Smoller Jordan W, Gallagher Patience J, Duncan Laramie E, McGrath Lauren M, Haddad Stephen A, Holmes Avram J, Wolf Aaron B, Hilker Sidney, Block Stefanie R, Weill Sydney, Young Sarah, Choi Eun Young, Rosenbaum Jerrold F, Biederman Joseph, Faraone Stephen V, Roffman Joshua L, Manfro Gisele G, Blaya Carolina, Hirshfeld-Becker Dina R, Stein Murray B, Van Ameringen Michael, Tolin David F, Otto Michael W, Pollack Mark H, Simon Naomi M, Buckner Randy L, Ongür Dost, Cohen Bruce M
Psychiatric and Neurodevelopmental Genetics Unit , Massachusetts General Hospital, Boston, Massachusetts; Harvard School of Public Health, Boston, Massachusetts.
Psychiatric and Neurodevelopmental Genetics Unit , Massachusetts General Hospital, Boston, Massachusetts.
Biol Psychiatry. 2014 Dec 1;76(11):902-10. doi: 10.1016/j.biopsych.2013.12.018. Epub 2014 Jan 18.
Individuals with panic disorder (PD) exhibit a hypersensitivity to inhaled carbon dioxide, possibly reflecting a lowered threshold for sensing signals of suffocation. Animal studies have shown that carbon dioxide-mediated fear behavior depends on chemosensing of acidosis in the amygdala via the acid-sensing ion channel ASIC1a. We examined whether the human ortholog of the ASIC1a gene, ACCN2, is associated with the presence of PD and with amygdala structure and function.
We conducted a case-control analysis (n = 414 PD cases and 846 healthy controls) of ACCN2 single nucleotide polymorphisms and PD. We then tested whether variants showing significant association with PD are also associated with amygdala volume (n = 1048) or task-evoked reactivity to emotional stimuli (n = 103) in healthy individuals.
Two single nucleotide polymorphisms at the ACCN2 locus showed evidence of association with PD: rs685012 (odds ratio = 1.32, gene-wise corrected p = .011) and rs10875995 (odds ratio = 1.26, gene-wise corrected p = .046). The association appeared to be stronger when early-onset (age ≤ 20 years) PD cases and when PD cases with prominent respiratory symptoms were compared with controls. The PD risk allele at rs10875995 was associated with increased amygdala volume (p = .035) as well as task-evoked amygdala reactivity to fearful and angry faces (p = .0048).
Genetic variation at ACCN2 appears to be associated with PD and with amygdala phenotypes that have been linked to proneness to anxiety. These results support the possibility that modulation of acid-sensing ion channels may have therapeutic potential for PD.
惊恐障碍(PD)患者对吸入二氧化碳表现出超敏反应,这可能反映出其对窒息信号的感知阈值降低。动物研究表明,二氧化碳介导的恐惧行为取决于杏仁核中通过酸敏感离子通道ASIC1a对酸中毒的化学感应。我们研究了ASIC1a基因的人类同源基因ACCN2是否与PD的存在以及杏仁核的结构和功能相关。
我们对ACCN2单核苷酸多态性与PD进行了病例对照分析(414例PD患者和846名健康对照)。然后,我们测试了与PD有显著关联的变异是否也与健康个体的杏仁核体积(n = 1048)或对情绪刺激任务诱发的反应性(n = 103)相关。
ACCN2基因座的两个单核苷酸多态性显示出与PD相关的证据:rs685012(优势比 = 1.32,基因校正p = 0.011)和rs10875995(优势比 = 1.26,基因校正p = 0.046)。当将早发型(年龄≤ 20岁)PD患者以及有明显呼吸道症状的PD患者与对照进行比较时,这种关联似乎更强。rs10875995处的PD风险等位基因与杏仁核体积增加(p = 0.035)以及任务诱发的杏仁核对恐惧和愤怒面孔的反应性增加相关(p = 0.0048)。
ACCN2的基因变异似乎与PD以及与焦虑倾向相关的杏仁核表型有关。这些结果支持酸敏感离子通道的调节可能对PD具有治疗潜力的可能性。