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Neuropsychological endophenotypes in attention-deficit/hyperactivity disorder: a review of genetic association studies

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Abstract

As a relatively large body of research has been published up to now, it may be informative to explore whether the use of endophenotypes has produced consistent findings in attention-deficit hyperactivity disorder (ADHD). We reviewed the results of genetic studies investigating associations between putative susceptibility genes for ADHD and neuropsychological traits relevant for this disorder. A PubMed database search identified 47 studies. Most of them (n = 36) examined a single candidate gene, while seven studies examined two or three genes and only four studies examined 10 genes or more. The most investigated genes were DRD4, DAT1, COMT, MAOA, and DBH. Regarding DRD4, association of high reaction time variability with the 7-R allele absence appears to be the most consistent result. Speed of processing, set shifting, and cognitive impulsiveness were less frequently investigated, but seem to be altered in the 7-R allele carriers. Regarding DAT1, majority of studies reported negative results indicating that this gene may have a modulating effect rather than direct influence on cognitive functioning. The other genes were investigated in fewer studies, and the reported findings need to be replicated. The principal methodological issues that could represent confounding factors and may explain conflicting results are discussed.

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  1. INSERM, U894, University Paris Descartes, Paris, France

    Oussama Kebir

  2. Department of Psychiatry, McGill University, Montreal, QC, Canada

    Ridha Joober

  3. Douglas Hospital Research Centre, Montreal, QC, Canada

    Ridha Joober

  4. Douglas Mental Health University Institute, McGill University, 6875 boul. Lasalle, Montréal, QC, H4H 1R3, Canada

    Ridha Joober

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Kebir, O., Joober, R. Neuropsychological endophenotypes in attention-deficit/hyperactivity disorder: a review of genetic association studies. Eur Arch Psychiatry Clin Neurosci 261, 583–594 (2011). https://doi.org/10.1007/s00406-011-0207-5

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