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Página principal > Artículos > Artículos publicados > Gene-wide Association Study Reveals RNF122 Ubiquitin Ligase as a Novel Susceptibility Gene for Attention Deficit Hyperactivity Disorder |
Fecha: | 2017 |
Resumen: | Attention Deficit Hyperactivity Disorder (ADHD) is a common childhood-onset neurodevelopmental condition characterized by pervasive impairment of attention, hyperactivity, and/or impulsivity that can persist into adulthood. The aetiology of ADHD is complex and multifactorial and, despite the wealth of evidence for its high heritability, genetic studies have provided modest evidence for the involvement of specific genes and have failed to identify consistent and replicable results. Due to the lack of robust findings, we performed gene-wide and pathway enrichment analyses using pre-existing GWAS data from 607 persistent ADHD subjects and 584 controls, produced by our group. Subsequently, expression profiles of genes surpassing a follow-up threshold of P-value < 1e-03 in the gene-wide analyses were tested in peripheral blood mononucleated cells (PBMCs) of 45 medication-naive adults with ADHD and 39 healthy unrelated controls. We found preliminary evidence for genetic association between RNF122 and ADHD and for its overexpression in adults with ADHD. RNF122 encodes for an E3 ubiquitin ligase involved in the proteasome-mediated processing, trafficking, and degradation of proteins that acts as an essential mediator of the substrate specificity of ubiquitin ligation. Thus, our findings support previous data that place the ubiquitin-proteasome system as a promising candidate for its involvement in the aetiology of ADHD. |
Ayudas: | Ministerio de Economía, Industria y Competitividad CD15/00199 Ministerio de Economía, Industria y Competitividad MV16/00039 Ministerio de Ciencia e Innovación CP09/00119 Ministerio de Economía, Industria y Competitividad CPII15/00023 Instituto de Salud Carlos III PI12/01139 Instituto de Salud Carlos III PI14/01700 Instituto de Salud Carlos III PI15/01789 Instituto de Salud Carlos III PI16/01505 Agència de Gestió d'Ajuts Universitaris i de Recerca 2014SGR1357 Agència de Gestió d'Ajuts Universitaris i de Recerca 2014SGR0932 Ministerio de Economía, Industria y Competitividad SAF2012-33484 Ministerio de Economía, Industria y Competitividad SAF2015-68341-R Agència de Gestió d'Ajuts Universitaris i de Recerca 2016FI_B 00899 |
Derechos: | Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original. |
Lengua: | Anglès |
Documento: | Article ; recerca ; Versió publicada |
Publicado en: | Scientific reports, Vol. 7 (july 2017) , ISSN 2045-2322 |
13 p, 1.9 MB |