Polimorfismos del gen del receptor de muerte celular programada 1 (PDCD1) y diabetes tipo 1 en población Chilena

Background: Programmed cell death 1 (PDCD-1) immune-receptor is a key element in the negative regulation of peripheral tolerance in T cells. Several polymorphisms of this gene have been described and it is linked with susceptibility to autoimmune diseases like Lupus and Multiple Sclerosis. Aim: To a...

Descripción completa

Guardado en:

Detalles Bibliográficos
Autores principales:	FLORES R,SYLVIA, BEEMS,MEGAN, OYARZÚN A,AMAYA, CARRASCO P,ELENA, PÉREZ B,FRANCISCO
Lenguaje:	Spanish / Castilian
Publicado:	Sociedad Médica de Santiago 2010
Materias:	Diabetes mellitus Genetic Human PDCD-1 protein Polymorphisms Type 1
Acceso en línea:	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872010000500003
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!

id	oai:scielo:S0034-98872010000500003
record_format	dspace
spelling	oai:scielo:S0034-988720100005000032010-07-12Polimorfismos del gen del receptor de muerte celular programada 1 (PDCD1) y diabetes tipo 1 en población ChilenaFLORES R,SYLVIABEEMS,MEGANOYARZÚN A,AMAYACARRASCO P,ELENAPÉREZ B,FRANCISCO Diabetes mellitus Genetic Human PDCD-1 protein Polymorphisms Type 1 Background: Programmed cell death 1 (PDCD-1) immune-receptor is a key element in the negative regulation of peripheral tolerance in T cells. Several polymorphisms of this gene have been described and it is linked with susceptibility to autoimmune diseases like Lupus and Multiple Sclerosis. Aim: To analyze four gene polymorphisms of PDCD-1 gene and explore its possible contribution as a susceptibility gene for type 1 diabetes (T1D). Patients and Methods: We analyzed 160 cases with T1D of recent diagnosis aged 9.5 ± 3.3 years and 160 control children aged 10.7 ± 3.1 years. Four genetic variants of PDCD-1 gene were studied (PD1.2; PD1.5; PD1.6 and PD1.9) by polymerase chain reaction and restriction enzymes. Autoantibodies GAD65 and anti-IA-2 were also measured in all studied children. The comparison of allelic and genotypic frequency and consistency with respect to Hardy-Weinberg equilibrium test were analyzed using Chi-square and Fisher exact test. Results: No differences between cases and controls were observed for PDCD1.2; PDCD1.5 and PDCD1.9 polymorphisms. PDCD1.6 polymorphism (carriers of allele A) had a higher frequency in the control group (0.794 versus 0.644, p < 0.017). There was no particular association of these polymorphisms with anti- GAD65 and anti-IA-2 antibodies among patients with T1D. Conclusions: Only PDCD1.6 polymorphism showed differences between T1D cases and controls. Possibly, none of these genetic variants of PDCD1 has a relevant role as a marker for T1D in the Chilean population.info:eu-repo/semantics/openAccessSociedad Médica de SantiagoRevista médica de Chile v.138 n.5 20102010-05-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872010000500003es10.4067/S0034-98872010000500003
institution	Scielo Chile
collection	Scielo Chile
language	Spanish / Castilian
topic	Diabetes mellitus Genetic Human PDCD-1 protein Polymorphisms Type 1
spellingShingle	Diabetes mellitus Genetic Human PDCD-1 protein Polymorphisms Type 1 FLORES R,SYLVIA BEEMS,MEGAN OYARZÚN A,AMAYA CARRASCO P,ELENA PÉREZ B,FRANCISCO Polimorfismos del gen del receptor de muerte celular programada 1 (PDCD1) y diabetes tipo 1 en población Chilena
description	Background: Programmed cell death 1 (PDCD-1) immune-receptor is a key element in the negative regulation of peripheral tolerance in T cells. Several polymorphisms of this gene have been described and it is linked with susceptibility to autoimmune diseases like Lupus and Multiple Sclerosis. Aim: To analyze four gene polymorphisms of PDCD-1 gene and explore its possible contribution as a susceptibility gene for type 1 diabetes (T1D). Patients and Methods: We analyzed 160 cases with T1D of recent diagnosis aged 9.5 ± 3.3 years and 160 control children aged 10.7 ± 3.1 years. Four genetic variants of PDCD-1 gene were studied (PD1.2; PD1.5; PD1.6 and PD1.9) by polymerase chain reaction and restriction enzymes. Autoantibodies GAD65 and anti-IA-2 were also measured in all studied children. The comparison of allelic and genotypic frequency and consistency with respect to Hardy-Weinberg equilibrium test were analyzed using Chi-square and Fisher exact test. Results: No differences between cases and controls were observed for PDCD1.2; PDCD1.5 and PDCD1.9 polymorphisms. PDCD1.6 polymorphism (carriers of allele A) had a higher frequency in the control group (0.794 versus 0.644, p < 0.017). There was no particular association of these polymorphisms with anti- GAD65 and anti-IA-2 antibodies among patients with T1D. Conclusions: Only PDCD1.6 polymorphism showed differences between T1D cases and controls. Possibly, none of these genetic variants of PDCD1 has a relevant role as a marker for T1D in the Chilean population.
author	FLORES R,SYLVIA BEEMS,MEGAN OYARZÚN A,AMAYA CARRASCO P,ELENA PÉREZ B,FRANCISCO
author_facet	FLORES R,SYLVIA BEEMS,MEGAN OYARZÚN A,AMAYA CARRASCO P,ELENA PÉREZ B,FRANCISCO
author_sort	FLORES R,SYLVIA
title	Polimorfismos del gen del receptor de muerte celular programada 1 (PDCD1) y diabetes tipo 1 en población Chilena
title_short	Polimorfismos del gen del receptor de muerte celular programada 1 (PDCD1) y diabetes tipo 1 en población Chilena
title_full	Polimorfismos del gen del receptor de muerte celular programada 1 (PDCD1) y diabetes tipo 1 en población Chilena
title_fullStr	Polimorfismos del gen del receptor de muerte celular programada 1 (PDCD1) y diabetes tipo 1 en población Chilena
title_full_unstemmed	Polimorfismos del gen del receptor de muerte celular programada 1 (PDCD1) y diabetes tipo 1 en población Chilena
title_sort	polimorfismos del gen del receptor de muerte celular programada 1 (pdcd1) y diabetes tipo 1 en población chilena
publisher	Sociedad Médica de Santiago
publishDate	2010
url	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872010000500003
work_keys_str_mv	AT floresrsylvia polimorfismosdelgendelreceptordemuertecelularprogramada1pdcd1ydiabetestipo1enpoblacionchilena AT beemsmegan polimorfismosdelgendelreceptordemuertecelularprogramada1pdcd1ydiabetestipo1enpoblacionchilena AT oyarzunaamaya polimorfismosdelgendelreceptordemuertecelularprogramada1pdcd1ydiabetestipo1enpoblacionchilena AT carrascopelena polimorfismosdelgendelreceptordemuertecelularprogramada1pdcd1ydiabetestipo1enpoblacionchilena AT perezbfrancisco polimorfismosdelgendelreceptordemuertecelularprogramada1pdcd1ydiabetestipo1enpoblacionchilena
_version_	1718436503587127296

Polimorfismos del gen del receptor de muerte celular programada 1 (PDCD1) y diabetes tipo 1 en población Chilena

Ejemplares similares