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

Introduction: 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 p...

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Autores Principales: Garavito, Gloria, Egea, Eduardo, Fang, Luis, Malagón, Clara, Olmos, Carlos, González, Luz, Guarnizo, Pilar, Aroca, Gustavo, López, Guillermo, Iglesias, Antonio
Formato: Artículo (Article)
Lenguaje:Español (Spanish)
Publicado: Biomédica 2017
Materias:
Acceso en línea:https://repository.urosario.edu.co/handle/10336/25101
https://doi.org/10.7705/biomedica.v37i3.3247
id ir-10336-25101
recordtype dspace
spelling ir-10336-251012022-05-02T12:37:15Z Association of polymorphic variants of PTPN22, TNF and VDR genes in children with lupus nephritis: A study in Colombian family triads Garavito, Gloria Egea, Eduardo Fang, Luis Malagón, Clara Olmos, Carlos González, Luz Guarnizo, Pilar Aroca, Gustavo López, Guillermo Iglesias, Antonio Alleles Child Colombia Genotype Humans Lupus Erythematosus Systemic Lupus Nephritis Polymorphism Single Nucleotide Protein Tyrosine Phosphatase Non-Receptor Type 22 Receptors Calcitriol Tumor Necrosis Factor-alpha Introduction: 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. 2017-06-01 2020-06-11T13:22:21Z info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion 0120-4157 https://repository.urosario.edu.co/handle/10336/25101 https://doi.org/10.7705/biomedica.v37i3.3247 spa info:eu-repo/semantics/openAccess application/pdf Biomédica instname:Universidad del Rosario
institution EdocUR - Universidad del Rosario
collection DSpace
language Español (Spanish)
topic Alleles
Child
Colombia
Genotype
Humans
Lupus Erythematosus
Systemic
Lupus Nephritis
Polymorphism
Single Nucleotide
Protein Tyrosine Phosphatase
Non-Receptor Type 22
Receptors
Calcitriol
Tumor Necrosis Factor-alpha
spellingShingle Alleles
Child
Colombia
Genotype
Humans
Lupus Erythematosus
Systemic
Lupus Nephritis
Polymorphism
Single Nucleotide
Protein Tyrosine Phosphatase
Non-Receptor Type 22
Receptors
Calcitriol
Tumor Necrosis Factor-alpha
Garavito, Gloria
Egea, Eduardo
Fang, Luis
Malagón, Clara
Olmos, Carlos
González, Luz
Guarnizo, Pilar
Aroca, Gustavo
López, Guillermo
Iglesias, Antonio
Association of polymorphic variants of PTPN22, TNF and VDR genes in children with lupus nephritis: A study in Colombian family triads
description Introduction: 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.
format Artículo (Article)
author Garavito, Gloria
Egea, Eduardo
Fang, Luis
Malagón, Clara
Olmos, Carlos
González, Luz
Guarnizo, Pilar
Aroca, Gustavo
López, Guillermo
Iglesias, Antonio
author_facet Garavito, Gloria
Egea, Eduardo
Fang, Luis
Malagón, Clara
Olmos, Carlos
González, Luz
Guarnizo, Pilar
Aroca, Gustavo
López, Guillermo
Iglesias, Antonio
author_sort Garavito, Gloria
title Association of polymorphic variants of PTPN22, TNF and VDR genes in children with lupus nephritis: A study in Colombian family triads
title_short Association of polymorphic variants of PTPN22, TNF and VDR genes in children with lupus nephritis: A study in Colombian family triads
title_full Association of polymorphic variants of PTPN22, TNF and VDR genes in children with lupus nephritis: A study in Colombian family triads
title_fullStr Association of polymorphic variants of PTPN22, TNF and VDR genes in children with lupus nephritis: A study in Colombian family triads
title_full_unstemmed Association of polymorphic variants of PTPN22, TNF and VDR genes in children with lupus nephritis: A study in Colombian family triads
title_sort association of polymorphic variants of ptpn22, tnf and vdr genes in children with lupus nephritis: a study in colombian family triads
publisher Biomédica
publishDate 2017
url https://repository.urosario.edu.co/handle/10336/25101
https://doi.org/10.7705/biomedica.v37i3.3247
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score 12,131701