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.