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Association of polymorphic variants of PTPN22, TNF and VDR systems in children with lupus nephritis: A study in trios of Colombian families

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dc.creatorGaravito G.spa
dc.creatorEgea E.spa
dc.creatorFang L.spa
dc.creatorMalagón C.spa
dc.creatorOlmos C.spa
dc.creatorGonzález L.spa
dc.creatorGuarnizo P.spa
dc.creatorAroca G.spa
dc.creatorLópez G.spa
dc.creatorIglesias A.spa
dc.date.accessioned2020-05-26T00:02:58Z
dc.date.available2020-05-26T00:02:58Z
dc.date.created2017spa
dc.description.abstractIntroduction: Systemic lupus erythematosus is an autoimmune disease with severity that varies according to race, gender and age of onset. This variation is also observed in genetic markers associated with the disease, present in the PTPN22, VDR, and TNF genes. It is possible that the genetic stratification observed in different populations in the world can be influencing this variability. Objective: To analyze the association and heritability of PTPN22, VDR and TNF gene variants with pediatric lupus nephritis (PLN) in Colombian families. Materials and methods: a study based on 46 trios (Case / parents) was performed. Genotyping by qPCR of variants of rs2476601 in PTPN22; rs361525 and rs1800629 in TNF; TaqI [rs731236], ApaI [rs7975232] BsmI [rs1544410] and FokI [rs2228570] in VDR was performed. The effect of the risk of allele over-transmission through families and linkage disequilibrium of VDR and TNF loci was estimated. Results: We observed that the A allele of rs2476601 in PTPN22 was distributed in 8.69% [n = 16] parents, and increased to 19.5% [n = 18] in cases. Over-transmission of this allele was also observed from parents to offspring 17 times relative to the G allele (p = 0.028). TNF and VDR polymorphisms were not overtransmitted. SNPs TaqI, ApaI y BsmI in VDR showed linkage disequilibrium. Conclusion: These findings seem to demonstrate an association of rs2476601 in PTPN22 with PLN due to its overtransmission in the group of families studied.eng
dc.format.mimetypeapplication/pdf
dc.identifier.urihttps://repository.urosario.edu.co/handle/10336/23546
dc.language.isoengspa
dc.publisherInstituto Nacional de Saludspa
dc.relation.citationEndPage23
dc.relation.citationIssueNo. 2
dc.relation.citationStartPage1
dc.relation.citationTitleBiomedica
dc.relation.citationVolumeVol. 37
dc.relation.ispartofBiomedica, Vol.37, No.2 (2017); pp. 1-23spa
dc.relation.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-85018408109&partnerID=40&md5=f9c629338e62d37b75c938c08468e08fspa
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.keywordGenetic association studiesspa
dc.subject.keywordLinkage disequilibriumspa
dc.subject.keywordLupus erythematosusspa
dc.subject.keywordLupus erythematosusspa
dc.subject.keywordSystemicspa
dc.subject.keywordSystemicspa
dc.titleAssociation of polymorphic variants of PTPN22, TNF and VDR systems in children with lupus nephritis: A study in trios of Colombian familiesspa
dc.title.TranslatedTitleAsociación de variantes polimórficas de los sistemas PTPN22, TNF y VDR en niños con nefritis lúpica: Un estudio en tríos de familias colombianasspa
dc.typearticleeng
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersion
dc.type.spaArtículospa
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