Key result
The risk allele (A) in the CACNA1C rs1006737 SNP was significantly associated with a decreased cerebrospinal fluid hyperphosphorylated tau/total tau ratio in patients with bipolar disorder.
Why the study?
Does the CACNA1C rs1006737 risk allele alter CSF tau phosphorylation in patients with bipolar disorder?
Case-Control (n=186)
No
Does the CACNA1C rs1006737 risk allele alter CSF tau phosphorylation in patients with bipolar disorder?
p-value: p=<0.001
The CACNA1C rs1006737 risk allele is associated with altered tau phosphorylation in the cerebrospinal fluid of patients with bipolar disorder, linking a genetic risk variant to neuroaxonal plasticity.
Does not yet warrant clinical action in bipolar disorder; leaves open CACNA1C-tau links pending replication and longitudinal data.
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.
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Jakobsson et al. (2015) conducted a case-control in Bipolar disorder (n=186). CACNA1C rs1006737 SNP (A allele) vs. Non-risk allele carriers and healthy controls was evaluated on Cerebrospinal fluid hyperphosphorylated tau/total tau (P-tau/T-tau) ratio (p=<0.001). The risk allele (A) in the CACNA1C rs1006737 SNP was significantly associated with a decreased cerebrospinal fluid hyperphosphorylated tau/total tau ratio in patients with bipolar disorder.
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