Genetic evidence for the association between the early growth response 3 (EGR3) gene and schizophrenia

PLoS ONE

Volumn 7, Issue 1, 2012, Pages

  Zhang, Rui ^a   Lu, Shemin ^a   Meng, Liesu ^a   Min, Zixin ^a   Tian, Juan ^a   Valenzuela, Robert K ^b   Guo, Tingwei ^c   Tian, Lifang ^a   Zhao, Wenxiang ^a   Ma, Jie ^a  

^a MEDICAL SCHOOL OF XI AN JIAOTONG UNIVERSITY   (China)

^b UNIVERSITY OF ARIZONA   (United States)

^c ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EARLY GROWTH RESPONSE FACTOR 3; EGR3 PROTEIN, HUMAN;

ADOLESCENT; ADULT; ARTICLE; CASE CONTROL STUDY; CHINESE; CHROMOSOME ANALYSIS; CONTROLLED STUDY; EGR3 GENE; FEMALE; GENE FREQUENCY; GENE FUNCTION; GENE PRODUCT; GENETIC ASSOCIATION; GENOTYPE; HAPLOTYPE; HUMAN; INTRON; MAJOR CLINICAL STUDY; MALE; SCHIZOPHRENIA; SINGLE NUCLEOTIDE POLYMORPHISM; ASIAN; GENETIC PREDISPOSITION; GENETICS; MIDDLE AGED;

ADOLESCENT; ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; EARLY GROWTH RESPONSE PROTEIN 3; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HAPLOTYPES; HUMANS; MALE; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; SCHIZOPHRENIA; YOUNG ADULT;

EID: 84856061141     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0030237     Document Type: Article

References (61)

