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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ftdoajarticles:oai:doaj.org/article:c2ea825de6c34a5499cbb35526823892 2023-05-15T15:10:55+02:00 Association of polymorphic variants of PTPN22, TNF and VDR genes in children with lupus nephritis: A study in Colombian family triads Gloria Garavito Eduardo Egea Luis Fang Clara Malagón Carlos Olmos Luz González Pilar Guarnizo Gustavo Aroca Guillermo López Antonio Iglesias 2017-06-01T00:00:00Z https://doi.org/10.7705/biomedica.v37i3.3247 https://doaj.org/article/c2ea825de6c34a5499cbb35526823892 EN ES eng spa Instituto Nacional de Salud https://www.revistabiomedica.org/index.php/biomedica/article/view/3247 https://doaj.org/toc/0120-4157 0120-4157 doi:10.7705/biomedica.v37i3.3247 https://doaj.org/article/c2ea825de6c34a5499cbb35526823892 Biomédica: revista del Instituto Nacional de Salud, Vol 37, Iss 2, Pp 260-266 (2017) Lupus erythematosus systemic lupus nephritis linkage disequilibrium genetic association studies Medicine R Arctic medicine. Tropical medicine RC955-962 article 2017 ftdoajarticles https://doi.org/10.7705/biomedica.v37i3.3247 2022-12-31T02:07:45Z 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. Article in Journal/Newspaper Arctic Directory of Open Access Journals: DOAJ Articles Arctic Biomédica 37 2 |
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Lupus erythematosus systemic lupus nephritis linkage disequilibrium genetic association studies Medicine R Arctic medicine. Tropical medicine RC955-962 |
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Lupus erythematosus systemic lupus nephritis linkage disequilibrium genetic association studies Medicine R Arctic medicine. Tropical medicine RC955-962 Gloria Garavito Eduardo Egea Luis Fang Clara Malagón Carlos Olmos Luz González Pilar Guarnizo Gustavo Aroca Guillermo López Antonio Iglesias Association of polymorphic variants of PTPN22, TNF and VDR genes in children with lupus nephritis: A study in Colombian family triads |
topic_facet |
Lupus erythematosus systemic lupus nephritis linkage disequilibrium genetic association studies Medicine R Arctic medicine. Tropical medicine RC955-962 |
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 |
Article in Journal/Newspaper |
author |
Gloria Garavito Eduardo Egea Luis Fang Clara Malagón Carlos Olmos Luz González Pilar Guarnizo Gustavo Aroca Guillermo López Antonio Iglesias |
author_facet |
Gloria Garavito Eduardo Egea Luis Fang Clara Malagón Carlos Olmos Luz González Pilar Guarnizo Gustavo Aroca Guillermo López Antonio Iglesias |
author_sort |
Gloria Garavito |
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 |
Instituto Nacional de Salud |
publishDate |
2017 |
url |
https://doi.org/10.7705/biomedica.v37i3.3247 https://doaj.org/article/c2ea825de6c34a5499cbb35526823892 |
geographic |
Arctic |
geographic_facet |
Arctic |
genre |
Arctic |
genre_facet |
Arctic |
op_source |
Biomédica: revista del Instituto Nacional de Salud, Vol 37, Iss 2, Pp 260-266 (2017) |
op_relation |
https://www.revistabiomedica.org/index.php/biomedica/article/view/3247 https://doaj.org/toc/0120-4157 0120-4157 doi:10.7705/biomedica.v37i3.3247 https://doaj.org/article/c2ea825de6c34a5499cbb35526823892 |
op_doi |
https://doi.org/10.7705/biomedica.v37i3.3247 |
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Biomédica |
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37 |
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2 |
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1766341849164808192 |