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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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