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

References

• Barrett LW, Fletcher S, Wilton SD. 2012. Regulation of eukaryotic gene expression by the untranslated gene regions and other non-coding elements. Cell Mol Life Sci 69:3613–3634.
   PubMed Web of Science ®Google Scholar
• Bhat S, Dao DT, Terrillion CE, Arad M, Smith RJ, Soldatov NM, et al. 2012. CACNA1C (Cav1.2) in the pathophysiology of psychiatric disease. Prog Neurobiol 99:1–14.
   PubMed Web of Science ®Google Scholar
• Bigos KL, Mattay VS, Callicott JH, Straub RE, Vakkalanka R, Kolachana B, et al. 2010. Genetic variation in CACNA1C affects brain circuitries related to mental illness. Arch Gen Psychiatry 67:939–945.
   PubMed Web of Science ®Google Scholar
• Buretic-Tomljanovic A, Tomljanovic D. 2009. Human genome variation in health and in neuropsychiatric disorders. Psychiatr Danub 21:562–569.
   PubMed Web of Science ®Google Scholar
• Calin-Jageman I, Lee A. 2008. Cav1 L-type Ca2+ channel signaling complexes in neurons. J Neurochem 105:573–583.
   PubMed Web of Science ®Google Scholar
• Casamassima F, Hay AC, Benedetti A, Lattanzi L, Cassano GB, Perlis RH. 2010. L-type calcium channels and psychiatric disorders: a brief review. Am J Med Genet B Neuropsychiatr Genet 153B:1373–1390.
   PubMed Web of Science ®Google Scholar
• Catterall WA. 2000. Structure and regulation of voltage-gated Ca2+ channels. Annu Rev Cell Dev Biol 16:521–555.
   PubMed Web of Science ®Google Scholar
• Chen B, Wilkening S, Drechsel M, Hemminki K. 2009. SNP_tools: a compact tool package for analysis and conversion of genotype data for MS-Excel. BMC Res Notes 2:214.
   PubMedGoogle Scholar
• Cichon S, Muhleisen TW, Degenhardt FA, Mattheisen M, Miro X, Strohmaier J, et al. 2011. Genome-wide association study identifies genetic variation in neurocan as a susceptibility factor for bipolar disorder. Am J Hum Genet 88:372–381.
   PubMed Web of Science ®Google Scholar
• Cross-Disorder Group of the Psychiatric Genomics Consortium. 2013. Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis. Lancet 381: 1371–1379.
   PubMed Web of Science ®Google Scholar
• Davignon JL, Kimoto M, Kindler V, De Kossodo S, Vassalli P, Izui S. 1988. Selective production of interleukin 3 (IL 3) and granulocyte-macrophage colony-stimulating factor (GM-CSF) in vitro by murine L3T4 T cells: lack of spontaneous IL 3 and GM-CSF production by Ly-2−/L3T4− lpr subset. Eur J Immunol 18:1367–1372.
   PubMed Web of Science ®Google Scholar
• Emamghoreishi M, Li PP, Schlichter L, Parikh SV, Cooke R, Warsh JJ. 2000. Associated disturbances in calcium homeostasis and G protein-mediated cAMP signaling in bipolar I disorder. Biol Psychiatry 48:665–673.
   PubMed Web of Science ®Google Scholar
• Emamghoreishi M, Schlichter L, Li PP, Parikh S, Sen J, Kamble A, et al. 1997. High intracellular calcium concentrations in transformed lymphoblasts from subjects with bipolar I disorder. Am J Psychiatry 154:976–982.
   PubMed Web of Science ®Google Scholar
• Erk S, Meyer-Lindenberg A, Schnell K, Opitz von Boberfeld C, Esslinger C, Kirsch P, et al. 2010. Brain function in carriers of a genome-wide supported bipolar disorder variant. Arch Gen Psychiatry 67:803–811.
   PubMed Web of Science ®Google Scholar
• Ertel EA, Campbell KP, Harpold MM, Hofmann F, Mori Y, Perez-Reyes E, et al. 2000. Nomenclature of voltage-gated calcium channels. Neuron 25:533–535.
