Lancaster T M, Foley S, Tansey K E, Linden D E J, Caseras X
Neuroscience and Mental Health Research Institute, Cardiff University, Hadyn Ellis Building, Maindy Road, Cardiff, Wales, UK.
Cardiff University Brain Research Imaging Centre (CUBRIC), School of Psychology, Cardiff University, 70 Park Place, Cardiff, CF10 3AT, Wales, UK.
Eur Arch Psychiatry Clin Neurosci. 2016 Apr;266(3):269-75. doi: 10.1007/s00406-015-0609-x. Epub 2015 Jun 6.
Genome-wide association studies suggest that genetic variation within L-type calcium channel subunits confer risk to psychosis. The single nucleotide polymorphism at rs1006737 in CACNA1C has been associated with both schizophrenia and bipolar disorder and with several intermediate phenotypes that may serve as neurobiological antecedents, linking psychosis to genetic aetiology. Amongst others, it has been implicated in alterations in amygdala structure and function. In the present study, we show that the risk allele (A) is associated with increased amygdala volume in healthy individuals (n = 258). This observation reinforces a hypothesis that genetic variation may confer risk to psychosis via alterations in limbic structures. Further study of CACNA1C using intermediate phenotypes for psychosis will determine the mechanisms by which variation in this gene confers risk.
全基因组关联研究表明，L型钙通道亚基内的基因变异会使人患精神病的风险增加。CACNA1C基因中rs1006737位点的单核苷酸多态性与精神分裂症和双相情感障碍均有关联，还与几种可能作为神经生物学先兆的中间表型有关，从而将精神病与遗传病因联系起来。其中，它与杏仁核结构和功能的改变有关。在本研究中，我们发现风险等位基因（A）与健康个体（n = 258）杏仁核体积增大有关。这一观察结果强化了一种假说，即基因变异可能通过边缘系统结构的改变使人患精神病的风险增加。使用精神病的中间表型对CACNA1C进行进一步研究将确定该基因变异导致风险增加的机制。
