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Phenotypic associations of genetic susceptibility loci in systemic lupus erythematosus

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dc.creatorSanchez E.spa
dc.creatorNadig A.spa
dc.creatorRichardson B.C.spa
dc.creatorFreedman B.I.spa
dc.creatorKaufman K.M.spa
dc.creatorKelly J.A.spa
dc.creatorNiewold T.B.spa
dc.creatorKamen D.L.spa
dc.creatorGilkeson G.S.spa
dc.creatorZiegler J.T.spa
dc.creatorLangefeld C.D.spa
dc.creatorAlarcón G.S.spa
dc.creatorEdberg J.C.spa
dc.creatorRamsey-Goldman R.spa
dc.creatorPetri M.spa
dc.creatorBrown E.E.spa
dc.creatorKimberly R.P.spa
dc.creatorReveille J.D.spa
dc.creatorVilá L.M.spa
dc.creatorMerrill J.T.spa
dc.creatorAnaya, Juan-Manuelspa
dc.creatorJames J.A.spa
dc.creatorPons-Estel B.A.spa
dc.creatorMartin J.spa
dc.creatorPark S.-Y.spa
dc.creatorBang S.-Y.spa
dc.creatorBae S.-C.spa
dc.creatorMoser K.L.spa
dc.creatorVyse T.J.spa
dc.creatorCriswell L.A.spa
dc.creatorGaffney P.M.spa
dc.creatorTsao B.P.spa
dc.creatorJacob C.O.spa
dc.creatorHarley J.B.spa
dc.creatorAlarcón-Riquelme M.E.spa
dc.creatorSawalha A.H.spa
dc.date.accessioned2020-05-25T23:56:20Z
dc.date.available2020-05-25T23:56:20Z
dc.date.created2011spa
dc.description.abstractObjective: Systemic lupus erythematosus is a clinically heterogeneous autoimmune disease. A number of genetic loci that increase lupus susceptibility have been established. This study examines if these genetic loci also contribute to the clinical heterogeneity in lupus. Materials and methods: 4001 European-derived, 547 Hispanic, 1590 African-American and 1191 Asian lupus patients were genotyped for 16 confirmed lupus susceptibility loci. Ancestry informative markers were genotyped to calculate and adjust for admixture. The association between the risk allele in each locus was determined and compared in patients with and without the various clinical manifestations included in the ACR criteria. Results: Renal disorder was significantly correlated with the lupus risk allele in ITGAM (p=5.0 × 10-6, OR 1.25, 95% CI 1.12 to 1.35) and in TNFSF4 (p=0.0013, OR 1.14, 95% CI 1.07 to 1.25). Other significant findings include the association between risk alleles in FCGR2A and malar rash (p=0.0031, OR 1.11, 95% CI 1.17 to 1.33), ITGAM and discoid rash (p=0.0020, OR 1.20, 95% CI 1.06 to 1.33), STAT4 and protection from oral ulcers (p=0.0027, OR 0.89, 95% CI 0.83 to 0.96) and IL21 and haematological disorder (p=0.0027, OR 1.13, 95% CI 1.04 to 1.22). All these associations are significant with a false discovery rate of and lt;0.05 and pass the significance threshold using Bonferroni correction for multiple testing. Conclusion: Significant associations were found between lupus clinical manifestations and the FCGR2A, ITGAM, STAT4, TNSF4 and IL21 genes. The findings suggest that genetic profiling might be a useful tool to predict disease manifestations in lupus patients in the future.eng
dc.format.mimetypeapplication/pdf
dc.identifier.doihttps://doi.org/10.1136/ard.2011.154104
dc.identifier.issn00034967
dc.identifier.issn14682060
dc.identifier.urihttps://repository.urosario.edu.co/handle/10336/22400
dc.language.isoengspa
dc.relation.citationEndPage1757
dc.relation.citationIssueNo. 10
dc.relation.citationStartPage1752
dc.relation.citationTitleAnnals of the Rheumatic Diseases
dc.relation.citationVolumeVol. 70
dc.relation.ispartofAnnals of the Rheumatic Diseases, ISSN:00034967, 14682060, Vol.70, No.10 (2011); pp. 1752-1757spa
dc.relation.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-80052461085&doi=10.1136%2fard.2011.154104&partnerID=40&md5=c76823864585427a58f54f18fbbe7d0bspa
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.keywordCD11b antigenspa
dc.subject.keywordSystemiceng
dc.subject.keywordSingle Nucleotideeng
dc.subject.keywordCytotoxic T lymphocyte antigen 4spa
dc.subject.keywordDiscoideng
dc.subject.keywordFc receptor iiaspa
dc.subject.keywordInterleukin 21spa
dc.subject.keywordIntermedinspa
dc.subject.keywordIntermedin 5spa
dc.subject.keywordMethyl cpg binding protein 2spa
dc.subject.keywordNon receptor protein tyrosine phosphatase 22spa
dc.subject.keywordOX40 ligandspa
dc.subject.keywordProgrammed death 1 receptorspa
dc.subject.keywordSTAT4 proteinspa
dc.subject.keywordUnclassified drugspa
dc.subject.keywordAdultspa
dc.subject.keywordAfrican Americanspa
dc.subject.keywordArticlespa
dc.subject.keywordAsianspa
dc.subject.keywordDiscoid lupus erythematosusspa
dc.subject.keywordEthnic groupspa
dc.subject.keywordEuropeanspa
dc.subject.keywordFemalespa
dc.subject.keywordGene frequencyspa
dc.subject.keywordGene locusspa
dc.subject.keywordGenetic predispositionspa
dc.subject.keywordGenetic susceptibilityspa
dc.subject.keywordGenotypespa
dc.subject.keywordHematologic diseasespa
dc.subject.keywordHispanicspa
dc.subject.keywordHumanspa
dc.subject.keywordInflammationspa
dc.subject.keywordKidney diseasespa
dc.subject.keywordMajor clinical studyspa
dc.subject.keywordMalespa
dc.subject.keywordMouth ulcerspa
dc.subject.keywordNeurologic diseasespa
dc.subject.keywordOnset agespa
dc.subject.keywordPhenotypespa
dc.subject.keywordPhotosensitivityspa
dc.subject.keywordPriority journalspa
dc.subject.keywordRashspa
dc.subject.keywordSingle nucleotide polymorphismspa
dc.subject.keywordSystemic lupus erythematosusspa
dc.subject.keywordAdultspa
dc.subject.keywordAfrican Americansspa
dc.subject.keywordAsian Continental Ancestry Groupspa
dc.subject.keywordEuropean Continental Ancestry Groupspa
dc.subject.keywordFemalespa
dc.subject.keywordGenetic Locispa
dc.subject.keywordGenetic Predisposition to Diseasespa
dc.subject.keywordGenotypespa
dc.subject.keywordHumansspa
dc.subject.keywordLupus Erythematosuseng
dc.subject.keywordLupus Erythematosuseng
dc.subject.keywordLupus Nephritisspa
dc.subject.keywordMalespa
dc.subject.keywordMiddle Agedspa
dc.subject.keywordOral Ulcerspa
dc.subject.keywordPhenotypespa
dc.subject.keywordPolymorphismeng
dc.subject.keywordYoung Adultspa
dc.titlePhenotypic associations of genetic susceptibility loci in systemic lupus erythematosusspa
dc.typearticleeng
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersion
dc.type.spaArtículospa
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