Clusters of Autoimmune Diseases in Children and the Role of PTPN22 C1858T Gene Polymorphism in Pediatric Polyautoimmunity

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dc.article.number38547
dc.catalogadoraba
dc.contributor.authorBorzutzky Schachter, Arturo
dc.contributor.authorSeiltgens, Cristián
dc.contributor.authorIruretagoyena B., Mirentxu
dc.contributor.authorCristi, Francisca
dc.contributor.authorPonce, María Jesús
dc.contributor.authorMelendez, Patricia
dc.contributor.authorMartínez Aguayo, Alejandro
dc.contributor.authorHodgson Bunster, María Isabel
dc.contributor.authorTalesnik Guendelman, Eduardo
dc.contributor.authorRiera Cassorla, Francisca Paz
dc.contributor.authorMéndez, Cecilia
dc.contributor.authorHarris D., Paul R.
dc.contributor.authorGarcía Bruce, Hernán
dc.contributor.authorGana Ansaldo, Juan Cristóbal
dc.contributor.authorGodoy, Claudia
dc.contributor.authorCattani Ortega, Andreína
dc.date.accessioned2024-01-17T19:36:04Z
dc.date.available2024-01-17T19:36:04Z
dc.date.issued2014
dc.description.abstractBackground/Purpose:Autoimmune diseases (AIDs) have familial aggregation and frequently share a common genetic background, but few studies have evaluated autoimmune clusters in children with AIDs and their families. Children with more than one AID (pediatric polyautoimmunity) may have a stronger genetic component than children with a single AID. The objectives of this study were to identify clusters of AIDs in children and their first-degree relatives and to evaluate the association of PTPN22 C1858T gene polymorphism with pediatric polyautoimmunity.Methods:A cross-sectional study was performed in subjects with an AID of pediatric onset (<18 years)recruited at Pediatric Rheumatology, Endocrinology and Gastroenterology Clinics at the Health Network of the Pontificia Universidad Católica de Chile School of Medicine. Clusters of AIDs were identified by K-means cluster analysis. The PTPN22 C1858T gene polymorphism was determined by RT-PCR in subjects with pediatric polyautoimmunity and in subjects with three common AIDs: juvenile idiopathic arthritis (JIA), autoimmune thyroid disease (AITD), and type I diabetes (T1D).Results:191 subjects with pediatric AIDs were included, of which 45 (24%) had polyautoimmunity. Mean age was 12.1 years (range 1–19) and 68% were female. Most frequent AIDs were JIA (36%), AITD (25%), T1D (19%), uveitis (8%), celiac disease (6%), and vitiligo (6%). 59% of subjects with pediatric autoimmunity had first-degree relatives with an AID. Five clusters of AID were identified in families of children with autoimmunity (Table 1). Among the 45 subjects with pediatric polyautoimmunity, four clusters of AIDs were identified (Table 2). Genomic DNA from 128 subjects was evaluated for PTPN22 C1858T gene polymorphism revealing common homozygosity (C/C) in 85.2%, heterozygosity (C/T) in 13.3%, and rare homozygosity (T/T) in 1.6 %, in equilibrium with Hardy Weinberg equation (P = 0.4). 26% of polyautoimmune subjects had the T allele in contrast with 11% of monoautoimmune subjects (P = 0.04). No significant difference was found in the age of onset of autoimmunity between mono and polyautoimmune subjects (P = 0.44) or between subjects with C/C genotype vs. C/T and T/T genotypes (P = 0.81).
dc.fechaingreso.objetodigital2024-01-19
dc.format.extent2 páginas
dc.fuente.origenORCID-ene24
dc.identifier.doi10.1002/art.38547
dc.identifier.eissn2326-5205
dc.identifier.issn2326-5191
dc.identifier.urihttps://doi.org/10.1002/art.38547
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/80561
dc.identifier.wosidWOS:000349950900128
dc.information.autorucEscuela de Medicina; Borzutzky Schachter, Arturo; 0000-0002-7904-262X; 5897
dc.information.autorucEscuela de Medicina; Iruretagoyena B., Mirentxu; S/I; 144496
dc.information.autorucEscuela de Medicina; Martínez Aguayo, Alejandro; 0000-0002-1677-3513; 1003862
dc.information.autorucEscuela de Medicina; Hodgson Bunster, María Isabel; S/I; 99461
dc.information.autorucEscuela de Medicina; Talesnik Guendelman, Eduardo; S/I; 99067
dc.information.autorucEscuela de Medicina; Riera Cassorla, Francisca Paz; 0009-0004-4238-5663; 12907
dc.information.autorucEscuela de Medicina; Harris D., Paul R.; 0000-0001-6226-0957; 80706
dc.information.autorucEscuela de Medicina; García Bruce, Hernán; 0000-0002-6266-4828; 1006495
dc.information.autorucEscuela de Medicina; Gana Ansaldo, Juan Cristóbal; 0000-0002-0400-2164; 8726
dc.information.autorucEscuela de Medicina; Cattani Ortega, Andreína; S/I; 99178
dc.issue.numeroS3
dc.language.isoen
dc.nota.accesoContenido parcial
dc.pagina.finalS165
dc.pagina.inicioS164
dc.relation.ispartofPediatric Rheumatology Symposium (2014 : Orlando, Florida)
dc.revistaARTHRITIS & RHEUMATOLOGY
dc.rightsacceso restringido
dc.subject.ddc610
dc.subject.deweyMedicina y saludes_ES
dc.titleClusters of Autoimmune Diseases in Children and the Role of PTPN22 C1858T Gene Polymorphism in Pediatric Polyautoimmunity
dc.typecomunicación de congreso
dc.volumen66
sipa.codpersvinculados5897
sipa.codpersvinculados144496
sipa.codpersvinculados1003862
sipa.codpersvinculados99461
sipa.codpersvinculados99067
sipa.codpersvinculados12907
sipa.codpersvinculados80706
sipa.codpersvinculados1006495
sipa.codpersvinculados8726
sipa.codpersvinculados99178
sipa.indexWoS
sipa.trazabilidadORCID;2024-01-08
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