   PubMed Web of Science ®Google Scholar
• Faul F, Erdfelder E, Lang AG, Buchner A. 2007. G*Power 3: a flexible statistical power analysis program for the social, behavioral, and biomedical sciences. Behav Res Methods 39: 175–191.
   PubMed Web of Science ®Google Scholar
• Ferreira MA, O’Donovan MC, Meng YA, Jones IR, Ruderfer DM, Jones L, et al. 2008. Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder. Nat Genet 40:1056–1058.
   PubMed Web of Science ®Google Scholar
• First MB, Spitzer RL, Robert L, Gibbon M, Williams JBW, 1995a. Structured Clinical Interview for DSM-IV Axis I Disorders— Non-patient Edition (SCID-I/NP, Version 2.0). New York State Psychiatric Institute, Biometric Research Department, New York.
   Google Scholar
• First MB, Spitzer RL, Robert L, Gibbon M, Williams JBW, 1995b. Structured Clinical Interview for DSM-IV Axis I Disorders— Patient Edition (SCID-I/P, Version 2.0). New York State Psychiatric Institute, Biometric Research Department, New York.
   Google Scholar
• Fisar Z, Hroudova J. 2010. Intracellular signalling pathways and mood disorders. Folia Biol (Praha) 56:135–148.
   PubMed Web of Science ®Google Scholar
• Fischer HG, Reichmann G. 2001. Brain dendritic cells and macrophages/microglia in central nervous system inflammation. J Immunol 166:2717–2726.
   PubMed Web of Science ®Google Scholar
• Franke B, Vasquez AA, Veltman JA, Brunner HG, Rijpkema M, Fernandez G. 2010. Genetic variation in CACNA1C, a gene associated with bipolar disorder, influences brainstem rather than gray matter volume in healthy individuals. Biol Psychiatry 68:586–588.
   PubMed Web of Science ®Google Scholar
• Gershon ES, Grennan K, Busnello J, Badner JA, Ovsiew F, Memon S, et al. 2014. 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. Mol Psychiatry 19:890–894.
   PubMed Web of Science ®Google Scholar
• Gleichmann M, Mattson MP. 2011. Neuronal calcium homeostasis and dysregulation. Antioxid Redox Signal 14:1261–1273.
   PubMed Web of Science ®Google Scholar
• Guillemin G, Boussin FD, Le Grand R, Croitoru J, Coffigny H, Dormont D. 1996. Granulocyte macrophage colony stimulating factor stimulates in vitro proliferation of astrocytes derived from simian mature brains. Glia 16:71–80.
   PubMed Web of Science ®Google Scholar
• Hayashi K, Ohta S, Kawakami Y, Toda M. 2009. Activation of dendritic-like cells and neural stem/progenitor cells in injured spinal cord by GM-CSF. Neurosci Res 64:96–103.
   PubMed Web of Science ®Google Scholar
• Hercus TR, Thomas D, Guthridge MA, Ekert PG, King-Scott J, Parker MW, et al. 2009. The granulocyte-macrophage colony-stimulating factor receptor: linking its structure to cell signaling and its role in disease. Blood 114:1289–1298.
   PubMed Web of Science ®Google Scholar
• Huang X, Choi JK, Park SR, Ha Y, Park H, Yoon SH, et al. 2007. GM-CSF inhibits apoptosis of neural cells via regulating the expression of apoptosis-related proteins. Neurosci Res 58: 50–57.
   PubMed Web of Science ®Google Scholar
• Jaenisch R, Bird A. 2003. Epigenetic regulation of gene expression: how the genome integrates intrinsic and environmental signals. Nat Genet 33(Suppl):245–254.
   PubMed Web of Science ®Google Scholar
• Kato T. 2008. Molecular neurobiology of bipolar disorder: a disease of “mood-stabilizing neurons”? Trends Neurosci 31:495–503.
   PubMed Web of Science ®Google Scholar
• Kempton MJ, Ruberto G, Vassos E, Tatarelli R, Girardi P, Collier D, et al. 2009. Effects of the CACNA1C risk allele for bipolar disorder on cerebral gray matter volume in healthy individuals. Am J Psychiatry 166:1413–1414.
