Skip to content

Research at St Andrews

Identification and functional characterisation of a novel dopamine beta hydroxylase gene variant associated with ADHD

Research output: Contribution to journalArticle


Janette Tong, Leigh-Anne McKinley, Tarrant Cummins, Beth Johnson, Natasha Matthews, Alasdair Vance, Helen Heussler, Michael Gill, Lindsey Kent, Mark Belgrove, Ziarih Hawi

School/Research organisations


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.



Original languageEnglish
Number of pages9
JournalWorld Journal of Biological Psychiatry
Early online date15 May 2015
Publication statusPublished - 2015

    Research areas

  • Attention Deficit Disorder with Hyperactivity, Genetics, Gene expression, DBH, Polymorphism

Discover related content
Find related publications, people, projects and more using interactive charts.

View graph of relations

Related by author

  1. A case-control genome-wide association study of ADHD discovers a novel association with the tenascin R (TNR) gene

    Hawi, Z., Yates, H., Pinar, A., Johnson, B., Tong, J., Pugsley, K., Dark, C., Pauper, M., Klein, M., Heussler, H. S., Vance, A., Hiscock, H., Fornito, A., Tiego, J., Finlay, A., Franke, B., Gill, M., Kent, L. S. & Bellgrove, M. A., 18 Dec 2018, In : Translational Psychiatry. 8, 8 p., 284.

    Research output: Contribution to journalArticle

  2. Rare DNA variants in the brain derived neurotrophic factor gene increase risk for attention deficit hyperactivity disorder: a next generation sequencing study

    Hawi, Z., Cummins, T. D. R., Tong, J., Arcos-Burgos, M., Zhao, Q., Matthews, N., Newman, D. P., Johnson, B., Vance, A., Heussler, H. S., Levy, F., Easteal, S., Wray, N., Kenny, E., Morris, D., Kent, L., Gill, M. & Bellgrove, M., Apr 2017, In : Molecular Psychiatry. Advance online, p. 580-584 5 p.

    Research output: Contribution to journalArticle

  3. GLRB allelic variation associated with agoraphobic cognitions, increased startle response and fear network activation: a potential neurogenetic pathway to panic disorder

    Deckert, J., Weber, H., Villmann, C., Lonsdorf, T. B., Richter, J., Andreatta, M., Arias-Vasquez, A., Hommers, L., Kent, L., Schartner, C., Cichon, S., Wolf, C., Schaefer, N., von Collenberg, C. R., Wachter, B., Blum, R., Schümann, D., Scharfenort, R., Schumacher, J., Forstner, A. J. & 27 othersBaumann, C., Schiele, M. A., Notzon, S., Zwanzger, P., Janzing, J. G. E., Galesloot, T., Kiemeney, L. A., Gajewska, A., Glotzbach-Schoon, E., Mühlberger, A., Alpers, G., Fydrich, T., Fehm, L., Gerlach, A. L., Kircher, T., Lang, T., Ströhle, A., Arolt, V., Wittchen, H-U., Kalisch, R., Büchel, C., Hamm, A., Nöthen, M. M., Romanos, M., Domschke, K., Pauli, P. & Reif, A., 2017, In : Molecular Psychiatry. 22, p. 1431-1439 9 p.

    Research output: Contribution to journalArticle

  4. Pathway analysis in attention deficit hyperactivity disorder: an ensemble approach

    Mooney, M. A., McWeeney, S. K., Faraone, S. V., Hinney, A., Hebebrand, J., IMAGE2 Consortium, German ADHD GWAS Group, Nigg, J. T. & Wilmot, B., Sep 2016, In : American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics . 171, 6, p. 815-826

    Research output: Contribution to journalArticle

  5. Psychiatric gene discoveries shape evidence on ADHD's biology

    Thapar, A., Martin, J., Mick, E., Arias Vásquez, A., Langley, K., Scherer, S. W., Schachar, R., Crosbie, J., Williams, N., Franke, B., Elia, J., Glessner, J., Hakonarson, H., Owen, M. J., Faraone, S. V., O'Donovan, M. C., Holmans, P. & IMAGE 2 Consortium (incl Kent L), 2016, In : Molecular Psychiatry. 21, p. 1202-1207 6 p.

    Research output: Contribution to journalArticle

Related by journal

  1. Identification and functional characterisation of a novel dopamine beta hydroxylase gene variant associated with attention deficit hyperactivity disorder

    Tong, J., Mckinley, L-A., Cummins, T. D. R., Johnson, B., Matthews, N., Vance, A., Heussler, H., Gill, M., Kent, L., Bellgrove, M. A. & Hawi, Z., 17 Nov 2015, In : World Journal of Biological Psychiatry. 16, 8, p. 610-618 9 p.

    Research output: Contribution to journalArticle

ID: 175205072