冲动行为（不考虑后果的行动）是几种精神疾病的一个特征，其中一些已被发现具有中度遗传性。在寻找这种遗传性的基因特征的一项研究工作中，研究人员将外显子测序工作的重点放在有严重冲动特征的芬兰刑事罪犯的14个血清素和多巴胺相关基因上，其结果显示，冲动与“终止密码子”HTR2B的一个突变有联系。研究人员以前并不知道该基因（它编码5HT2B血清素受体）影响行为。这种血清素受体在冲动行为中所起作用得到了剔除该基因的小鼠表现型的进一步支持。（生物谷Bioon.com）
生物谷推荐原文出处：
Nature doi:10.1038/nature09629
A population-specific HTR2B stop codon predisposes to severe impulsivity
Laura Bevilacqua,Stéphane Doly,Jaakko Kaprio,Qiaoping Yuan,Roope Tikkanen,Tiina Paunio,Zhifeng Zhou,Juho Wedenoja,Luc Maroteaux,Silvina Diaz,Arnaud Belmer,Colin A. Hodgkinson,Liliana Dell’Osso,Jaana Suvisaari,Emil Coccaro,Richard J. Rose,Leena Peltonen,Matti Virkkunen& David Goldman
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.
