim Ospa
dc.creatorGilkeson, Gary Sspa
dc.creatorKamen, Diane Lspa
dc.creatorTsao, Betty Pspa
dc.creatorAnaya, Juan-Manuelspa
dc.creatorGuthridge, Joel Mspa
dc.creatorNath, Swapan Kspa
dc.creatorRichardson, Brucespa
dc.creatorSawalha, Amr Hspa
dc.creatorKang, Young Mospa
dc.creatorShim, Seung Cheolspa
dc.creatorSuh, Chang-Heespa
dc.creatorLee, Soo-Konspa
dc.creatorKim, Chang-sikspa
dc.creatorMerrill, Joan Tspa
dc.creatorPetri, Michellespa
dc.creatorRamsey-Goldman, Rosalindspa
dc.creatorVilá, Luis Mspa
dc.creatorNiewold, Timothy Bspa
dc.creatorMartin, Javierspa
dc.creatorPons-Estel, Bernardo Aspa
dc.creatorVyse, Timothy Jspa
dc.creatorFreedman, Barry Ispa
dc.creatorMoser, Kathy Lspa
dc.creatorGaffney, Patrick Mspa
dc.creatorWilliams, Adriennespa
dc.creatorComeau, Maryspa
dc.creatorReveille, John Dspa
dc.creatorJames, Judith Aspa
dc.creatorScofield, R Halspa
dc.creatorLangefeld, Carl Dspa
dc.creatorKaufman, Kenneth Mspa
dc.creatorHarley, John Bspa
dc.creatorKang, Changwonspa
dc.creatorKimberly, Robert Pspa
dc.creatorBae, Sang-Cheolspa
dc.date.accessioned2020-05-25T23:56:23Z
dc.date.available2020-05-25T23:56:23Z
dc.date.created2012spa
dc.description.abstractObjective: Systemic lupus erythematosus (SLE; OMIM 152700) is a chronic autoimmune disease for which the aetiology includes genetic and environmental factors. ITGAM, integrin ?M(complement component 3 receptor 3 subunit) encoding a ligand for intracellular adhesion molecule (ICAM) proteins, is an established SLE susceptibility locus. This study aimed to evaluate the independent and joint effects of genetic variations in the genes that encode ITGAM and ICAM. Methods: The authors examined several markers in the ICAM1-ICAM4-ICAM5 locus on chromosome 19p13 and the single ITGAM polymorphism (rs1143679) using a large-scale case-control study of 17 481 unrelated participants from four ancestry populations. The singlemarker association and gene-gene interaction were analysed for each ancestry, and a meta-analysis across the four ancestries was performed. Results: The A-allele of ICAM1-ICAM4-ICAM5 rs3093030, associated with elevated plasma levels of soluble ICAM1, and the A-allele of ITGAM rs1143679 showed the strongest association with increased SLE susceptibility in each of the ancestry populations and the trans-ancestry meta-analysis (ORmeta=1.16, 95% CI 1.11 to 1.22; p=4.88 × 10-10 and ORmeta=1.67, 95% CI 1.55 to 1.79; p=3.32 × 10-46, respectively). The effect of the ICAM single-nucleotide polymorphisms (SNPs) was independent of the effect of the ITGAM SNP rs1143679, and carriers of both ICAM rs3093030-AA and ITGAM rs1143679-AA had an OR of 4.08 compared with those with no risk allele in either SNP (95% CI 2.09 to 7.98; p=3.91 × 10-5). Conclusion: These findings are the first to suggest that an ICAM-integrin-mediated pathway contributes to susceptibility to SLE.eng
dc.format.mimetypeapplication/pdf
dc.identifier.doihttps://doi.org/10.1136/annrheumdis-2011-201110
dc.identifier.issn00034967
dc.identifier.issn14682060
dc.identifier.urihttps://repository.urosario.edu.co/handle/10336/22411
dc.language.isoengspa
dc.relation.citationEndPage1814
dc.relation.citationIssueNo. 11
dc.relation.citationStartPage1809
dc.relation.citationTitleAnnals of the Rheumatic Diseases
dc.relation.citationVolumeVol. 71
dc.relation.ispartofAnnals of the Rheumatic Diseases, ISSN:00034967, 14682060, Vol.71, No.11 (2012); pp. 1809-1814spa
dc.relation.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-84867402906&doi=10.1136%2fannrheumdis-2011-201110&partnerID=40&md5=3b56e149d56e7259c72ff6cd1f1cf42dspa
dc.rights.accesRightsinfo:eu-repo/semantics/openAccess
dc.rights.accesoAbierto (Texto Completo)spa
dc.source.instnameinstname:Universidad del Rosariospa
dc.source.reponamereponame:Repositorio Institucional EdocURspa
dc.subject.keywordAlpha integrinspa
dc.subject.keywordIntegrin alpha mspa
dc.subject.keywordsystemiceng
dc.subject.keywordsingle nucleotideeng
dc.subject.keywordpopulationeng
dc.subject.keywordIntercellular adhesion molecule 1spa
dc.subject.keywordUnclassified drugspa
dc.subject.keywordArticlespa
dc.subject.keywordAsianspa
dc.subject.keywordCase control studyspa
dc.subject.keywordCaucasianspa
dc.subject.keywordChromosome 19pspa
dc.subject.keywordControlled studyspa
dc.subject.keywordGene expressionspa
dc.subject.keywordGene interactionspa
dc.subject.keywordGene locusspa
dc.subject.keywordGenetic associationspa
dc.subject.keywordGenetic riskspa
dc.subject.keywordGenetic susceptibilityspa
dc.subject.keywordGenetic variabilityspa
dc.subject.keywordHispanicspa
dc.subject.keywordHumanspa
dc.subject.keywordIntercellular adhesion molecule 1 genespa
dc.subject.keywordIntercellular adhesion molecule 4 genespa
dc.subject.keywordIntercellular adhesion molecule 5 genespa
dc.subject.keywordKoreanspa
dc.subject.keywordMajor clinical studyspa
dc.subject.keywordNegrospa
dc.subject.keywordPriority journalspa
dc.subject.keywordQuantitative trait locusspa
dc.subject.keywordSingle nucleotide polymorphismspa
dc.subject.keywordSystemic lupus erythematosusspa
dc.subject.keywordCell adhesion moleculesspa
dc.subject.keywordContinental population groupsspa
dc.subject.keywordGenetic markersspa
dc.subject.keywordGenetic predisposition to diseasespa
dc.subject.keywordGeneticseng
dc.subject.keywordGenome-wide association studyspa
dc.subject.keywordHumansspa
dc.subject.keywordIntercellular adhesion molecule-1spa
dc.subject.keywordLupus erythematosuseng
dc.subject.keywordNerve tissue proteinsspa
dc.subject.keywordPolymorphismeng
dc.titleVariation in the ICAM1-ICAM4-ICAM5 locus is associated with systemic lupus erythematosus susceptibility in multiple ancestriesspa
dc.typearticleeng
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersion
dc.type.spaArtículospa
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