   PubMed Web of Science ®Google Scholar
• Kim HW, Rapoport SI, Rao JS. 2010. Altered expression of apoptotic factors and synaptic markers in postmortem brain from bipolar disorder patients. Neurobiol Dis 37:596–603.
   PubMed Web of Science ®Google Scholar
• Kim NK, Choi BH, Huang X, Snyder BJ, Bukhari S, Kong TH, et al. 2009. Granulocyte-macrophage colony-stimulating factor promotes survival of dopaminergic neurons in the 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine-induced murine Parkinson's disease model. Eur J Neurosci 29:891–900.
   PubMed Web of Science ®Google Scholar
• Labrie V, Pai S, Petronis A. 2012. Epigenetics of major psychosis: progress, problems and perspectives. Trends Genet: TIG 28:427–435.
   PubMed Web of Science ®Google Scholar
• Liu Y, Blackwood DH, Caesar S, de Geus EJ, Farmer A, Ferreira MA, et al. 2011. Meta-analysis of genome-wide association data of bipolar disorder and major depressive disorder. Mol Psychiatry 16:2–4.
   PubMed Web of Science ®Google Scholar
• McMahon FJ, Simpson SG, McInnis MG, Badner JA, MacKinnon DF, DePaulo JR. 2001. Linkage of bipolar disorder to chromosome 18q and the validity of bipolar II disorder. Arch Gen Psychiatry 58:1025–1031.
   PubMed Web of Science ®Google Scholar
• Nowycky MC, Fox AP, Tsien RW. 1985. Long-opening mode of gating of neuronal calcium channels and its promotion by the dihydropyridine calcium agonist Bay K 8644. Proc Natl Acad Sci USA 82:2178–2182.
   PubMed Web of Science ®Google Scholar
• Pinton P, Rizzuto R. 2006. Bcl-2 and Ca2+ homeostasis in the endoplasmic reticulum. Cell Death Differ 13:1409–1418.
   PubMed Web of Science ®Google Scholar
• Psychiatric GWAS Consortium Bipolar Disorder Working Group. 2011. Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4. Nat Genet 43:977–983.
   PubMed Web of Science ®Google Scholar
• Quinn EM, Hill M, Anney R, Gill M, Corvin AP, Morris DW. 2010. Evidence for cis-acting regulation of ANK3 and CACNA1C gene expression. Bipolar Disord 12:440–445.
   PubMed Web of Science ®Google Scholar
• Rodriguez S, Gaunt TR, Day IN. 2009. Hardy-Weinberg equilibrium testing of biological ascertainment for Mendelian randomization studies. Am J Epidemiol 169:505–514.
   PubMed Web of Science ®Google Scholar
• Rogozin IB, Carmel L, Csuros M, Koonin EV. 2012. Origin and evolution of spliceosomal introns. Biology Direct 7:11.
   PubMed Web of Science ®Google Scholar
• Roussos P, Giakoumaki SG, Georgakopoulos A, Robakis NK, Bitsios P. 2011. The CACNA1C and ANK3 risk alleles impact on affective personality traits and startle reactivity but not on cognition or gating in healthy males. Bipolar Disord 13: 250–259.
   PubMed Web of Science ®Google Scholar
• Salvadore G, Nugent AC, Chen G, Akula N, Yuan P, Cannon DM, et al. 2009. Bcl-2 polymorphism influences gray matter volume in the ventral striatum in healthy humans. Biol Psychiatry 66:804–807.
   PubMed Web of Science ®Google Scholar
• Santambrogio L, Belyanskaya SL, Fischer FR, Cipriani B, Brosnan CF, Ricciardi-Castagnoli P, et al. 2001. Developmental plasticity of CNS microglia. Proc Natl Acad Sci USA 98:6295–6300.
   PubMed Web of Science ®Google Scholar
• Schermer C, Humpel C. 2002. Granulocyte macrophage-colony stimulating factor activates microglia in rat cortex organotypic brain slices. Neurosci Lett 328:180–184.
   PubMed Web of Science ®Google Scholar
• Scott LJ, Muglia P, Kong XQ, Guan W, Flickinger M, Upmanyu R, et al. 2009. Genome-wide association and meta-analysis of bipolar disorder in individuals of European ancestry. Proc Natl Acad Sci USA 106:7501–7506.
