TCF4 sequence variants and mRNA levels are associated with neurodevelopmental characteristics in psychotic disorders

Translational Psychiatry

Volumn 2, Issue , 2012, Pages

  Wirgenes, K V ^a,b   Sonderby I E ^b   Haukvik, U K ^a,c   Mattingsdal, M ^a   Tesli, M ^a,b   Athanasiu, L ^a,b   Sundet, K ^a,b   Rossberg J I ^a,b   Dale, A M ^d,e   Brown, A A ^a   Agartz, I ^a,c   Melle, I ^a,b   Djurovic, S ^a,b   Andreassen, O A ^a,b  

^a UNIVERSITY OF OSLO   (Norway)

^b ULLEVÅL UNIVERSITY HOSPITAL   (Norway)

^c DIAKONHJEMMET HOSPITAL   (Norway)

^d UNIVERSITY OF CALIFORNIA   (United States)

^e UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

bipolar disorder; mRNA; neurodevelopment; psychotic phenotypes; schizophrenia; transcription factor 4

Indexed keywords

ANTICONVULSIVE AGENT; ANTIDEPRESSANT AGENT; LITHIUM; MESSENGER RNA; NEUROLEPTIC AGENT; SEDATIVE AGENT; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR 4; UNCLASSIFIED DRUG; BASIC HELIX LOOP HELIX LEUCINE ZIPPER TRANSCRIPTION FACTOR; TCF4 PROTEIN, HUMAN;

ADULT; ARTICLE; BIOLOGICAL TRAIT; COGNITION; COGNITIVE DEFECT; CONTROLLED STUDY; CORRELATION ANALYSIS; DISEASE SEVERITY; EXECUTIVE FUNCTION; FEMALE; FLUENCY DISORDER; GENE EXPRESSION PROFILING; GENE EXPRESSION REGULATION; GENE FUNCTION; GENE SEQUENCE; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HUMAN; LEARNING DISORDER; MAJOR CLINICAL STUDY; MALE; MORPHOMETRICS; NERVOUS SYSTEM DEVELOPMENT; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PHENOTYPE; PSYCHOSIS; RISK ASSESSMENT; SCHIZOPHRENIA; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; SYMPTOMATOLOGY; AFFECTIVE PSYCHOSIS; ALLELE; BRAIN; DNA SEQUENCE; GENE LINKAGE DISEQUILIBRIUM; GENETICS; MIDDLE AGED; NEUROPSYCHOLOGICAL TEST; PATHOLOGY; PSYCHOLOGICAL ASPECT; PSYCHOLOGY; PSYCHOMETRY;

ADULT; AFFECTIVE DISORDERS, PSYCHOTIC; ALLELES; BASIC HELIX-LOOP-HELIX LEUCINE ZIPPER TRANSCRIPTION FACTORS; BRAIN; FEMALE; GENETIC VARIATION; HUMANS; LINKAGE DISEQUILIBRIUM; MALE; MIDDLE AGED; NEUROPSYCHOLOGICAL TESTS; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; PSYCHOMETRICS; PSYCHOTIC DISORDERS; RNA, MESSENGER; SCHIZOPHRENIA; SCHIZOPHRENIC PSYCHOLOGY; SEQUENCE ANALYSIS, DNA; TRANSCRIPTION FACTORS;

EID: 84861125947     PISSN: None     EISSN: 21583188     Source Type: Journal    
DOI: 10.1038/tp.2012.39     Document Type: Article

References (68)

