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CCL3L1 gene-containing segmental duplications and polymorphisms in CCR5 affect risk of systemic lupus erythaematosus

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dc.creatorMamtani, Mspa
dc.creatorRovin, Bspa
dc.creatorBrey, Rspa
dc.creatorCamargo, J Fspa
dc.creatorKulkarni, Hspa
dc.creatorHerrera, Mspa
dc.creatorCorrea, Pspa
dc.creatorHolliday, Sspa
dc.creatorAnaya, Juan-Manuelspa
dc.creatorAhuja, S Kspa
dc.date.accessioned2020-05-25T23:56:13Z
dc.date.available2020-05-25T23:56:13Z
dc.date.created2008spa
dc.description.abstractObjectives: There is an enrichment of immune response genes that are subject to copy number variations (CNVs). However, there is limited understanding of their impact on susceptibility to human diseases. CC chemokine ligand 3 like-1 (CCL3L1) is a potent ligand for the HIV coreceptor, CC chemokine receptor 5 (CCR5), and we have demonstrated previously an association between CCL3L1-gene containing segmental duplications and polymorphisms in CCR5 and HIV/AIDS susceptibility. Here, we determined the association between these genetic variations and risk of developing systemic lupus erythaematosus (SLE), differential recruitment of CD3+ and CD68+ leukocytes to the kidney, clinical severity of SLE reflected by autoantibody titres and the risk of renal complications in SLE. Methods: We genotyped 1084 subjects (469 cases of SLE and 615 matched controls with no autoimmune disease) from three geographically distinct cohorts for variations in CCL3L1 and CCR5. Results: Deviation from the average copy number of CCL3L1 found in European populations increased the risk of SLE and modified the SLE-influencing effects of CCR5 haplotypes. The CCR5 human haplogroup (HH)E and CCR5-?32-bearing HHG*2 haplotypes were associated with an increased risk of developing SLE. An individual's CCL3L1-CCR5 genotype strongly predicted the overall risk of SLE, high autoantibody titres, and lupus nephritis as well as the differential recruitment of leukocytes in subjects with lupus nephritis. The CCR5 HHE/HHG*2 genotype was associated with the maximal risk of developing SLE. Conclusion: CCR5 haplotypes HHE and HHG*2 strongly influence the risk of SLE. The copy number of CCL3L1 influences risk of SLE and modifies the SLE-influencing effects associated with CCR5 genotypes. These findings implicate a key role of the CCL3L1-CCR5 axis in the pathogenesis of SLE.eng
dc.format.mimetypeapplication/pdf
dc.identifier.doihttps://doi.org/10.1136/ard.2007.078048
dc.identifier.issn00034967
dc.identifier.issn14682060
dc.identifier.urihttps://repository.urosario.edu.co/handle/10336/22367
dc.language.isoengspa
dc.relation.citationEndPage1083
dc.relation.citationIssueNo. 8
dc.relation.citationStartPage1076
dc.relation.citationTitleAnnals of the Rheumatic Diseases
dc.relation.citationVolumeVol. 67
dc.relation.ispartofAnnals of the Rheumatic Diseases, ISSN:00034967, 14682060, Vol.67, No.8 (2008); pp. 1076-1083spa
dc.relation.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-47949087731&doi=10.1136%2fard.2007.078048&partnerID=40&md5=0d375930e16152b43b36d7e43c9a835dspa
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.keywordChemokine receptor CCR5spa
dc.subject.keywordSystemiceng
dc.subject.keywordMacrophage inflammatory protein 1alphaspa
dc.subject.keywordDifferentiationeng
dc.subject.keywordCCR5eng
dc.subject.keywordCDeng
dc.subject.keywordCD3eng
dc.subject.keywordGeneticeng
dc.subject.keywordLeukocyteeng
dc.subject.keywordAdultspa
dc.subject.keywordMyelomonocyticeng
dc.subject.keywordAntibody titerspa
dc.subject.keywordArticlespa
dc.subject.keywordCohort analysisspa
dc.subject.keywordControlled studyspa
dc.subject.keywordDNA polymorphismspa
dc.subject.keywordFemalespa
dc.subject.keywordGene duplicationspa
dc.subject.keywordGenetic riskspa
dc.subject.keywordGenetic variabilityspa
dc.subject.keywordGenotype phenotype correlationspa
dc.subject.keywordHumanspa
dc.subject.keywordLupus erythematosus nephritisspa
dc.subject.keywordMajor clinical studyspa
dc.subject.keywordMalespa
dc.subject.keywordPriority journalspa
dc.subject.keywordSystemic lupus erythematosusspa
dc.subject.keywordAdultspa
dc.subject.keywordAntigenseng
dc.subject.keywordAntigenseng
dc.subject.keywordAntigenseng
dc.subject.keywordAutoantibodiesspa
dc.subject.keywordCase-Control Studiesspa
dc.subject.keywordChemokine CCL3spa
dc.subject.keywordChemotaxiseng
dc.subject.keywordFemalespa
dc.subject.keywordGene Dosagespa
dc.subject.keywordGenetic Predisposition to Diseasespa
dc.subject.keywordGenotypespa
dc.subject.keywordHumansspa
dc.subject.keywordKidneyspa
dc.subject.keywordLeukocytesspa
dc.subject.keywordLogistic Modelsspa
dc.subject.keywordLupus Erythematosuseng
dc.subject.keywordLupus Nephritisspa
dc.subject.keywordMalespa
dc.subject.keywordMiddle Agedspa
dc.subject.keywordPolymorphismeng
dc.subject.keywordProspective Studiesspa
dc.subject.keywordReceptorseng
dc.subject.keywordRiskspa
dc.titleCCL3L1 gene-containing segmental duplications and polymorphisms in CCR5 affect risk of systemic lupus erythaematosusspa
dc.typearticleeng
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersion
dc.type.spaArtículospa
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