ArticlePloS one2016
Functional Characterization of Schizophrenia-Associated Variation in CACNA1C.
Article in PloS one, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 52 papers, 2 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
52 citing papers in PubMed, 2 syntheses or guidelines pooled it, 83 citations in OpenAlex.
- The landscape of GWAS validation; systematic review identifying 309 validated non-coding variants across 130 human diseases.BMC medical genomics · 2022Pooled it
- The genome-wide supported CACNA1C gene polymorphisms and the risk of schizophrenia: an updated meta-analysis.BMC medical genetics · 2020Pooled it
- The psychiatric risk gene CACNA1C encodes distinct full-length isoforms in human brain, heart and aorta.Molecular psychiatry · 2026Article
- Transcriptomic Analysis of the Amygdala in Subjects with Schizophrenia, Bipolar Disorder and Major Depressive Disorder Reveals Differentially Altered Metabolic Pathways.Schizophrenia bulletin · 2026Article
- Astrocytic abnormalities in brain-specificChannels (Austin, Tex.) · 2025Article
- Structure of a polymorphic repeat at theProceedings of the National Academy of Sciences of the United States of America · 2025Article
- The Impact of Overexpression of the Mouse Ortholog ofBiological psychiatry global open science · 2025Article
- Structure of a polymorphic repeat at themedRxiv : the preprint server for health sciences · 2025Article
- Reduced Gene Dosage of the Psychiatric Risk GeneInternational journal of molecular sciences · 2025Article
- Differential serum levels of CACNA1C, circadian rhythm and stress response molecules in subjects with bipolar disorder: Associations with genetic and clinical factors.Journal of affective disorders · 2024Article
- Differentially Altered Metabolic Pathways in the Amygdala of Subjects with Schizophrenia, Bipolar Disorder and Major Depressive Disorder.medRxiv : the preprint server for health sciences · 2024Article
- Differential Serum Levels of CACNA1C, Circadian Rhythm and Stress Response Molecules in Subjects with Bipolar Disorder: Associations with Genetic and Clinical Factors.medRxiv : the preprint server for health sciences · 2024Article
- An Emerging Role for Enhancer RNAs in Brain Disorders.Neuromolecular medicine · 2024Review
- Effect of rs1108580 of DBH and rs1006737 of CACNA1C on Cognition and Tardive Dyskinesia in a North Indian Schizophrenia Cohort.Molecular neurobiology · 2023Article
- L-type calcium channels and neuropsychiatric diseases: Insights into genetic risk variant-associated genomic regulation and impact on brain development.Channels (Austin, Tex.) · 2023Review
- Temperament traits mediate the relationship between CACNA1C polymorphisms and bipolar disorder in cisgender women.European archives of psychiatry and clinical neuroscience · 2023Article
- The association of genetic variation in CACNA1C with resting-state functional connectivity in youth bipolar disorder.International journal of bipolar disorders · 2023Article
- BDNF Levels According to Variations in the CACNA1C Gene: Sex-Based Disparity.Cellular and molecular neurobiology · 2023Article
- Genomic regulatory sequences in the pathogenesis of bipolar disorder.Frontiers in psychiatry · 2023Review
- The threat of programmed DNA damage to neuronal genome integrity and plasticity.Nature genetics · 2022Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 1 institution in 1 country.
Funding
Abstract
Calcium channel subunits, including CACNA1C, have been associated with multiple psychiatric disorders. Specifically, genome wide association studies (GWAS) have repeatedly identified the single nucleotide polymorphism (SNP) rs1006737 in intron 3 of CACNA1C to be strongly associated with schizophrenia and bipolar disorder. Here, we show that rs1006737 marks a quantitative trait locus for CACNA1C transcript levels. We test 16 SNPs in high linkage disequilibrium with rs1007637 and find one, rs4765905, consistently showing allele-dependent regulatory function in reporter assays. We find allele-specific protein binding for 13 SNPs including rs4765905. Using protein microarrays, we identify several proteins binding ≥3 SNPs, but not control sequences, suggesting possible functional interactions and combinatorial haplotype effects. Finally, using circular chromatin conformation capture, we show interaction of the disease-associated region including the 16 SNPs with the CACNA1C promoter and other potential regulatory regions. Our results elucidate the pathogenic relevance of one of the best-supported risk loci for schizophrenia and bipolar disorder.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.