Replication of an association of a promoter polymorphism of the dopamine transporter gene and Attention Deficit Hyperactivity Disorder

Doyle, Christopher, Brookes, Keeley, Simpson, Keeley, Park, Joanne, Scott, Sarah, Coghill, David R., Hawi, Ziarah, Kirley, Aiveen, Gill, Michael and Kent, Lindsey (2009) Replication of an association of a promoter polymorphism of the dopamine transporter gene and Attention Deficit Hyperactivity Disorder. Neuroscience Letters, 462 2: 179-181. doi:10.1016/j.neulet.2009.06.084


Author Doyle, Christopher
Brookes, Keeley
Simpson, Keeley
Park, Joanne
Scott, Sarah
Coghill, David R.
Hawi, Ziarah
Kirley, Aiveen
Gill, Michael
Kent, Lindsey
Title Replication of an association of a promoter polymorphism of the dopamine transporter gene and Attention Deficit Hyperactivity Disorder
Journal name Neuroscience Letters   Check publisher's open access policy
ISSN 0304-3940
1872-7972
Publication date 2009-09
Sub-type Article (original research)
DOI 10.1016/j.neulet.2009.06.084
Volume 462
Issue 2
Start page 179
End page 181
Total pages 3
Place of publication E. Park, Shannon, Co. Clare, Ireland
Publisher Elsevier Ireland
Language eng
Formatted abstract
Genetic associations for Attention Deficit Hyperactivity Disorder (ADHD), a common highly heritable childhood behavioural disorder, require replication in order to establish whether they are true positive findings. The current study aims to replicate recent association findings from the International Multi-centre ADHD Genetics (IMAGE) project in one of the most studied genes related to ADHD, the dopamine transporter (DAT1) gene. In a family-based sample of 450 ADHD probands, three Single Nucleotide Polymorphism (SNP) markers have been genotyped using TaqMan assays. Transmission Disequilibrium Test analysis demonstrates that one of three SNP markers (rs11564750) in the 5′ promoter region of the gene is significantly associated with ADHD (P = 0.02). This provides further evidence that in addition to the well-known and investigated 3′UTR polymorphism associated with ADHD, there is potentially a further association signal emanating from the 5′ promoter region of the gene. Further replication and functional studies are now required to fully understand the consequence of polymorphisms present at both the 5′ and 3′ ends of the DAT1 gene and their role in ADHD pathophysiology.
Keyword ADHD
DAT1
Association
Replication
Polymorphism
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Non-UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Queensland Brain Institute Publications
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Created: Thu, 20 Oct 2011, 18:14:19 EST by Ziarih Hawi on behalf of Queensland Brain Institute