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Association of polymorphic variants of PTPN22, TNF and VDR genes in children with lupus nephritis: A study in Colombian family triads

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dc.creatorGaravito, Gloriaspa
dc.creatorEgea, Eduardospa
dc.creatorFang, Luisspa
dc.creatorMalagón, Claraspa
dc.creatorOlmos, Carlosspa
dc.creatorGonzález, Luzspa
dc.creatorGuarnizo, Pilarspa
dc.creatorAroca, Gustavospa
dc.creatorLópez, Guillermospa
dc.creatorIglesias, Antoniospa
dc.date.accessioned2020-06-11T13:22:21Z
dc.date.available2020-06-11T13:22:21Z
dc.date.created2017-06-01spa
dc.description.abstractIntroduction: Systemic lupus erythematosus is an autoimmune disease in which the severity varies according to race, sex and age of onset. This variation is also observed in the genetic markers associated with the disease, including PTPN22, VDR and TNF genes. The genetic stratification in different populations worldwide can influence the variability.Objective: To analyze the heritability of PTPN22, VDR and TNF genetic variants and their association with pediatric lupus nephritis in Colombian families.Materials and methods: We conducted a family-based study including 46 triads (case, father and mother). The variants rs2476601 of PTPN22; rs361525 and rs1800629 of TNF, and TaqI [rs731236], ApaI [rs7975232], BsmI [rs1544410] and FokI [rs2228570] of VDR were genotyped by qPCR. The effects of overtransmission of the risk allele from parents to children and linkage disequilibrium at the VDR and TNF loci were estimated.Results: We found that allele A of rs2476601 in PTPN22 was distributed among 8.69 % (n=16) of the parents and 19.5 % (n=18) of the cases; this allele was overtransmitted from parents to children 17 times more often than the G allele (p=0.028). TNF and VDR polymorphisms did not exhibit transmission disequilibrium. VDR TaqI, ApaI and BsmI variants exhibited linkage disequilibrium.Conclusion: These findings showed an association between the PTPN22 rs2476601 polymorphism and pediatric lupus nephritis due to its overtransmission in the group of families studied.spa
dc.format.mimetypeapplication/pdf
dc.identifier.doihttps://doi.org/10.7705/biomedica.v37i3.3247
dc.identifier.issn0120-4157
dc.identifier.urihttps://repository.urosario.edu.co/handle/10336/25101
dc.language.isospa
dc.publisherBiomédicaspa
dc.relation.citationEndPage266
dc.relation.citationIssueNo. 2
dc.relation.citationStartPage260
dc.relation.citationTitleBiomédica
dc.relation.citationVolumeVol. 37
dc.relation.ispartofBiomédica, ISSN: 0120-4157, Vol.37, No.2 (2017-06-01); pp. 260-266spa
dc.relation.urihttps://revistabiomedica.org/index.php/biomedica/article/download/3247/3530spa
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.keywordAllelesspa
dc.subject.keywordChildspa
dc.subject.keywordColombiaspa
dc.subject.keywordGenotypespa
dc.subject.keywordHumansspa
dc.subject.keywordLupus Erythematosusspa
dc.subject.keywordSystemicspa
dc.subject.keywordLupus Nephritisspa
dc.subject.keywordPolymorphismspa
dc.subject.keywordSingle Nucleotidespa
dc.subject.keywordProtein Tyrosine Phosphatasespa
dc.subject.keywordNon-Receptor Type 22spa
dc.subject.keywordReceptorsspa
dc.subject.keywordCalcitriolspa
dc.subject.keywordTumor Necrosis Factor-alphaspa
dc.titleAssociation of polymorphic variants of PTPN22, TNF and VDR genes in children with lupus nephritis: A study in Colombian family triadsspa
dc.typearticleeng
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersion
dc.type.spaArtículospa
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