钙通道电压依赖性 α1C 亚基（CACNA1C）多态性与双相障碍中 tau 蛋白的异常磷酸化。
CACNA1C polymorphism and altered phosphorylation of tau in bipolar disorder.
机构信息
Joel Jakobsson, PhD, Erik Pålsson, PhD, Institute of Neuroscience and Physiology, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden; Carl Sellgren, PhD, MD, Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden; Frida Rydberg, MD, Agneta Ekman, PhD, Institute of Neuroscience and Physiology, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden; Henrik Zetterberg, PhD, MD, Institute of Neuroscience and Physiology, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden and UCL Institute of Neurology, London, UK; Kaj Blennow, PhD, MD, Institute of Neuroscience and Physiology, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden; Mikael Landén, PhD, MD, Institute of Neuroscience and Physiology, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Department of Medical Epidemiology and Biostatistics, and Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden
Joel Jakobsson, PhD, Erik Pålsson, PhD, Institute of Neuroscience and Physiology, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden; Carl Sellgren, PhD, MD, Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden; Frida Rydberg, MD, Agneta Ekman, PhD, Institute of Neuroscience and Physiology, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden; Henrik Zetterberg, PhD, MD, Institute of Neuroscience and Physiology, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden and UCL Institute of Neurology, London, UK; Kaj Blennow, PhD, MD, Institute of Neuroscience and Physiology, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden; Mikael Landén, PhD, MD, Institute of Neuroscience and Physiology, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Department of Medical Epidemiology and Biostatistics, and Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden.
出版信息
Br J Psychiatry. 2016 Feb;208(2):195-6. doi: 10.1192/bjp.bp.114.159806. Epub 2015 Nov 5.
Several genome-wide association studies and case-control studies have associated the single nucleotide polymorphism (SNP) rs1006737, situated in CACNA1C encoding the alpha 1C subunit of the L-type voltage-gated calcium channel, with bipolar disorder and other psychiatric disorders. However, the causal pathway linking genetic variants in CACNA1C with increased risk for developing brain disorders remains unclear. Here, we explored the association between the rs1006737 SNP and cerebrospinal fluid (CSF) markers. We found a significant association between the risk allele in rs1006737 and a decreased CSF hyperphosphorylated tau/total tau ratio in patients with bipolar disorder, thus linking variation in the CACNA1C gene to a neurochemical marker of neuroaxonal plasticity in those with this disorder.
几项全基因组关联研究和病例对照研究将单核苷酸多态性（SNP）rs1006737 与位于编码 L 型电压门控钙通道 α 1C 亚基的 CACNA1C 中的 SNP 联系起来，rs1006737 与双相情感障碍和其他精神障碍有关。然而，将 CACNA1C 中的遗传变异与脑疾病风险增加联系起来的因果途径仍不清楚。在这里，我们探讨了 rs1006737 SNP 与脑脊液（CSF）标志物之间的关联。我们发现 rs1006737 中的风险等位基因与双相情感障碍患者脑脊液中过度磷酸化 tau/总 tau 比值降低之间存在显著关联，从而将 CACNA1C 基因的变异与该疾病患者神经轴突可塑性的神经化学标志物联系起来。
Zotero 插件