Medizinische Fakultät, Universität zu Köln, Germany.
Eur Psychiatry. 2011 Apr;26(3):135-7. doi: 10.1016/j.eurpsy.2010.10.004. Epub 2011 Feb 2.
The polymorphism rs1006737 within the CACNA1C gene is associated with increased risk for bipolar disorder (BD) and variations in brain morphology and function of subcortical regions. Here we sought to investigate the influence of CACNA1C polymorphism on key subcortical brain structures implicated in the pathophysiology of BD.
Structural magnetic resonance imaging scans were acquired from 41 euthymic patients with BD and 40 healthy controls, who were also genotyped for the CACNA1C rs1006737 polymorphism. The effect of diagnosis, genotype and their interaction was examined in predefined volumes of interest in the basal ganglia, hypothalamus and amygdala extracted using SPM5.
Carriers of the CACNA1C rs1006737 risk allele showed increased grey matter density in the right amygdala and right hypothalamus irrespective of diagnosis. An interaction between genotype and diagnosis was observed in the left putamen which was smaller in BD patients carrying the risk allele than in healthy controls.
The CACNA1C rs1006737 polymorphism influences anatomical variation within subcortical regions involved in emotional processing.
CACNA1C 基因内的 rs1006737 多态性与双相情感障碍（BD）的风险增加以及皮质下区域的脑形态和功能变化有关。在这里，我们试图研究 CACNA1C 多态性对 BD 病理生理学中涉及的关键皮质下脑结构的影响。
从 41 名病情稳定的 BD 患者和 40 名健康对照者中采集结构磁共振成像扫描，这些对照者也被 CACNA1C rs1006737 多态性基因分型。使用 SPM5 提取基底神经节、下丘脑和杏仁核的预定义体积兴趣区，检查诊断、基因型及其相互作用的影响。
无论诊断如何，CACNA1C rs1006737 风险等位基因的携带者在右侧杏仁核和右侧下丘脑的灰质密度增加。在携带风险等位基因的 BD 患者的左侧壳核中观察到基因型和诊断之间的相互作用，该区域小于健康对照组。
CACNA1C rs1006737 多态性影响参与情绪处理的皮质下区域的解剖变异。
