rs769087

This is a intron variant variant in the CACNA1C gene.

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GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

bipolar disorder, major depressive disorder

Coleman JRI et al. “The Genetics of the Mood Disorder Spectrum: Genome-wide Association Analyses of More Than 185,000 Cases and 439,000 Controls.” Biological Psychiatry 88(2):169-184 (2020)

Allele A

OR 1.03

p 3.0e-8

N 625,026

Large GWAS

European

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Research that mentions this SNP (1)

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Effect of DISC1 SNPs on brain structure in healthy controls and patients with a history of psychosis

ReviewN=113Anna K. Kähler et al.(2012)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

This systematic review and validation study examined psychosis-associated SNPs and their effects on brain volumetry in 113 subjects (schizophrenia, bipolar disorder, at-risk mental state, and healthy controls). Of 25 studies identified in the systematic review implicating 7 SNPs in 5 genes, the authors tested these variants using voxel-based morphometry. They found FWER-corrected associations for CACNA1C rs769087-A with larger bilateral hippocampus and thalamus white matter (p = 0.026 and p = 0.036) and with larger superior frontal gyrus volume. Higher replication concordance was found for CACNA1C, ZNF804A, and BDNF variants, supporting their involvement in psychosis and brain structure.

Traits studied:Bipolar disorderBrain volumetryGrey matter volumePsychotic disordersSchizophreniaWhite matter volume

PubMed DOI Metascience Observatory

About CACNA1C

This gene encodes an alpha-1 subunit of a voltage-dependent calcium channel. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization. The alpha-1 subunit consists of 24 transmembrane segments and forms the pore through which ions pass into the cell. The calcium channel consists of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. There are multiple isoforms of each of these proteins, either encoded by different genes or the result of alternative splicing of transcripts. The protein encoded by this gene binds to and is inhibited by dihydropyridine. Alternative splicing results in many transcript variants encoding different proteins. Some of the predicted proteins may not produce functional ion channel subunits. [provided by RefSeq, Oct 2012]

rs769087

GWAS Catalog Trait Associations (1)

bipolar disorder, major depressive disorder

Research that mentions this SNP (1)

About CACNA1C

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