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Identification and functional characterisation of a novel dopamine beta hydroxylase gene variant associated with ADHD
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dc.contributor.author | Tong, Janette | |
dc.contributor.author | McKinley, Leigh-Anne | |
dc.contributor.author | Cummins, Tarrant | |
dc.contributor.author | Johnson, Beth | |
dc.contributor.author | Matthews, Natasha | |
dc.contributor.author | Vance, Alasdair | |
dc.contributor.author | Heussler, Helen | |
dc.contributor.author | Gill, Michael | |
dc.contributor.author | Kent, Lindsey | |
dc.contributor.author | Belgrove, Mark | |
dc.contributor.author | Hawi, Ziarih | |
dc.date.accessioned | 2015-05-15T14:31:02Z | |
dc.date.available | 2015-05-15T14:31:02Z | |
dc.date.issued | 2015 | |
dc.identifier | 175205072 | |
dc.identifier | 02b86827-ff4a-4c7d-b0d6-4c9e67fd088b | |
dc.identifier.citation | Tong , J , McKinley , L-A , Cummins , T , Johnson , B , Matthews , N , Vance , A , Heussler , H , Gill , M , Kent , L , Belgrove , M & Hawi , Z 2015 , ' Identification and functional characterisation of a novel dopamine beta hydroxylase gene variant associated with ADHD ' , World Journal of Biological Psychiatry . https://doi.org/10.3109/15622975.2015.103677 | en |
dc.identifier.issn | 1562-2975 | |
dc.identifier.other | ORCID: /0000-0002-5315-3399/work/60195378 | |
dc.identifier.uri | https://hdl.handle.net/10023/6647 | |
dc.description.abstract | Dysregulation in neurotransmitter signalling has been implicated in the aetiology of ADHD. Polymorphisms of the gene encoding dopamine beta hydroxylase (DBH), a key player in catecholamine signalling, have been shown to be associated with increased risk for ADHD. Previous genetic studies of ADHD have reported associations with a range of DBH gene variants (rs2519152, rs1611115, rs1108580 and rs6271) however small sample sizes have led to inconsistency. Here we conducted TDT analysis in a large ADHD sample of 794 nuclear families to re-examine the relationship between DBH and ADHD. Although we did not replicate associations of rs2519152 and rs1611115 with ADHD, we identified a significant association with rs129882 (pcorrected = 0.02). Further, gene reporter assays of DBH rs129882 showed a significant impact of the ADHD-associated C allele on luciferase expression in a human neuroblastoma cell line, SH-SY5Y. These data demonstrate for the first time that a DBH gene variant which confers risk to ADHD is also associated with reduced in vitro gene expression. | |
dc.format.extent | 9 | |
dc.format.extent | 455721 | |
dc.language.iso | eng | |
dc.relation.ispartof | World Journal of Biological Psychiatry | en |
dc.subject | Attention Deficit Disorder with Hyperactivity | en |
dc.subject | Genetics | en |
dc.subject | Gene expression | en |
dc.subject | DBH | en |
dc.subject | Polymorphism | en |
dc.subject | R Medicine | en |
dc.subject | NDAS | en |
dc.subject.lcc | R | en |
dc.title | Identification and functional characterisation of a novel dopamine beta hydroxylase gene variant associated with ADHD | en |
dc.type | Journal article | en |
dc.contributor.institution | University of St Andrews. School of Medicine | en |
dc.contributor.institution | University of St Andrews. Institute of Behavioural and Neural Sciences | en |
dc.identifier.doi | 10.3109/15622975.2015.103677 | |
dc.description.status | Peer reviewed | en |
dc.date.embargoedUntil | 2015-05-15 | |
dc.identifier.url | http://informahealthcare.com/doi/abs/10.3109/15622975.2015.1036771 | en |
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