1. Purcell SM, Wray NR, Stone JL, Visscher PM, O'Donovan MC, et al. (2009) Common polygenic variation contributes to risk of schizophrenia and bipolar disorder. Nature 460: 748-752.
2. Riley B, Thiselton D, Maher BS, Bigdeli T, Wormley B, et al. (2009) Replication of association between schizophrenia and ZNF804A in the Irish Case-Control Study of Schizophrenia sample. Mol Psychiatry 15: 29-37.
3. Badner JA, Gershon ES, (2002) Meta-analysis of whole-genome linkage scans of bipolar disorder and schizophrenia. Mol Psychiatry 7: 405-411.
4. Lewis CM, Levinson DF, Wise LH, DeLisi LE, Straub RE, et al. (2003) Genome scan meta-analysis of schizophrenia and bipolar disorder, part II: Schizophrenia. Am J Hum Genet 73: 34-48.
5. Suarez BK, Duan J, Sanders AR, Hinrichs AL, Jin CH, et al. (2006) Genomewide linkage scan of 409 European-ancestry and African American families with schizophrenia: suggestive evidence of linkage at 8p23.3-p21.2 and 11p13.1-q14.1 in the combined sample. Am J Hum Genet 78: 315-333.
6. Stefansson H, Sigurdsson E, Steinthorsdottir V, Bjornsdottir S, Sigmundsson T, et al. (2002) Neuregulin 1 and susceptibility to schizophrenia. Am J Hum Genet 71: 877-892.
7. Gerber DJ, Hall D, Miyakawa T, Demars S, Gogos JA, et al. (2003) Evidence for association of schizophrenia with genetic variation in the 8p21.3 gene, PPP3CC, encoding the calcineurin gamma subunit. Proc Natl Acad Sci USA 100: 8993-8998.
8. Yamada K, Gerber DJ, Iwayama Y, Ohnishi T, Ohba H, et al. (2007) Genetic analysis of the calcineurin pathway identifies members of the EGR gene family, specifically EGR3, as potential susceptibility candidates in schizophrenia. Proc Natl Acad Sci USA 104: 2815-2820.
9. Lohoff FW, Weller AE, Bloch PJ, Buono RJ, Doyle GA, et al. (2008) Association between polymorphisms in the vesicular monoamine transporter 1 gene (VMAT1/SLC18A1) on chromosome 8p and schizophrenia. Neuropsychobiology 57: 55-60.
10. Tabares-Seisdedos R, Rubenstein JL, (2009) Chromosome 8p as a potential hub for developmental neuropsychiatric disorders: implications for schizophrenia, autism and cancer. Mol Psychiatry 14: 563-589.
11. Kim SH, Song JY, Joo EJ, Lee KY, Ahn YM, et al. (2010) EGR3 as a potential susceptibility gene for schizophrenia in Korea. Am J Med Genet B Neuropsychiatr Genet 153B: 1355-1360.
12. Lee SM, Vasishtha M, Prywes R, (2010) Activation and repression of cellular immediate early genes by serum response factor cofactors. J Biol Chem 285: 22036-22049.
13. O'Donovan KJ, Tourtellotte WG, Millbrandt J, Baraban JM, (1999) The EGR family of transcription-regulatory factors: progress at the interface of molecular and systems neuroscience. Trends Neurosci 22: 167-173.
14. O'Donovan KJ, Levkovitz Y, Ahn D, Baraban JM, (2000) Functional comparison of Egr3 transcription factor isoforms: identification of an activation domain in the N-terminal segment absent from Egr3beta, a major isoform expressed in brain. J Neurochem 75: 1352-1357.
15. Li L, Yun SH, Keblesh J, Trommer BL, Xiong H, et al. (2007) Egr3, a synaptic activity regulated transcription factor that is essential for learning and memory. Mol Cell Neurosci 35: 76-88.
16. Gallitano-Mendel A, Izumi Y, Tokuda K, Zorumski CF, Howell MP, et al. (2007) The immediate early gene early growth response gene 3 mediates adaptation to stress and novelty. Neuroscience 148: 633-643.
17. Mexal S, Frank M, Berger R, Adams CE, Ross RG, et al. (2005) Differential modulation of gene expression in the NMDA postsynaptic density of schizophrenic and control smokers. Brain Res Mol Brain Res 139: 317-332.
18. Liu BC, Zhang J, Wang L, Li XW, Wang Y, et al. (2010) No association between EGR gene family polymorphisms and schizophrenia in the Chinese population. Prog Neuropsychopharmacol Biol Psychiatry 34: 506-509.
19. Kyogoku C, Yanagi M, Nishimura K, Sugiyama D, Morinobu A, et al. (2011) Association of calcineurin A gamma subunit (PPP3CC) and early growth response 3 (EGR3) gene polymorphisms with susceptibility to schizophrenia in a Japanese population. Psychiatry Res 185: 16-19.
20. Lohmueller KE, Pearce CL, Pike M, Lander ES, Hirschhorn JN, (2003) Meta-analysis of genetic association studies supports a contribution of common variants to susceptibility to common disease. Nat Genet 33: 177-182.
21. Sham PC, MacLean CJ, Kendler KS, (1994) A typological model of schizophrenia based on age at onset, sex and familial morbidity. Acta Psychiatr Scand 89: 135-141.
22. Zhang F, Chen Q, Ye T, Lipska BK, Straub RE, et al. (2011) Evidence of sex-modulated association of ZNF804A with schizophrenia. Biol Psychiatry 69: 914-917.
23. Shi J, Levinson DF, Duan J, Sanders AR, Zheng Y, et al. (2009) Common variants on chromosome 6p22.1 are associated with schizophrenia. Nature 460: 753-757.
24. Yamada K, Iwayama Y, Hattori E, Iwamoto K, Toyota T, et al. (2011) Genome-wide association study of schizophrenia in Japanese population. PLoS One 6: e20468.
25. Ma X, Deng W, Liu X, Li M, Chen Z, et al. (2011) A genome-wide association study for quantitative traits in schizophrenia in China. Genes Brain Behav.
26. Mansour HA, Talkowski ME, Wood J, Chowdari KV, McClain L, et al. (2009) Association study of 21 circadian genes with bipolar I disorder, schizoaffective disorder, and schizophrenia. Bipolar Disord 11: 701-710.
27. Bian L, Yang JD, Guo TW, Duan Y, Qin W, et al. (2005) Association study of the A2M and LRP1 Genes with Alzheimer disease in the Han Chinese. Biol Psychiatry 58: 731-737.
28. Lewis CM, (2002) Genetic association studies: design, analysis and interpretation. Brief Bioinform 3: 146-153.
