Hariri Ahmad R, Mattay Venkata S, Tessitore Alessandro, Kolachana Bhaskar, Fera Francesco, Goldman David, Egan Michael F, Weinberger Daniel R
Clinical Brain Disorders Branch, Intramural Research Program, National Institute of Mental Health, National Institutes of Health, Bethesda, MD 20892, USA.
Science. 2002 Jul 19;297(5580):400-3. doi: 10.1126/science.1071829.
A functional polymorphism in the promoter region of the human serotonin transporter gene (SLC6A4) has been associated with several dimensions of neuroticism and psychopathology, especially anxiety traits, but the predictive value of this genotype against these complex behaviors has been inconsistent. Serotonin [5- hydroxytryptamine, (5-HT)] function influences normal fear as well as pathological anxiety, behaviors critically dependent on the amygdala in animal models and in clinical studies. We now report that individuals with one or two copies of the short allele of the serotonin transporter (5-HTT) promoter polymorphism, which has been associated with reduced 5-HTT expression and function and increased fear and anxiety-related behaviors, exhibit greater amygdala neuronal activity, as assessed by BOLD functional magnetic resonance imaging, in response to fearful stimuli compared with individuals homozygous for the long allele. These results demonstrate genetically driven variation in the response of brain regions underlying human emotional behavior and suggest that differential excitability of the amygdala to emotional stimuli may contribute to the increased fear and anxiety typically associated with the short SLC6A4 allele.
人类血清素转运体基因(SLC6A4)启动子区域的一个功能性多态性与神经质和精神病理学的多个维度相关,尤其是焦虑特质,但这种基因型对这些复杂行为的预测价值并不一致。血清素[5-羟色胺,(5-HT)]功能影响正常恐惧以及病理性焦虑,在动物模型和临床研究中,这些行为严重依赖杏仁核。我们现在报告,血清素转运体(5-HTT)启动子多态性短等位基因的一个或两个拷贝与5-HTT表达和功能降低以及恐惧和焦虑相关行为增加有关,与长等位基因纯合个体相比,通过BOLD功能磁共振成像评估,这些个体在面对恐惧刺激时杏仁核神经元活动更强。这些结果证明了人类情绪行为背后脑区反应的基因驱动变异,并表明杏仁核对情绪刺激的不同兴奋性可能导致通常与短SLC6A4等位基因相关的恐惧和焦虑增加。