Identification of rare high-risk copy number variants affecting the dopamine transporter gene in mental disorders

References

• Meyer-Lindenberg A, Miletich RS, Kohn PD, Esposito G, Carson RE, Quarantelli M, et al. Reduced prefrontal activity predicts exaggerated striatal dopaminergic function in schizophrenia. Nat Neurosci 2002;5:267–71.
   PubMed Web of Science ®Google Scholar
• Howes OD, Kapur S. The dopamine hypothesis of schizophrenia: Version III – the final common pathway. Schizophr Bull 2009;35:549–62.
   PubMed Web of Science ®Google Scholar
• Meisenzahl EM, Schmitt GJ, Scheuerecker J, Möller H-J. The role of dopamine for the pathophysiology of schizophrenia. Int Rev Psychiatry 2007;19:337–45.
   PubMed Web of Science ®Google Scholar
• Elhwuegi AS. Central monoamines and their role in major depression. Prog Neuropsychopharmacol Biol Psychiatry 2004;28:435–51.
   PubMed Web of Science ®Google Scholar
• Dailly E, Chenu F, Renard CE, Bourin M. Dopamine, depression and antidepressants. Fundam Clin Pharmacol 2004;18:601–7.
   PubMed Web of Science ®Google Scholar
• D’Aquila PS, Collu M, Gessa GL, Serra G. The role of dopamine in the mechanism of action of antidepressant drugs. Eur J Pharmacol 2000;405:365–73.
   PubMed Web of Science ®Google Scholar
• Giros B, Jaber M, Jones SR, Wightman RM, Caron MG. Hyperlocomotion and indifference to cocaine and amphetamine in mice lacking the dopamine transporter. Nature 1996;379: 606–12.
   PubMed Web of Science ®Google Scholar
• Zhang X, Bearer EL, Boulat B, Hall FS, Uhl GR, Jacobs RE. Altered neurocircuitry in the dopamine transporter knockout mouse brain. PLoS ONE 2010;5:e11506.
   PubMed Web of Science ®Google Scholar
• Laakso A, Bergman J, Haaparanta M, Vilkman H, Solin O, Syvälahti E, et al. Decreased striatal dopamine transporter binding in vivo in chronic schizophrenia. Schizophr Res 2001;52:115–20.
   PubMed Web of Science ®Google Scholar
• Knable MB, Hyde TM, Herman MM, Carter JM, Bigelow L, Kleinman JE. Quantitative autoradiography of dopamine-D1 receptors, D2 receptors, and dopamine uptake sites in postmortem striatal specimens from schizophrenic patients. Biol Psychiatry 1994;36:827–35.
   PubMed Web of Science ®Google Scholar
• Laasonen-Balk T, Kuikka J, Viinamäki H, Husso-Saastamoinen M, Lehtonen J, Tiihonen J. Striatal dopamine transporter density in major depression. Psychopharmacology (Berl) 1999;144:282–5.
   PubMed Web of Science ®Google Scholar
• Giros B, el Mestikawy S, Godinot N, Zheng K, Han H, Yang-Feng T, et al. Cloning, pharmacological characterization, and chromosome assignment of the human dopamine transporter. Mol Pharmacol 1992;42:383–90.
   PubMed Web of Science ®Google Scholar
• Vandenbergh DJ, Persico AM, Uhl GR. A human dopamine transporter cDNA predicts reduced glycosylation, displays a novel repetitive element and provides racially-dimorphic TaqI RFLPs. Brain Res Mol Brain Res 1992;15:161–6.
   PubMedGoogle Scholar
• Dong C, Wong M-L, Licinio J. Sequence variations of ABCB1, SLC6A2, SLC6A3, SLC6A4, CREB1, CRHR1 and NTRK2: Association with major depression and antidepressant response in Mexican-Americans. Mol Psychiatry 2009;14:1105–18.
   PubMed Web of Science ®Google Scholar
• Prata DP, Mechelli A, Picchioni MM, Fu CHY, Toulopoulou T, Bramon E, et al. Altered effect of dopamine transporter 3’UTR VNTR genotype on prefrontal and striatal function in schizophrenia. Arch Gen Psychiatry 2009;66:1162–72.
   PubMed Web of Science ®Google Scholar
• Sáiz PA, García-Portilla MP, Arango C, Morales B, Arias B, Corcoran P, et al. Genetic polymorphisms in the dopamine-2 receptor (DRD2), dopamine-3 receptor (DRD3), and dopamine transporter (SLC6A3) genes in schizophrenia: Data from an association study. Prog Neuropsychopharmacol Biol Psychiatry 2010;34:26–31.
   PubMed Web of Science ®Google Scholar
• Greenwood TA, Alexander M, Keck PE, McElroy S, Sadovnick AD, Remick RA, et al. Evidence for linkage disequilibrium between the dopamine transporter and bipolar disorder. Am J Med Genet 2001;105:145–51.
   PubMed Web of Science ®Google Scholar
• Kelsoe JR, Sadovnick AD, Kristbjarnarson H, Bergesch P, Mroczkowski-Parker Z, Drennan M, et al. Possible locus for bipolar disorder near the dopamine transporter on chromosome 5. Am J Med Genet 1996;67:533–40.
   PubMed Web of Science ®Google Scholar
• MacDonald JR, Ziman R, Yuen RKC, Feuk L, Scherer SW. The Database of Genomic Variants: a curated collection of structural variation in the human genome. Nucleic Acids Res 2014;42:D986–92.
   PubMed Web of Science ®Google Scholar
• Mednick SA, Parnas J, Schulsinger F. The Copenhagen High-Risk Project, 1962–86. Schizophr Bull 1987;13:485–95.
   PubMed Web of Science ®Google Scholar
• Jørgensen A, Teasdale TW, Parnas J, Schulsinger F, Schulsinger H, Mednick SA. The Copenhagen High-Risk Project. The diagnosis of maternal schizophrenia and its relation to offspring diagnosis. Br J Psychiatry 1987;151:753–7.
   PubMed Web of Science ®Google Scholar
• Parnas J. Assortative mating in schizophrenia: Results from the Copenhagen High-Risk Study. Psychiatry 1988;51:58–64.
   PubMed Web of Science ®Google Scholar
• Wang K, Li M, Hadley D, Liu R, Glessner J, Grant SFA, et al. PennCNV: An integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data. Genome Res 2007;17:1665–74.
   PubMed Web of Science ®Google Scholar
• Djurovic S, Gustafsson O, Mattingsdal M, Athanasiu L, Bjella T, Tesli M, et al. A genome-wide association study of bipolar disorder in Norwegian individuals, followed by replication in Icelandic sample. J Affect Disord 2010;126:312–16.
   PubMed Web of Science ®Google Scholar
• Korn JM, Kuruvilla FG, McCarroll SA, Wysoker A, Nemesh J, Cawley S, et al. Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs. Nat Genet 2008;40:1253–60.
   PubMed Web of Science ®Google Scholar
• Grayton HM, Fernandes C, Rujescu D, Collier DA. Copy number variations in neurodevelopmental disorders. Prog Neurobiol 2012;99:81–91.
   PubMed Web of Science ®Google Scholar