   PubMed Web of Science ®Google Scholar
• Silva WA, Jr., Costa MC, Valente V, Sousa JF, Paco-Larson ML, Espreafico EM, et al. 2001. PCR template preparation for capillary DNA sequencing. Biotechniques 30: 537–542.
   PubMed Web of Science ®Google Scholar
• Sklar P, Smoller JW, Fan J, Ferreira MA, Perlis RH, Chambert K, et al. 2008. Whole-genome association study of bipolar disorder. Mol Psychiatry 13:558–569.
   PubMed Web of Science ®Google Scholar
• Soeiro-de-Souza MG, Dias VV, Figueira ML, Forlenza OV, Gattaz WF, Zarate Jr CA, et al. 2012. Translating neurotrophic and cellular plasticity: from pathophysiology to improved therapeutics for bipolar disorder. Acta Psychiatr Scand 126: 332–341.
   PubMed Web of Science ®Google Scholar
• Soeiro-de-Souza MG, Salvadore G, Moreno RA, Otaduy MC, Chaim KT, Gattaz WF, et al. 2013. Bcl-2 rs956572 Polymorphism is associated with increased anterior cingulate cortical glutamate in euthymic bipolar I disorder. Neuropsychopharmacology 38:468–475.
   PubMed Web of Science ®Google Scholar
• Soldatov NM. 1994. Genomic structure of human L-type Ca2+ channel. Genomics 22:77–87.
   PubMed Web of Science ®Google Scholar
• Stine OC, Xu J, Koskela R, McMahon FJ, Gschwend M, Friddle C, et al. 1995. Evidence for linkage of bipolar disorder to chromosome 18 with a parent-of-origin effect. Am J Hum Genet 57:1384–1394.
   PubMed Web of Science ®Google Scholar
• Striessnig J, Koschak A, Sinnegger-Brauns MJ, Hetzenauer A, Nguyen NK, Busquet P, et al. 2006. Role of voltage-gated L-type Ca2+ channel isoforms for brain function. Biochem Soc Trans 34:903–909.
   PubMed Web of Science ®Google Scholar
• Uemura T, Green M, Corson TW, Perova T, Li PP, Warsh JJ. 2011. Bcl-2 SNP rs956572 associates with disrupted intracellular calcium homeostasis in bipolar I disorder. Bipolar Disord 13:41–51.
   PubMed Web of Science ®Google Scholar
• Verheyen GR, Villafuerte SM, Del-Favero J, Souery D, Mendlewicz J, Van Broeckhoven C, et al. 1999. Genetic refinement and physical mapping of a chromosome 18q candidate region for bipolar disorder. Eur J Hum Genet 7:427–434.
   PubMed Web of Science ®Google Scholar
• Wang F, McIntosh AM, He Y, Gelernter J, Blumberg HP. 2011. The association of genetic variation in CACNA1C with structure and function of a frontotemporal system. Bipolar Disord 13:696–700.
   PubMed Web of Science ®Google Scholar
• Warsh JJ, Andreopoulos S, Li PP. 2004. Role of intracellular calcium signaling in the pathophysiology and pharmacotherapy of bipolar disorder: current status. Clin Neuroscience Res 4:201–213.
   Web of Science ®Google Scholar
• West AE, Chen WG, Dalva MB, Dolmetsch RE, Kornhauser JM, Shaywitz AJ, et al. 2001. Calcium regulation of neuronal gene expression. Proc Natl Acad Sci USA 98:11024–11031.
   PubMed Web of Science ®Google Scholar
• Wolffe AP, Matzke MA. 1999. Epigenetics: regulation through repression. Science 286:481–486.
   PubMed Web of Science ®Google Scholar
• Yu P, Ma D, Xu M. 2005. Nested genes in the human genome. Genomics 86:414–422.
   PubMed Web of Science ®Google Scholar
• Zundorf G, Reiser G. 2011. Calcium dysregulation and homeostasis of neural calcium in the molecular mechanisms of neurodegenerative diseases provide multiple targets for neuroprotection. Antioxid Redox Signal 14:1275–1288.
   PubMed Web of Science ®Google Scholar