29. Zhang R, Zhong NN, Liu XG, Yan H, Qiu C, et al. (2010) Is the EFNB2 locus associated with schizophrenia? Single nucleotide polymorphisms and haplotypes analysis. Psychiatry Res 180: 5-9.
30. Nieratschker V, Nothen MM, Rietschel M, (2010) New Genetic Findings in Schizophrenia: Is there Still Room for the Dopamine Hypothesis of Schizophrenia? Front Behav Neurosci 4: 23.
31. Ma J, Qin W, Wang XY, Guo TW, Bian L, et al. (2006) Further evidence for the association between G72/G30 genes and schizophrenia in two ethnically distinct populations. Mol Psychiatry 11: 479-487.
32. Gallitano-Mendel A, Wozniak DF, Pehek EA, Milbrandt J, (2008) Mice lacking the immediate early gene Egr3 respond to the anti-aggressive effects of clozapine yet are relatively resistant to its sedating effects. Neuropsychopharmacology 33: 1266-1275.
33. Yamagata K, Kaufmann WE, Lanahan A, Papapavlou M, Barnes CA, et al. (1994) Egr3/Pilot, a zinc finger transcription factor, is rapidly regulated by activity in brain neurons and colocalizes with Egr1/zif268. Learn Mem 1: 140-152.
34. Lau CG, Zukin RS, (2007) NMDA receptor trafficking in synaptic plasticity and neuropsychiatric disorders. Nat Rev Neurosci 8: 413-426.
35. Olney JW, Newcomer JW, Farber NB, (1999) NMDA receptor hypofunction model of schizophrenia. J Psychiatr Res 33: 523-533.
36. du Bois TM, Huang XF, (2007) Early brain development disruption from NMDA receptor hypofunction: relevance to schizophrenia. Brain Res Rev 53: 260-270.
37. Mittelstadt PR, Ashwell JD, (1998) Cyclosporin A-sensitive transcription factor Egr-3 regulates Fas ligand expression. Mol Cell Biol 18: 3744-3751.
38. Hildeman DA, Mitchell T, Kappler J, Marrack P, (2003) T cell apoptosis and reactive oxygen species. J Clin Invest 111: 575-581.
39. Droin NM, Pinkoski MJ, Dejardin E, Green DR, (2003) Egr family members regulate nonlymphoid expression of Fas ligand, TRAIL, and tumor necrosis factor during immune responses. Mol Cell Biol 23: 7638-7647.
40. Rusnak F, Mertz P, (2000) Calcineurin: form and function. Physiol Rev 80: 1483-1521.
41. Miyakawa T, Leiter LM, Gerber DJ, Gainetdinov RR, Sotnikova TD, et al. (2003) Conditional calcineurin knockout mice exhibit multiple abnormal behaviors related to schizophrenia. Proc Natl Acad Sci USA 100: 8987-8992.
42. Sheng M, Kim MJ, (2002) Postsynaptic signaling and plasticity mechanisms. Science 298: 776-780.
43. Roberts DS, Hu Y, Lund IV, Brooks-Kayal AR, Russek SJ, (2006) Brain-derived neurotrophic factor (BDNF)-induced synthesis of early growth response factor 3 (Egr3) controls the levels of type A GABA receptor alpha 4 subunits in hippocampal neurons. J Biol Chem 281: 29431-29435.
44. Hippenmeyer S, Shneider NA, Birchmeier C, Burden SJ, Jessell TM, et al. (2002) A role for neuregulin1 signaling in muscle spindle differentiation. Neuron 36: 1035-1049.
45. Jacobson C, Duggan D, Fischbach G, (2004) Neuregulin induces the expression of transcription factors and myosin heavy chains typical of muscle spindles in cultured human muscle. Proc Natl Acad Sci USA 101: 12218-12223.
46. Ashe PC, Berry MD, Boulton AA, (2001) Schizophrenia, a neurodegenerative disorder with neurodevelopmental antecedents. Prog Neuropsychopharmacol Biol Psychiatry 25: 691-707.
47. Wong J, Hyde TM, Cassano HL, Deep-Soboslay A, Kleinman JE, et al. (2009) Promoter specific alterations of brain-derived neurotrophic factor mRNA in schizophrenia. Neuroscience 169: 1071-1084.
48. Alaerts M, Ceulemans S, Forero D, Moens LN, De Zutter S, et al. (2009) Support for NRG1 as a susceptibility factor for schizophrenia in a northern Swedish isolated population. Arch Gen Psychiatry 66: 828-837.
49. Stefansson H, Sarginson J, Kong A, Yates P, Steinthorsdottir V, et al. (2003) Association of neuregulin 1 with schizophrenia confirmed in a Scottish population. Am J Hum Genet 72: 83-87.
50. Roberts DS, Raol YH, Bandyopadhyay S, Lund IV, Budreck EC, et al. (2005) Egr3 stimulation of GABRA4 promoter activity as a mechanism for seizure-induced up-regulation of GABA(A) receptor alpha4 subunit expression. Proc Natl Acad Sci USA 102: 11894-11899.
51. Hashimoto T, Bazmi HH, Mirnics K, Wu Q, Sampson AR, et al. (2008) Conserved regional patterns of GABA-related transcript expression in the neocortex of subjects with schizophrenia. Am J Psychiatry 165: 479-489.
52. Bartel DP, (2004) MicroRNAs: genomics, biogenesis, mechanism, and function. Cell 116: 281-297.
53. Bartel DP, (2009) MicroRNAs: target recognition and regulatory functions. Cell 136: 215-233.
54. Beveridge NJ, Gardiner E, Carroll AP, Tooney PA, Cairns MJ, (2009) Schizophrenia is associated with an increase in cortical microRNA biogenesis. Mol Psychiatry 15: 1176-1189.
55. Guo AY, Sun J, Jia P, Zhao Z, (2010) A novel microRNA and transcription factor mediated regulatory network in schizophrenia. BMC Syst Biol 4: 10.
56. O'Donovan MC, Craddock N, Norton N, Williams H, Peirce T, et al. (2008) Identification of loci associated with schizophrenia by genome-wide association and follow-up. Nat Genet 40: 1053-1055.
57. Zhang R, Lu SM, Qiu C, Liu XG, Gao CG, et al. (2011) Population-based and family-based association studies of ZNF804A locus and schizophrenia. Mol Psychiatry 16: 360-361.
58. Wang X, He G, Gu N, Yang J, Tang J, et al. (2004) Association of G72/G30 with schizophrenia in the Chinese population. Biochem Biophys Res Commun 319: 1281-1286.
59. Barrett JC, Fry B, Maller J, Daly MJ, (2005) Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 21: 263-265.
60. Stephens M, Smith NJ, Donnelly P, (2001) A new statistical method for haplotype reconstruction from population data. Am J Hum Genet 68: 978-989.
61. 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.