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PTPN22 C1858T polymorphism in Colombian patients with autoimmune diseases

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dc.creatorGomez L.M.spa
dc.creatorAnaya, Juan-Manuelspa
dc.creatorGonzalez C.I.spa
dc.creatorPineda-Tamayo R.spa
dc.creatorOtero W.spa
dc.creatorArango A.spa
dc.creatorMartín J.spa
dc.date.accessioned2020-05-26T00:09:06Z
dc.date.available2020-05-26T00:09:06Z
dc.date.created2005spa
dc.description.abstractA functional single nucleotide polymorphism (SNP) C1858T in the protein tyrosine phosphatase nonreceptor 22 (PTPN22) gene encoding an intracellular phosphatase with negative regulatory effects on T-cell activation is associated with some autoimmune diseases in Caucasians. Taking into account firstly, that SNP frequencies may vary across populations and, secondly, that replication studies are important to confirm previous associations, we examined the influence of PTPN22 polymorphism in 621 Colombian patients with four autoimmune diseases. Accordingly, 298 patients with rheumatoid arthritis (RA), 143 with systemic lupus erythematosus (SLE), 70 with primary Sjogren's syndrome (pSS) and 110 with Type 1 diabetes (T1D) were studied. The control group consisted of 308 matched healthy individuals. Genotyping of PTPN22 was performed by the real-time polymerase chain reaction technology, using the TaqMan 5?-allele discrimination assay. The 1858 T allele was found to be a risk factor for pSS (odds ratio (OR)=2.42), SLE (OR=2.56), and T1D (OR =1.83). A lower but nonsignificant trend was observed for RA (OR=1.26). These results confirm the influence of PTPN22 in autoimmunity and indicate that autoimmune phenotypes could represent pleiotropic outcomes of nonspecific disease genes that underlie similar immunogenetic mechanisms. © 2005 Nature Publishing Group. All rights reserved.eng
dc.format.mimetypeapplication/pdf
dc.identifier.doihttps://doi.org/10.1038/sj.gene.6364261
dc.identifier.issn14664879
dc.identifier.issn14765470
dc.identifier.urihttps://repository.urosario.edu.co/handle/10336/24138
dc.language.isoengspa
dc.relation.citationEndPage631
dc.relation.citationIssueNo. 7
dc.relation.citationStartPage628
dc.relation.citationTitleGenes and Immunity
dc.relation.citationVolumeVol. 6
dc.relation.ispartofGenes and Immunity, ISSN:14664879, 14765470, Vol.6, No.7 (2005); pp. 628-631spa
dc.relation.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-27844441281&doi=10.1038%2fsj.gene.6364261&partnerID=40&md5=f321b7ee58a5e5899f11f08411742b0bspa
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.keywordProtein tyrosine phosphatasespa
dc.subject.keywordsingle nucleotideeng
dc.subject.keywordrheumatoideng
dc.subject.keywordProtein tyrosine phosphatase nonreceptor 22spa
dc.subject.keywordtype 1eng
dc.subject.keywordsystemiceng
dc.subject.keywordUnclassified drugspa
dc.subject.keywordArticlespa
dc.subject.keywordAutoimmune diseasespa
dc.subject.keywordAutoimmunityspa
dc.subject.keywordCaucasianspa
dc.subject.keywordColombiaspa
dc.subject.keywordControlled studyspa
dc.subject.keywordDna polymorphismspa
dc.subject.keywordGene frequencyspa
dc.subject.keywordGene replicationspa
dc.subject.keywordGenetic codespa
dc.subject.keywordGenotypespa
dc.subject.keywordHumanspa
dc.subject.keywordImmunogeneticsspa
dc.subject.keywordInsulin dependent diabetes mellitusspa
dc.subject.keywordIntracellular spacespa
dc.subject.keywordMajor clinical studyspa
dc.subject.keywordPhenotypespa
dc.subject.keywordPriority journalspa
dc.subject.keywordReal time polymerase chain reactionspa
dc.subject.keywordRheumatoid arthritisspa
dc.subject.keywordRisk factorspa
dc.subject.keywordSingle nucleotide polymorphismspa
dc.subject.keywordSjoegren syndromespa
dc.subject.keywordSystemic lupus erythematosusspa
dc.subject.keywordT lymphocyte activationspa
dc.subject.keywordAdultspa
dc.subject.keywordAgedspa
dc.subject.keywordAllelesspa
dc.subject.keywordArthritiseng
dc.subject.keywordAutoimmune diseasesspa
dc.subject.keywordColombiaspa
dc.subject.keywordDiabetes mellituseng
dc.subject.keywordEuropean continental ancestry groupspa
dc.subject.keywordFemalespa
dc.subject.keywordHumansspa
dc.subject.keywordLupus erythematosuseng
dc.subject.keywordMalespa
dc.subject.keywordMiddle agedspa
dc.subject.keywordPolymorphismeng
dc.subject.keywordProtein-tyrosine-phosphatasespa
dc.subject.keywordSjogren's syndromespa
dc.subject.keywordColombiaspa
dc.subject.keywordDiabetes mellitusspa
dc.subject.keywordPtpn22spa
dc.subject.keywordRheumatoid arthritisspa
dc.subject.keywordSjögren's syndromespa
dc.subject.keywordSystemic lupus erythematosusspa
dc.titlePTPN22 C1858T polymorphism in Colombian patients with autoimmune diseasesspa
dc.typearticleeng
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersion
dc.type.spaArtículospa
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