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Association of ADHD with genetic variants in the 5'-region of the dopamine transporter gene: evidence for allelic heterogeneity

Brookes, K.J., Xu, X., Anney, R., Franke, B., Zhou, K., Chen, Wai, Banaschewski, T., Buitelaar, J., Ebstein, R., Eisenberg, J., Gill, M., Miranda, A., Oades, R.D., Roeyers, H., Rothenberger, A., Sergeant, J., Sonuga-Barke, E., Steinhausen, H.-C., Taylor, E., Faraone, S.V. and Asherson, P. (2008) Association of ADHD with genetic variants in the 5'-region of the dopamine transporter gene: evidence for allelic heterogeneity American Journal of Medical Genetics Part B: Neuropsychiatric Genetics (doi:10.1002/ajmg.b.30782).

Record type: Article


Multiple studies have reported an association between attention deficit hyperactivity disorder (ADHD) and the 10-repeat allele of a variable number tandem repeat (VNTR) polymorphism in the 3-untranslated region (3UTR) of the dopamine transporter gene (DAT1). Yet, recent meta-analyses of available data find little or no evidence for this association; although there is strong evidence for heterogeneity between datasets. This pattern of findings could arise for several reasons including the presence of relatively rare risk alleles on common haplotype backgrounds or the functional interaction of two or more loci within the gene. We previously described the importance of a specific haplotype at the 3 end of DAT1, as well as the identification of associated single nucleotide polymorphisms (SNPs) within or close to 5 regulatory sequences. In this study we replicate the association of SNPs at the 5 end of the gene and identify a specific risk haplotype spanning the 5 and 3 markers. These findings indicate the presence of at least two loci associated with ADHD within the DAT1 gene and suggest that either additive or interaction effects of these two loci on the risk for ADHD. Overall these data provide further evidence that genetic variants of the dopamine transporter gene confer an increased risk for ADHD.

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Published date: 30 July 2008
Keywords: attention deficit hyperactivity disorder (adhd), dopamine transporter gene (dat1), association study


Local EPrints ID: 63808
ISSN: 1552-4841
PURE UUID: 3fa51daf-1dd0-4298-8137-6a32521f9899

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Date deposited: 05 Nov 2008
Last modified: 17 Jul 2017 14:15

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Author: K.J. Brookes
Author: X. Xu
Author: R. Anney
Author: B. Franke
Author: K. Zhou
Author: Wai Chen
Author: T. Banaschewski
Author: J. Buitelaar
Author: R. Ebstein
Author: J. Eisenberg
Author: M. Gill
Author: A. Miranda
Author: R.D. Oades
Author: H. Roeyers
Author: A. Rothenberger
Author: J. Sergeant
Author: E. Sonuga-Barke
Author: H.-C. Steinhausen
Author: E. Taylor
Author: S.V. Faraone
Author: P. Asherson

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