Moeller Scott J, Beebe-Wang Nicasia, Schneider Kristin E, Konova Anna B, Parvaz Muhammad A, Alia-Klein Nelly, Hurd Yasmin L, Goldstein Rita Z
Departments of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
Department of Psychology, Harvard University, Cambridge 02138, MA, USA.
Behav Brain Res. 2015 Oct 15;293:18-26. doi: 10.1016/j.bbr.2015.07.004. Epub 2015 Jul 8.
Chronic exposure to drugs of abuse perturbs the endogenous opioid system, which plays a critical role in the development and maintenance of addictive disorders. Opioid genetics may therefore play an important modulatory role in the expression of substance use disorders, but these genes have not been extensively characterized, especially in humans. In the current imaging genetics study, we investigated a single nucleotide polymorphism (SNP) of the protein-coding proenkephalin gene (PENK: rs2609997, recently shown to be associated with cannabis dependence) in 55 individuals with cocaine use disorder and 37 healthy controls. Analyses tested for PENK associations with fMRI response to error (during a classical color-word Stroop task) and gray matter volume (voxel-based morphometry) as a function of Diagnosis (cocaine, control). Results revealed whole-brain Diagnosis×PENK interactions on the neural response to errors (fMRI error>correct contrast) in the right putamen, left rostral anterior cingulate cortex/medial orbitofrontal cortex, and right inferior frontal gyrus; there was also a significant Diagnosis×PENK interaction on right inferior frontal gyrus gray matter volume. These interactions were driven by differences between individuals with cocaine use disorders and controls that were accentuated in individuals carrying the higher-risk PENK C-allele. Taken together, the PENK polymorphism-and potentially opioid neurotransmission more generally-modulates functioning and structural integrity of brain regions previously implicated in error-related processing. PENK could potentially render a subgroup of individuals with cocaine use disorder (i.e., C-allele carriers) more sensitive to mistakes or other related challenges; in future studies, these results could contribute to the development of individualized genetics-informed treatments.
长期接触滥用药物会扰乱内源性阿片系统,该系统在成瘾性疾病的发生和维持中起着关键作用。因此,阿片类药物遗传学可能在物质使用障碍的表达中发挥重要的调节作用,但这些基因尚未得到广泛的表征,尤其是在人类中。在当前的影像遗传学研究中,我们调查了55名可卡因使用障碍患者和37名健康对照者中蛋白质编码前脑啡肽基因(PENK:rs2609997,最近被证明与大麻依赖有关)的单核苷酸多态性(SNP)。分析测试了PENK与功能磁共振成像对错误的反应(在经典的颜色-单词Stroop任务中)以及灰质体积(基于体素的形态测量)之间的关联,作为诊断(可卡因、对照)的函数。结果显示,在右侧壳核、左侧喙部前扣带回皮质/内侧眶额皮质和右侧额下回,全脑诊断×PENK相互作用对错误的神经反应(功能磁共振成像错误>正确对比)有影响;右侧额下回灰质体积也存在显著的诊断×PENK相互作用。这些相互作用是由可卡因使用障碍患者和对照者之间的差异驱动的,而这种差异在携带高风险PENK C等位基因的个体中更为明显。综上所述,PENK多态性——以及更普遍的潜在阿片类神经传递——调节了先前与错误相关处理有关的脑区的功能和结构完整性。PENK可能会使一部分可卡因使用障碍患者(即C等位基因携带者)对错误或其他相关挑战更加敏感;在未来的研究中,这些结果可能有助于开发个性化的基于遗传学的治疗方法。