Association of PDCD1 polymorphisms with childhood-onset systemic lupus erythematosus

Velázquez Cruz R.,

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Título :	Association of PDCD1 polymorphisms with childhood-onset systemic lupus erythematosus
Creador:	Velázquez Cruz R.,
Nivel de acceso:	Open access
Palabras clave :	Edad de Inicio Antígenos CD - genética Proteínas Reguladoras de la Apoptosis - genética Estudios de Casos y Controles Niño femenino Predisposición Genética a la Enfermedad Humanos Lupus Eritematoso Sistémico - epidemiología Lupus Eritematoso Sistémico - genética Nefritis Lúpica - genética Masculino Polimorfismo Genético Receptor de Muerte Celular Programada 1 Age of Onset Antigens, CD - genetics Apoptosis Regulatory Proteins - genetics Case-Control Studies Child Female Genetic Predisposition to Disease Humans Lupus Erythematosus, Systemic - epidemiology Lupus Erythematosus, Systemic - genetics Lupus Nephritis - genetics Male Polymorphism, Genetic Programmed Cell Death 1 Receptor systemic lupus erythematosus (SLE) pediatric rheumatology SNPs
Descripción :	A regulatory single nucleotide polymorphism (SNP) PD1.3G/A located on programmed cell death 1 (PDCD1) gene, was shown to be involved in susceptibility to systemic lupus erythematosus (SLE) in Swedish, European American, and Mexican cases. However, association to childhood-onset SLE has not been analyzed. The aim of this study was to investigate the association of PDCD1 polymorphisms and haplotypes with susceptibility to childhood-onset SLE in Mexican population. Three PDCD1 SNPs, PD1.3G/A, PD1.5C/T, PD1.6G/A, were analyzed in 250 childhood-onset SLE Mexican patients and 355 healthy controls in a case-control association study. Polymorphisms were genotyped by TaqMan technology. Stratification analysis was performed on the SLE cohort to investigate the SNP association with renal disorder. In addition, haplotypes were constructed with these three SNPs. The PD1.3A allele was significantly associated to childhood-onset SLE (P=0.0019, odds ratio (OR) 2.73, 95% confidence interval (95% CI) 1.35-5.56). The other PDCD1 SNPs did not show association. A total of 155 patients (62%) had nephritis, and no association was observed with PDCD1 SNPs. The ACG haplotype (PD1.3A, PD1.5C, PD1.6G) included almost all PD1.3A alleles, and it was more frequent in SLE patients (5.5%) than in controls (2.1%) (P=0.003; OR 2.73, 95% CI 1.37-5.46). The haplotype structure in Mexican controls was significantly different from those reported in Spanish and Swedish. Our results support association of the PD1.3A SNP to susceptibility of childhood-onset SLE in Mexican population and does not show association to lupus nephritis in this age group.
Colaborador(es) u otros Autores:	Orozco L. Espinosa-Rosales F. Carreño-Manjarrez R. Solís-Vallejo E. López-Lara N.D. Ruiz-López I.K. Rodríguez-Lozano A.L. Estrada-Gil J.K. Jiménez-Sánchez G. Baca V.
Fecha de publicación :	2007
Tipo de publicación:	Artículo
Formato:	pdf
Identificador del Recurso :	10.1038/sj.ejhg.5201767
Fuente:	European Journal of Human Genetics 15(3):336 - 341
URI :	http://repositorio.pediatria.gob.mx:8180/handle/20.500.12103/2059
Idioma:	eng
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