Postdoctoral Fellow, Section of Psychiatry and Neurochemistry, Sahlgrenska Academy at Gothenburg University, Sweden.
Associate Professor, Section of Psychiatry and Neurochemistry, Sahlgrenska Academy at Gothenburg University, Sweden.
Br J Psychiatry. 2021 Feb;218(2):77-79. doi: 10.1192/bjp.2019.173.
Variation in the CACNA1C gene has been associated with bipolar disorder in several genome-wide association studies. This gene encodes the alpha 1C subunit of L-type voltage-gated calcium channels, which play an essential role in neurons. We analysed 39 biomarkers in either cerebrospinal fluid or serum in relation to six different CACNA1C variants in 282 patients with bipolar disorder and 90 controls. We report associations of CACNA1C risk alleles with serum levels of BDNF as well as tissue plasminogen activator, which converts pro-BDNF to mature BDNF. This sheds light on links between CACNA1C genetic variants and pathophysiological mechanisms in bipolar disorder.
CACNA1C 基因的变异与几项全基因组关联研究中的双相情感障碍有关。该基因编码 L 型电压门控钙通道的α 1C 亚基，该亚基在神经元中发挥重要作用。我们分析了 282 名双相情感障碍患者和 90 名对照者的脑脊液或血清中的 39 种生物标志物与 CACNA1C 的 6 种不同变体之间的关系。我们报告了 CACNA1C 风险等位基因与血清 BDNF 以及组织型纤溶酶原激活物水平之间的关联，组织型纤溶酶原激活物可将 pro-BDNF 转化为成熟 BDNF。这揭示了 CACNA1C 遗传变异与双相情感障碍中病理生理机制之间的联系。
