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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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 |
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EdocUR - Universidad del Rosario |
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Español (Spanish) |
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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 |
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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 |
_version_ |
1740172463113764864 |
score |
12,131701 |