rs1006737

Chromosome : 12 , Position: 2236129
Most conditions are affected by anywhere from hundreds to millions of genetic variants (SNPs). A single SNP usually has a minor contribution to a person’s overall genetic risk for a certain condition. That is why you shouldn't consider or act on a SNP in isolation. Instead, we use SNPs to determine polygenic risk scores (PRSs), which are the basis of most health reports.
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Reference AlleleG
Alternative Alleles:  A

Traits

Trait Variant Impact PMID Author (year)
Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined) [5 degree of freedom test] A
Lancet Smoller JW (2013)
Bipolar disorder or major depressive disorder A
Mol Psychiatry Liu Y (2010)
Schizophrenia A
Nat Genet Ripke S (2013)
Schizophrenia or bipolar disorder [SCZ or BP vs. controls] A
Mol Psychiatry Ruderfer DM (2013)

Summary

23andMe blog rs1006737 or (rs2159100) Each T at this SNP increased the odds of bipolar disorder by 1.18 times compared to having two CC copies

[PMID 19621016] The bipolar disorder risk allele at CACNA1C also confers risk of recurrent major depression and of schizophrenia

[PMID 19781653] Effect of CACNA1C rs1006737 on neural correlates of verbal fluency in healthy individuals


[PMID 20638048] Genetic variation in CACNA1C, a gene associated with bipolar disorder, influences brainstem rather than gray matter volume in healthy individuals

[PMID 20636642] Evidence for cis-acting regulation of ANK3 and CACNA1C gene expression

[PMID 20679588] Brain function in carriers of a genome-wide supported bipolar disorder variant

[PMID 20819988] Genetic Variation in CACNA1C Affects Brain Circuitries Related to Mental Illness

[PMID 21042317] Genome-wide association study of major depressive disorder: new results, meta-analysis, and lessons learned


[PMID 21292451] Initial evidence for the role of CACNA1C on subcortical brain morphology in patients with bipolar disorder


[PMID 21676128] The CACNA1C and ANK3 risk alleles impact on affective personality traits and startle reactivity but not on cognition or gating in healthy males


[PMID 22012475] The Effects of CACNA1C Gene Polymorphism on Spatial Working Memory in Both Healthy Controls and Patients with Schizophrenia or Bipolar Disorder


[PMID 22085483] The association of genetic variation in CACNA1C with structure and function of a frontotemporal system


[PMID 19388002] Phenotypic effects of a bipolar liability gene among individuals with major depressive disorder.


[PMID 19416921] Genome-wide association and meta-analysis of bipolar disorder in individuals of European ancestry.


[PMID 20098439] CACNA1C (rs1006737) is associated with schizophrenia.


[PMID 20226536] Variations in FKBP5 and BDNF genes are suggestively associated with depression in a Swedish population-based cohort.


[PMID 21078228] Effects of a CACNA1C genotype on attention networks in healthy individuals.


[PMID 21395576] No association between bipolar disorder risk polymorphisms in ANK3 and CACNA1C and common migraine.


[PMID 21767209] ANK3, CACNA1C and ZNF804A gene variants in bipolar disorders and psychosis subphenotype.


[PMID 22665259] The psychiatric vulnerability gene CACNA1C and its sex-specific relationship with personality traits, resilience factors and depressive symptoms in the general population.




[PMID 23404764] Association of rs1006737 in CACNA1C with alterations in prefrontal activation and fronto-hippocampal connectivity


[PMID 23406546] The CACNA1C risk allele selectively impacts on executive function in bipolar type I disorder


[PMID 23437284] CACNA1C Risk Variant and Amygdala Activity in Bipolar Disorder, Schizophrenia and Healthy Controls


[PMID 23979604] A rare mutation of CACNA1C in a patient with bipolar disorder, and decreased gene expression associated with a bipolar-associated common SNP of CACNA1C in brain


[PMID 24108394] Independent Modulation of Engagement and Connectivity of the Facial Network During Affect Processing by CACNA1C and ANK3 Risk Genes for Bipolar Disorder


[PMID 24262814] CACNA1C, schizophrenia and major depressive disorder in the Han Chinese population


[PMID 24269271] The impact of a CACNA1C gene polymorphism on learning and hippocampal formation in healthy individuals: A diffusion tensor imaging study


[PMID 22005930] Genome-wide association study of Alzheimer’s disease with psychotic symptoms.


[PMID 22290120] The evolutionary significance of depression in Pathogen Host Defense (PATHOS-D).


[PMID 22914618] Evidence for the impact of the CACNA1C risk allele rs1006737 on 2-year cognitive functioning in bipolar disorder.


[PMID 23070075] Replication of bipolar disorder susceptibility alleles and identification of two novel genome-wide significant associations in a new bipolar disorder case-control sample.


[PMID 23437964] Suggestive evidence for association between L-type voltage-gated calcium channel (CACNA1C) gene haplotypes and bipolar disorder in Latinos: a family-based association study.


[PMID 25124521] Replication of previous genome-wide association studies of psychiatric diseases in a large schizophrenia case-control sample from Spain


[PMID 25588813] Evaluating the association between CACNA1C rs1006737 and schizophrenia risk: A meta-analysis


[PMID 24643163] Epistatic interaction of genetic depression risk variants in the human subgenual cingulate cortex during memory encoding


[PMID 25843436] CACNA1C SNP rs1006737 associates with bipolar I disorder independent of the Bcl-2 SNP rs956572 variant and its associated effect on intracellular calcium homeostasis


[PMID 26048451] CACNA1C risk variant is associated with increased amygdala volume


[PMID 26204268] Schizophrenia Related Variants in CACNA1C also Confer Risk of Autism


[PMID 26227746] Genetic analysis of SNPs in CACNA1C and ANK3 gene with schizophrenia: A comprehensive meta-analysis


[PMID 26475575] A common risk variant in CACNA1C supports a sex-dependent effect on longitudinal functioning and functional recovery from episodes of schizophrenia-spectrum but not bipolar disorder


[PMID 26541689] CACNA1C polymorphism and altered phosphorylation of tau in bipolar disorder


[PMID 26756527] The impact of CACNA1C allelic variation on regional gray matter volume in Chinese population.

More Information

The A (minor) allele is associated with:

  • Increased risk of bipolar disorder (R).
  • Increased risk of Schizophrenia (R).

The SNP is associated with the following:

  • Autism spectrum disorder, attention deficit-hyperactivity disorder, major depressive disorder (combined) (P=5.00*10-9) (R).

Population Alleles Frequency

ethhicity frequency
African/African-American 0.4853
Latino/Admixed American 0.2748
Ashkenazi Jewish 0.2448
East Asian 0.0481
European 0.3467
Other (population not assigned) 0.3382

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