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Study of the role of functional variants of SLC22A4, RUNX1 and SUMO4 in systemic lupus erythematosus

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dc.creatorOrozco G.spa
dc.creatorSánchez E.spa
dc.creatorGómez L.M.spa
dc.creatorGonzález-Gay M.A.spa
dc.creatorLópez-Nevot M.A.spa
dc.creatorTorres B.spa
dc.creatorOrtego-Centeno N.spa
dc.creatorJiménez-Alonso J.spa
dc.creatorDe Ramón E.spa
dc.creatorSánchez Román J.spa
dc.creatorAnaya, Juan-Manuelspa
dc.creatorSturfelt G.spa
dc.creatorGunnarsson I.spa
dc.creatorSvennungsson E.spa
dc.creatorAlarcón-Riquelme M.spa
dc.creatorGonzález-Escribano M.F.spa
dc.creatorMartín J.spa
dc.date.accessioned2020-05-25T23:56:10Z
dc.date.available2020-05-25T23:56:10Z
dc.date.created2006spa
dc.description.abstractBackground: Functional polymorphisms of the solute carrier family 22, member 4 (SLC22A4), runt related transcription factor 1 (RUNX1) and small ubiquitin-like modifier 4 (SUMO-4) genes have been shown to be associated with several autoimmune diseases. Objective: To test the possible role of these variants in susceptibility to or severity of systemic lupus erythematosus (SLE), on the basis that common genetic bases are shared by autoimmune disorders. Methods: 597 SLE patients and 987 healthy controls of white Spanish origin were studied. Two additional cohorts of 228 SLE patients from Sweden and 122 SLE patients from Colombia were included. A case-control association study was carried out with six single nucleotide polymorphisms (SNP) spanning the SLC22A4 gene, one SNP in RUNX1 gene, and one additional SNP in SUM04 gene. Results: No significant differences were observed between SLE patients and healthy controls when comparing the distribution of the genotypes or alleles of any of the SLC22A4, RUNX1, or SUMO4 polymorphisms tested. Significant differences were found in the distribution of the SUMO4 genotypes and alleles among SLE patients with and without nephritis, but after multiple testing correction, the significance of the association was lost. The association of SUMO4 with nephritis could not be verified in two independent SLE cohorts from Sweden and Colombia. Conclusions: These results suggest that the SLC22A4, RUNX1, and SUMO4 polymorphisms analysed do not play a role in the susceptibility to or severity of SLE.eng
dc.format.mimetypeapplication/pdf
dc.identifier.doihttps://doi.org/10.1136/ard.2005.044891
dc.identifier.issn00034967
dc.identifier.issn14682060
dc.identifier.urihttps://repository.urosario.edu.co/handle/10336/22345
dc.language.isoengspa
dc.relation.citationEndPage795
dc.relation.citationIssueNo. 6
dc.relation.citationStartPage791
dc.relation.citationTitleAnnals of the Rheumatic Diseases
dc.relation.citationVolumeVol. 65
dc.relation.ispartofAnnals of the Rheumatic Diseases, ISSN:00034967, 14682060, Vol.65, No.6 (2006); pp. 791-795spa
dc.relation.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-33744504186&doi=10.1136%2fard.2005.044891&partnerID=40&md5=28d19d1b26ec4f240327bf43912953f0spa
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.keywordMembrane proteinspa
dc.subject.keywordsystemiceng
dc.subject.keywordProtein slc22a4spa
dc.subject.keywordgeneticeng
dc.subject.keywordSumo proteinspa
dc.subject.keywordTranscription factor runx1spa
dc.subject.keywordUnclassified drugspa
dc.subject.keywordAdultspa
dc.subject.keywordAllelespa
dc.subject.keywordArticlespa
dc.subject.keywordAutoimmune diseasespa
dc.subject.keywordColombiaspa
dc.subject.keywordControlled studyspa
dc.subject.keywordDisease severityspa
dc.subject.keywordGene linkage disequilibriumspa
dc.subject.keywordGenetic susceptibilityspa
dc.subject.keywordGenotypespa
dc.subject.keywordHumanspa
dc.subject.keywordMajor clinical studyspa
dc.subject.keywordNephritisspa
dc.subject.keywordPriority journalspa
dc.subject.keywordSingle nucleotide polymorphismspa
dc.subject.keywordSpainspa
dc.subject.keywordSwedenspa
dc.subject.keywordSystemic lupus erythematosusspa
dc.subject.keywordAdultspa
dc.subject.keywordAllelesspa
dc.subject.keywordCase-control studiesspa
dc.subject.keywordChi-square distributionspa
dc.subject.keywordCore binding factor alpha 2 subunitspa
dc.subject.keywordFemalespa
dc.subject.keywordGenetic predisposition to diseasespa
dc.subject.keywordGenotypespa
dc.subject.keywordHumansspa
dc.subject.keywordLupus erythematosuseng
dc.subject.keywordMalespa
dc.subject.keywordMiddle agedspa
dc.subject.keywordOdds ratiospa
dc.subject.keywordOrganic cation transport proteinsspa
dc.subject.keywordPolymorphismeng
dc.subject.keywordSmall ubiquitin-related modifier proteinsspa
dc.titleStudy of the role of functional variants of SLC22A4, RUNX1 and SUMO4 in systemic lupus erythematosusspa
dc.typearticleeng
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersion
dc.type.spaArtículospa
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