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Título : Association of TLR7 copy number variation with susceptibility to childhood-onset systemic lupus erythematosus in Mexican population
Creador: García Ortiz H.
Nivel de acceso: Open access
Palabras clave : Adolescente
Estudios de Casos y Controles
Niño
Femenino
Dosificación de Gen - genética
Expresión Génica
Predisposición Genética a la Enfermedad
Humanos
Lupus Eritematoso Sistémico - genética
Lupus Eritematoso Sistémico - metabolismo
Masculino
ARN Mensajero - genética
Factores Sexuales
Receptor Toll-Like 7 - biosíntesis
Receptor Toll-Like 7 - genética
Adolescent
Case-Control Studies
Child
Female
Gene Dosage - genetics
Gene Expression
Genetic Predisposition to Disease
Humans
Lupus Erythematosus, Systemic - genetics
Lupus Erythematosus, Systemic - metabolism
Male
RNA, Messenger - genetics
Sex Factors
Toll-Like Receptor 7 - biosynthesis
Toll-Like Receptor 7 - genetics
Lupus Eritematoso Diseminado
RTL7
Genética
Lupus Erythematosus, Systemic
Toll-Like Receptor 7
Genetics
Descripción : Objective: Variations in gene copy number (CNV) have been recognised as a hereditable source of susceptibility in human complex diseases. Recent studies have shown that Tlr7 gene dosage has a significant contribution in the autoimmune-enhancing effect in mouse models of systemic lupus erythematosus (SLE). A study was therefore performed to investigate whether CNVs in TLR7 contribute to the genetic component of childhood-onset SLE. Methods: A case-control association study was performed in 328 Mexican children with SLE and 403 healthy controls. Determination of CNVs of TLR7 was achieved by real-time PCR using the ΔΔCt method. Expression levels of TLR7 and interferon α (IFNα) were determined in 23 patients. In addition, a stratification analysis was performed to investigate the association of TLR7 gene copy number (CN) with lupus nephritis. Results: A significant increase was found in the relative TLR7 gene CN in females patients with SLE compared with female controls (p<0.0001). However, logistic regression analysis by gender showed a higher OR (OR 6.61, p=0.005) in male patients with >1 copy of TLR7 than in female patients with >2 copies (OR 3.07, p<0.0001). This association was not observed with lupus nephritis. TLR7 mRNA levels correlated significantly with TLR7 CN and with IFNα mRNA levels. Conclusion: These results show that an increase in TLR7 CN is a risk factor for childhood-onset SLE and provide new evidence for a role for X-linked gene dosage in SLE susceptibility. There is also evidence to suggest that TLR7 may be involved in the pathogenesis of SLE through the induction of IFNα.
Colaborador(es) u otros Autores: Velázquez-Cruz R.
Espinosa-Rosales F.
Jiménez-Morales S.
Baca V.
Orozco L.
Fecha de publicación : 2010
Tipo de publicación: Artículo
Formato: pdf
Identificador del Recurso : 10.1136/ard.2009.124313
Fuente: Annals of the Rheumatic Diseases 69(10):1861 - 1865
URI : http://repositorio.pediatria.gob.mx:8180/handle/20.500.12103/2081
Idioma: eng
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