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Title: | A Highly Polymorphic Copy Number Variant in the NSF Gene is Associated with Cocaine Dependence |
Author: | Cabana Domínguez, Judit Roncero, Carlos Grau-López, Lara Rodríguez-Cintas, Laia Barral, Carmen Abad, Alfonso C. Erikson, Galina Wineinger, Nathan E Torrico Avilés, Bàrbara Arenas Solà, Concepción Casas, Miquel Ribasés Haro, Marta Cormand Rifà, Bru Fernàndez Castillo, Noèlia |
Keywords: | Expressió gènica Drogoaddicció Polimorfisme genètic Gene expression Drug addiction Genetic polymorphisms |
Issue Date: | 8-Aug-2016 |
Publisher: | Nature Publishing Group |
Abstract: | Cocaine dependence is a complex psychiatric disorder involving both genetic and environmental factors. Several neurotransmitter systems mediate cocaine's effects, dependence and relapse, being the components of the neurotransmitter release machinery good candidates for the disorder. Previously, we identified a risk haplotype for cocaine dependence in the NSF gene, encoding the protein N-Ethylmaleimide-Sensitive Factor essential for synaptic vesicle turnover. Here we examined the possible contribution to cocaine dependence of a large copy number variant (CNV) that encompasses part of the NSF gene. We performed a case-control association study in a discovery sample (359 cases and 356 controls) and identified an association between cocaine dependence and the CNV (P=0.013), that was confirmed in the replication sample (508 cases and 569 controls, P=7.1e-03) and in a pooled analysis (P=1.8e-04), with an over-representation of low number of copies in cases. Subsequently, we studied the functional impact of the CNV on gene expression and found thatthe levels of two NSF transcripts were significantly increased in peripheral blood mononuclear cells (PBMC) along with the number of copies of the CNV. These results, together with a previous study from our group, support the role of NSF in the susceptibility to cocaine dependence |
Note: | Reproducció del document publicat a: https://doi.org/10.1038/srep31033 |
It is part of: | Scientific Reports, 2016, vol. 6, num. 31033, p. 1-10 |
URI: | https://hdl.handle.net/2445/114793 |
Related resource: | https://doi.org/10.1038/srep31033 |
ISSN: | 2045-2322 |
Appears in Collections: | Articles publicats en revistes (Genètica, Microbiologia i Estadística) Publicacions de projectes de recerca finançats per la UE |
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