Journal
NATURE
Volume 468, Issue 7327, Pages 1061-U460Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/nature09629
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Funding
- National Institute on Alcohol Abuse and Alcoholism, NIH
- Academy of Finland Centre of Excellence in Complex Disease Genetics
- National Institute on Alcohol Abuse and Alcoholism [AA-12502, AA-09203]
- Academy of Finland [100499, 205585, 118555]
- Centre National de la Recherche Scientifique
- Institut National de la Sante et de la Recherche Medicale
- Universite Pierre et Marie Curie
- Fondation de France
- Fondation pour la Recherche Medicale
- French Ministry of Research (Agence Nationale pour la Recherche)
- European Union
- IBRO
- Region Ile de France DIM STEM
- Academy of Finland (AKA) [205585, 118555] Funding Source: Academy of Finland (AKA)
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Impulsivity, describing action without foresight, is an important feature of several psychiatric diseases, suicidality and violent behaviour. The complex origins of impulsivity hinder identification of the genes influencing it and the diseases with which it is associated. Here we perform exon-focused sequencing of impulsive individuals in a founder population, targeting fourteen genes belonging to the serotonin and dopamine domain. A stop codon in HTR2B was identified that is common (minor allele frequency >1%) but exclusive to Finnish people. Expression of the gene in the human brain was assessed, as well as the molecular functionality of the stop codon, which was associated with psychiatric diseases marked by impulsivity in both population and family-based analyses. Knockout of Htr2b increased impulsive behaviours in mice, indicative of predictive validity. Our study shows the potential for identifying and tracing effects of rare alleles in complex behavioural phenotypes using founder populations, and indicates a role for HTR2B in impulsivity.
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