1. Cichon S, Craddock N, Daly M, Faraone SV, Gejman PV, Kelsoe J et al. Genomewide association studies: history, rationale, and prospects for psychiatric disorders. Am J Psychiatry 2009;166:540-556.
2. Sklar P, Ripke S, Scott LJ, Andreassen OA, Cichon S, Craddock N et al. Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4. Nat Genet 2011;43:977-983.
3. Purcell SM, Wray NR, Stone JL, Visscher PM, O'Donovan MC, Sullivan PF et al. Common polygenic variation contributes to risk of schizophrenia and bipolar disorder. Nature 2009;460:748-752.
4. Stefansson H, Ophoff RA, Steinberg S, Andreassen OA, Cichon S, Rujescu D et al. Common variants conferring risk of schizophrenia. Nature 2009;460:744-747.
5. Ripke S, Sanders AR, Kendler KS, Levinson DF, Sklar P, Holmans PA et al. Genome-wide association study identifies five new schizophrenia loci. Nat Genet 2011;43:969-976.
6. Li T, Li Z, Chen P, Zhao Q, Wang T, Huang K et al. Common variants in major histocompatibility complex region and TCF4 gene are significantly associated with schizophrenia in Han Chinese. Biol Psychiatry 2010;68:671-673.
7. Steinberg S, de JS, Andreassen OA, Werge T, Borglum AD, Mors O et al. Common variants at VRK2 and TCF4 conferring risk of schizophrenia. Hum Mol Genet 2011;20:4076-4081.
8. Del-Favero J, Gestel SV, Borglum AD, Muir W, Ewald H, Mors O et al. European combined analysis of the CTG18.1 and the ERDA1 CAG/CTG repeats in bipolar disorder. Eur J Hum Genet 2002;10:276-280. (Pubitemid 34662097)
9. Lichtenstein P, Yip BH, Bjork C, Pawitan Y, Cannon TD, Sullivan PF et al. Common genetic determinants of schizophrenia and bipolar disorder in Swedish families: a populationbased study. Lancet 2009;373:234-239.
10. Williams HJ, Craddock N, Russo G, Hamshere ML, Moskvina V, Dwyer S et al. Most genome-wide significant susceptibility loci for schizophrenia and bipolar disorder reported to date cross-traditional diagnostic boundaries. Hum Mol Genet 2011;20:387-391.
11. Simonsen C, Sundet K, Vaskinn A, Birkenaes AB, Engh JA, Faerden A et al. Neurocognitive dysfunction in bipolar and schizophrenia spectrum disorders depends on history of psychosis rather than diagnostic group. Schizophr Bull 2011;37:73-83.
12. Giurgea I, Missirian C, Cacciagli P, Whalen S, Fredriksen T, Gaillon T et al. TCF4 deletions in Pitt-Hopkins Syndrome. Hum Mutat 2008;29:E242-E251.
13. Blake DJ, Forrest M, Chapman RM, Tinsley CL, O'Donovan MC, Owen MJ. TCF4, schizophrenia, and Pitt-Hopkins Syndrome. Schizophr Bull 2010;36:443-447.
14. de Pontual L, Mathieu Y, Golzio C, Rio M, Malan V, Boddaert N et al. Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome. Hum Mutat 2009;30:669-676.
15. Flora A, Garcia JJ, Thaller C, Zoghbi HY. The E-protein Tcf4 interacts with Math1 to regulate differentiation of a specific subset of neuronal progenitors. Proc Natl Acad Sci USA 2007;104:15382-15387. (Pubitemid 47502926)
16. Brzozka MM, Radyushkin K, Wichert SP, Ehrenreich H, Rossner MJ. Cognitive and sensorimotor gating impairments in transgenic mice overexpressing the schizophrenia susceptibility gene Tcf4 in the brain. Biol Psychiatry 2010;68:33-40.
17. Fatemi SH, Folsom TD. The neurodevelopmental hypothesis of schizophrenia, revisited. Schizophr Bull 2009;35:528-548.
