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图片来源：medicalxpress.com
2015年11月19日 讯 /生物谷BIOON/ –近日，一项刊登在国际杂志Translational Psychiatry上的研究报告中，来自赫尔辛基大学的科学家通过研究发现了一种遗传突变，该突变可是的携带者喝醉酒后出现特别冲动和鲁莽的行为，研究者指出，在芬兰超过10万人都携带这种突变。
许多芬兰人都知道有些人喝醉后会行为会变得过度奇怪且不稳定，文章中研究者推测这或许是某些生物因素所导致的；研究者Roope Tikkanen博士表示，如今我们发现血清素2B受体基因的点图片或许会使得携带者更加易于出现冲动行为，尤其是在酒后表现尤为明显，这项研究是对2010年发表在Nature杂志上的研究结果的补充，Nature杂志上研究者Bevilacqua阐述了在芬兰人机体中发现了血清素2B受体的突变。
本文研究结果表明，携带该突变的个体在自然状态下易于变得冲动，而且这些个体非常有可能挣扎于自我控制和情绪障碍中；目前研究者对血清素2B受体在人类机体中的功能知之甚少，但其被认为和个体情绪冲动相关，尽管这只是在很少一部分人中出现的精神健康问题，本文中研究者在2.2%的人群中发现了该基因的突变，一个基因在复杂现象中的影响往往是次要的，但其却有可能帮助鉴别出该基因对人群的影响，比如基因突变对芬兰人的影响等。
如果这些研究结果在遭受冲动控制困难的单一个体的大量临床样本中表现较为明显，那么研究者或许就可以采取一定的保护措施，而最为重要的措施明显就是控制个体的酒精消耗，其它的措施还包括尝试通过认知行为精神疗法和药物疗法来对个体的行为进行控制。除了芬兰人群体健康的假定影响外，本文研究发现还揭示了血清素2B受体在人类机体中的重要角色，研究者还需要进行更多研究来揭示该基因表达的影响，即基因表达的蛋白产物可以在多种方式中受到影响。
最后研究者表示，本文研究阐明了血清素2B受体在个体健康中的影响，而增加对血清素2B受体功能的理解对于后期开发新型药理学方法来治疗相关疾病的患者提供了一定的帮助和思路。（基因宝jiyinbao.com）
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Impulsive alcohol-related risk-behavior and emotional dysregulation among individuals with a serotonin 2B receptor stop codon
R Tikkanen1,2, J Tiihonen3,4,5, M R Rautiainen5, T Paunio1,5,6, L Bevilacqua7, R Panarsky8, D Goldman8 and M Virkkunen1,6
A relatively common stop codon (Q20*) was identified in the serotonin 2B receptor gene (HTR2B) in a Finnish founder population in 2010 and it was associated with impulsivity. Here we examine the phenotype of HTR2B Q20* carriers in a setting comprising 14 heterozygous HTR2B Q20* carriers and 156 healthy controls without the HTR2B Q20*. The tridimensional personality questionnaire, Brown–Goodwin lifetime aggression scale, the Michigan alcoholism screening test and lifetime drinking history were used to measure personality traits, impulsive and aggressive behavior, both while sober and under the influence of alcohol, and alcohol consumption. Regression analyses showed that among the HTR2B Q20* carriers, temperamental traits resembled a passive-dependent personality profile, and the presence of the HTR2B Q20* predicted impulsive and aggressive behaviors particularly under the influence of alcohol. Results present examples of how one gene may contribute to personality structure and behaviors in a founder population and how personality may translate into behavior.
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.