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http://repositorio.pediatria.gob.mx:8180/handle/20.500.12103/2081| 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: | |
| 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 |
| Aparece en las colecciones: | Artículos |
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