18. Arnold SE, Talbot K, Hahn CG. Neurodevelopment, neuroplasticity, and new genes for schizophrenia. Prog Brain Res 2005;147:319-345.
19. Harrison PJ, Weinberger DR. Schizophrenia genes, gene expression, and neuropathology: on the matter of their convergence. Mol Psychiatry 2005;10:40-68. (Pubitemid 40139588)
20. Spitzer RL, Williams JB, Kroenke K, Linzer M, deGruy III FV, Hahn SR et al. Utility of a new procedure for diagnosing mental disorders in primary care. The PRIME-MD 1000 study. JAMA 1994;272:1749-1756. (Pubitemid 24372002)
21. Simonsen C, Sundet K, Vaskinn A, Birkenaes AB, Engh JA, Faerden A et al. Neurocognitive dysfunction in bipolar and schizophrenia spectrum disorders depends on history of psychosis rather than diagnostic group. Schizophr Bull 2009;37:73-83.
22. Birkenaes AB, Opjordsmoen S, Brunborg C, Engh JA, Jonsdottir H, Ringen PA et al. The level of cardiovascular risk factors in bipolar disorder equals that of schizophrenia: a comparative study. J Clin Psychiatry 2007;68:917-923. (Pubitemid 47015492)
23. Spitzer RL, Williams JB, Gibbon M, First MB. The Structured Clinical Interview for DSM-III-R (SCID). I: History, rationale, and description. Arch Gen Psychiatry 1992;49:624-629.
24. Kay SR, Fiszbein A, Opler LA. The positive and negative syndrome scale (PANSS) for schizophrenia. Schizophr Bull 1987;13:261-276. (Pubitemid 18039085)
25. Pedersen G, Hagtvet KA, Karterud S. Generalizability studies of the Global Assessment of Functioning-Split version. Compr Psychiatry 2007;48:88-94. (Pubitemid 44826972)
26. Wechsler D, Wycherley RJ, Benjamin L. Wechsler Memory Scale: WMS-III. Stockholm, Sweden: Pearson Assessment, 2008.
27. Wechsler D. Wechsler Adult Intelligence Scale: WAIS-III. Stockholm, Sweden: Pearson Assessment, 2003.
28. Delis DC, Kaplan E, Kramer JH. The Delis-Kaplan Executive Function System: D-KEFS. Stockholm, Sweden: Pearson Assessment, 2005.
29. Delis DC, Kramer JH, Kaplan E, Ober BA. California Verbal Learning Test: CVLT-II. Stockholm, Sweden: Pearson Assessment, 2004.
30. Rimol LM, Hartberg CB, Nesvag R, Fennema-Notestine C, Hagler Jr DJ, Pung CJ et al. Cortical thickness and subcortical volumes in schizophrenia and bipolar disorder. Biol Psychiatry 2010;68:41-50.
31. Fennema-Notestine C, Gamst AC, Quinn BT, Pacheco J, Jernigan TL, Thal L et al. Feasibility of multi-site clinical structural neuroimaging studies of aging using legacy data. Neuroinformatics 2007;5:235-245.
32. Fischl B, Salat DH, Busa E, Albert M, Dieterich M, Haselgrove C et al. Whole brain segmentation: automated labeling of neuroanatomical structures in the human brain. Neuron 2002;33:341-355. (Pubitemid 34162530)
33. Dale AM, Fischl B, Sereno MI. Cortical surface-based analysis. I. Segmentation and surface reconstruction. Neuroimage 1999;9:179-194. (Pubitemid 29369874)
34. Fischl B, Sereno MI, Dale AM. Cortical surface-based analysis. II: Inflation, flattening, and a surface-based coordinate system. Neuroimage 1999;9:195-207. (Pubitemid 29369875)
35. Agartz I, Brown AA, Rimol LM, Hartberg CB, Dale AM, Melle I et al. Common sequence variants in the major histocompatibility complex region associate with cerebral ventricular size in schizophrenia. Biol Psychiatry 2011;70:696-698.
36. Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, Bender D et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 2007;81:559-575. (Pubitemid 47330214)
