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Evaluation of 19 autoimmune disease-associated loci with rheumatoid arthritis in a Colombian population: Evidence for replication and gene-gene interaction

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dc.creatorDeshmukh H.A.spa
dc.creatorMaiti A.K.spa
dc.creatorKim-Howard X.R.spa
dc.creatorRojas-Villarraga A.spa
dc.creatorGuthridge J.M.spa
dc.creatorAnaya, Juan-Manuelspa
dc.creatorNath S.K.spa
dc.date.accessioned2020-05-25T23:56:32Z
dc.date.available2020-05-25T23:56:32Z
dc.date.created2011spa
dc.description.abstractObjective. Recent studies have identified several common genes associated with multiple autoimmune diseases that support the hypothesis of the presence of shared or general autoimmunity genes. However, most of this work has been performed in populations of white origin. The main objectives of this study are to replicate the genotype-phenotype correlation between 19 such variants and rheumatoid arthritis (RA), and to evaluate gene-gene interactions between these genes in individuals from an ethnically homogenous nonwhite Colombian population. Methods. Nineteen single-nucleotide polymorphisms (SNP) from 16 genes/loci were genotyped in 353 RA cases and 368 controls. For each SNP, allelic and genotype-based association tests were applied to evaluate genotype-phenotype correlation. Permutation-based tests were used to validate the statistical significance. Gene-gene interactions were assessed by logistic regression. Results. We replicated the genetic association with rs13277113 (p = 0.0009, OR 1.46) and rs2736340 (p = 0.0001, OR 1.63) from C8orf13-BLK (8p23.1, associated with RA and systemic lupus erythematosus), and rs763361 (p = 0.03) from CD226 (18q22.3, associated with multiple sclerosis and type 1 diabetes) in the Colombian population. The population-attributable risks were estimated as 27%, 34%, and 16% for rs13277113, rs2736340, and rs763361, respectively. We also detected evidence for gene-gene interaction between SNP in MMEL1 (rs3890745) and C80rf13-BLK (rs13277113; p = 0.0002). Conclusion. Our results demonstrate that the IL2/IL21 region, C8orf13-BLK, and CD226 influence RA in Colombians, and RA shares some of the pathogenic mechanisms associated with other autoimmune diseases. The Journal of Rheumatology Copyright © 2011. All rights reserved.eng
dc.format.mimetypeapplication/pdf
dc.identifier.doihttps://doi.org/10.3899/jrheum.110199
dc.identifier.issn14992752
dc.identifier.issn0315162X
dc.identifier.urihttps://repository.urosario.edu.co/handle/10336/22452
dc.language.isoengspa
dc.relation.citationEndPage1870
dc.relation.citationIssueNo. 9
dc.relation.citationStartPage1866
dc.relation.citationTitleJournal of Rheumatology
dc.relation.citationVolumeVol. 38
dc.relation.ispartofJournal of Rheumatology, ISSN:14992752, 0315162X, Vol.38, No.9 (2011); pp. 1866-1870spa
dc.relation.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-80052326290&doi=10.3899%2fjrheum.110199&partnerID=40&md5=07e10434b85be427067c72ff4bfc3b17spa
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.keywordAdultspa
dc.subject.keywordgeneticeng
dc.subject.keywordAllelespa
dc.subject.keywordrheumatoideng
dc.subject.keywordArticlespa
dc.subject.keywordAutoimmune diseasespa
dc.subject.keywordC8orf13 blk genespa
dc.subject.keywordCd226 genespa
dc.subject.keywordChromosome 18qspa
dc.subject.keywordChromosome 8pspa
dc.subject.keywordColombianspa
dc.subject.keywordControlled studyspa
dc.subject.keywordEthnic groupspa
dc.subject.keywordEthnicityspa
dc.subject.keywordFemalespa
dc.subject.keywordGenespa
dc.subject.keywordGene interactionspa
dc.subject.keywordGene locusspa
dc.subject.keywordGene mutationspa
dc.subject.keywordGenetic associationspa
dc.subject.keywordGenetic variabilityspa
dc.subject.keywordGenotype phenotype correlationspa
dc.subject.keywordHumanspa
dc.subject.keywordIl2 genespa
dc.subject.keywordIl21 genespa
dc.subject.keywordInsulin dependent diabetes mellitusspa
dc.subject.keywordMajor clinical studyspa
dc.subject.keywordMalespa
dc.subject.keywordMmel1 genespa
dc.subject.keywordMultiple sclerosisspa
dc.subject.keywordMutational analysisspa
dc.subject.keywordPopulation geneticsspa
dc.subject.keywordPriority journalspa
dc.subject.keywordRheumatoid arthritisspa
dc.subject.keywordSingle nucleotide polymorphismspa
dc.subject.keywordArthritiseng
dc.subject.keywordCase-control studiesspa
dc.subject.keywordColombiaspa
dc.subject.keywordEpistasiseng
dc.subject.keywordFemalespa
dc.subject.keywordGenetic association studiesspa
dc.subject.keywordGenetic locispa
dc.subject.keywordGenetic predisposition to diseasespa
dc.subject.keywordGenetic variationspa
dc.subject.keywordGenome-wide association studyspa
dc.subject.keywordHispanic americansspa
dc.subject.keywordHumansspa
dc.subject.keywordMalespa
dc.subject.keywordGene-gene interactionspa
dc.subject.keywordGenetic associationspa
dc.subject.keywordLatin americaspa
dc.subject.keywordRheumatoid arthritisspa
dc.titleEvaluation of 19 autoimmune disease-associated loci with rheumatoid arthritis in a Colombian population: Evidence for replication and gene-gene interactionspa
dc.typearticleeng
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersion
dc.type.spaArtículospa
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