37. Howie BN, Donnelly P, Marchini J. A flexible and accurate genotype imputation method for the next generation of genome-wide association studies. PLoS Genet 2009;5:e1000529.
38. Gabriel SB, Schaffner SF, Nguyen H, Moore JM, Roy J, Blumenstiel B et al. The structure of haplotype blocks in the human genome. Science 2002;296:2225-2229. (Pubitemid 34680308)
39. Kurian SM, Le-Niculescu H, Patel SD, Bertram D, Davis J, Dike C et al. Identification of blood biomarkers for psychosis using convergent functional genomics. Mol Psychiatry 2011;16:37-58.
40. Shaffer JP. Multiple hypothesis testing. Annu Rev Psychol 1995;46:561-584.
41. Antonova E, Sharma T, Morris R, Kumari V. The relationship between brain structure and neurocognition in schizophrenia: a selective review. Schizophr Res 2004;70:117-145. (Pubitemid 39141094)
42. Shenton ME, Dickey CC, Frumin M, McCarley RW. A review of MRI findings in schizophrenia. Schizophr Res 2001;49:1-52. (Pubitemid 32451739)
43. Arnone D, Cavanagh J, Gerber D, Lawrie SM, Ebmeier KP, McIntosh AM. Magnetic resonance imaging studies in bipolar disorder and schizophrenia: meta-analysis. Br J Psychiatry 2009;195:194-201.
44. Amiel J, Rio M, de PL, Redon R, Malan V, Boddaert N et al. Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction. Am J Hum Genet 2007;80:988-993. (Pubitemid 46668468)
45. Brinkmeier ML, Potok MA, Davis SW, Camper SA. TCF4 deficiency expands ventral diencephalon signaling and increases induction of pituitary progenitors. Dev Biol 2007;311:396-407. (Pubitemid 350064370)
46. Korinek V, Barker N, Willert K, Molenaar M, Roose J, Wagenaar G et al. Two members of the Tcf family implicated in Wnt/beta-catenin signaling during embryogenesis in the mouse. Mol Cell Biol 1998;18:1248-1256. (Pubitemid 28100888)
47. Rimol LM, Agartz I, Djurovic S, Brown AA, Roddey JC, Kahler AK et al. Sex-dependent association of common variants of microcephaly genes with brain structure. Proc Natl Acad Sci USA 2010;107:384-388.
48. Kaindl AM, Passemard S, Kumar P, Kraemer N, Issa L, Zwirner A et al. Many roads lead to primary autosomal recessive microcephaly. Prog Neurobiol 2010;90:363-383.
49. Kirkpatrick B, Buchanan RW, Ross DE, Carpenter WT, Jr. A separate disease within the syndrome of schizophrenia. Arch Gen Psychiatry 2001;58:165-171. (Pubitemid 32142754)
50. Crow TJ. Molecular pathology of schizophrenia: more than one disease process? Br Med J 1980;280:66-68. (Pubitemid 10199277)
51. Marangi G, Ricciardi S, Orteschi D, Lattante S, Murdolo M, Dallapiccola B et al. The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria. Am J Med Genet A 2011;155 A: 1536-1545.
52. Emsley R, Chiliza B, Schoeman R. Predictors of long-term outcome in schizophrenia. Curr Opin Psychiatry 2008;21:173-177. (Pubitemid 351339873)
53. Sullivan PF, Fan C, Perou CM. Evaluating the comparability of gene expression in blood and brain. Am J Med Genet B Neuropsychiatr Genet 2006;141 B: 261-268.
54. Mudge J, Miller NA, Khrebtukova I, Lindquist IE, May GD, Huntley JJ et al. Genomic convergence analysis of schizophrenia: mRNA sequencing reveals altered synaptic vesicular transport in post-mortem cerebellum. PLoS One 2008;3:e3625.
55. Bowden NA, Weidenhofer J, Scott RJ, Schall U, Todd J, Michie PT et al. Preliminary investigation of gene expression profiles in peripheral blood lymphocytes in schizophrenia. Schizophr Res 2006;82:175-183. (Pubitemid 43290681)
56. Glatt SJ, Everall IP, Kremen WS, Corbeil J, Sasik R, Khanlou N et al. Comparative gene expression analysis of blood and brain provides concurrent validation of SELENBP1 up-regulation in schizophrenia. Proc Natl Acad Sci USA 2005;102:15533-15538. (Pubitemid 41528092)
57. Kakiuchi C, Ishiwata M, Nanko S, Ozaki N, Iwata N, Umekage T et al. Up-regulation of ADM and SEPX1 in the lymphoblastoid cells of patients in monozygotic twins discordant for schizophrenia. Am J Med Genet B Neuropsychiatr Genet 2008;147 B: 557-564. (Pubitemid 351961657)
58. Kuzman MR, Medved V, Terzic J, Krainc D. Genome-wide expression analysis of peripheral blood identifies candidate biomarkers for schizophrenia. J Psychiatr Res 2009;43:1073-1077.
59. Middleton FA, Pato CN, Gentile KL, McGann L, Brown AM, Trauzzi M et al. Gene expression analysis of peripheral blood leukocytes from discordant sib-pairs with schizophrenia and bipolar disorder reveals points of convergence between genetic and functional genomic approaches. Am J Med Genet B Neuropsychiatr Genet 2005;136 B: 12-25. (Pubitemid 40917523)
60. Numata S, Ueno S, Iga J, Yamauchi K, Hongwei S, Hashimoto R et al. Gene expression in the peripheral leukocytes and association analysis of PDLIM5 gene in schizophrenia. Neurosci Lett 2007;415:28-33. (Pubitemid 46371342)
61. Tsuang MT, Nossova N, Yager T, Tsuang MM, Guo SC, Shyu KG et al. Assessing the validity of blood-based gene expression profiles for the classification of schizophrenia and bipolar disorder: a preliminary report. Am J Med Genet B Neuropsychiatr Genet 2005;133 B: 1-5. (Pubitemid 40175606)
62. Vawter MP, Ferran E, Galke B, Cooper K, Bunney WE, Byerley W. Microarray screening of lymphocyte gene expression differences in a multiplex schizophrenia pedigree. Schizophr Res 2004;67:41-52. (Pubitemid 38117090)
63. Zvara A, Szekeres G, Janka Z, Kelemen JZ, Cimmer C, Santha M et al. Over-expression of dopamine D2 receptor and inwardly rectifying potassium channel genes in drug-naive schizophrenic peripheral blood lymphocytes as potential diagnostic markers. Dis Markers 2005;21:61-69. (Pubitemid 40875149)
64. Achiron A, Gurevich M. Peripheral blood gene expression signature mirrors central nervous system disease: the model of multiple sclerosis. Autoimmun Rev 2006;5:517-522. (Pubitemid 44486947)
65. Williams HJ, Moskvina V, Smith RL, Dwyer S, Russo G, Owen MJ et al. Association between TCF4 and schizophrenia does not exert its effect by common nonsynonymous variation or by influencing cis-acting regulation of mRNA expression in adult human brain. Am J Med Genet B Neuropsychiatr Genet 2011;156:781-784.
66. Buonocore F, Hill MJ, Campbell CD, Oladimeji PB, Jeffries AR, Troakes C et al. Effects of cis-regulatory variation differ across regions of the adult human brain. Hum Mol Genet 2010;19:4490-4496.
67. Colantuoni C, Lipska BK, Ye T, Hyde TM, Tao R, Leek JT et al. Temporal dynamics and genetic control of transcription in the human prefrontal cortex. Nature 2011;478:519-523.
68. Cho EA, Dressler GR. TCF-4 binds beta-catenin and is expressed in distinct regions of the embryonic brain and limbs. Mech Dev 1998;77:9-18. (Pubitemid 28508980)