Données génétiques de la schizophrénie - Psychologie - M. Fouchey

More documents

Recommendations

Info

37-285-A-16 Données génétiques de la schizophrénie [2] D’Amato T. Épidémiologie génétique. In: Thibaut F, editor. Génétique de la schizophrénie. Paris: John Libbey Eurotext; 2003. p. 29-54. [3] Gottesman I, Shields J. Schizophrenia: the epigenetic puzzle. Cambridge: Cambridge University Press; 1982. [4] Maier W, Lichtermann D, Franke P, Heun R, Falkai P, Rietschel M. The dichotomy of schizophrenia and affective disorders in extended pedigrees. Schizophr Res 2002;57:259-66. [5] Malaspina D. Paternal factors and schizophrenia risk: de novo mutations and imprinting. Schizophr Bull 2001;27:379-93. [6] Gershon ES, Cloninger RC. Genetic approaches to mental disorders. Washington DC: American Psychiatric Press; 1994. [7] Ioannidis JP, Gwinn M, Little J, Higgins JP, Bernstein JL, Boffetta P, et al.Aroad map for efficient and reliable human genome epidemiology. Nat Genet 2006;38:3-5. [8] Delisi LE, Faraone SV. When is a ″positive″ association truly a ″positive″ in psychiatric genetics? A commentary based on issues debated at the World Congress of Psychiatric Genetics, Boston, October 12-18, 2005. Am J Med Genet B Neuropsychiatr Genet 2006;141: 319-22. [9] Campion D. Stratégies d’étude dans les maladies à hérédité complexe. In: Thibaut F, editor. Génétique de la schizophrénie. Paris: John Libbey Eurotext; 2003. p. 55-80. [10] Keen-Kim D, Mathews CA, Reus V, Lowe T, Herrera LD, Budman CL, et al. Overrepresentation of rare variants in specific ethnic groups may confuse interpretation of association analyses. Hum Mol Genet 2006; 15:3324-8. [11] Badner JA, Gershon ES. Meta-analysis of whole-genome linkage scans of bipolar disorder and schizophrenia. Mol Psychiatry 2002;7:405-11. [12] Lewis CM, Levinson DF, Wise LH, Delisi LE, Straub RE, Hovatta I, et al. Genome scan meta-analysis of schizophrenia and bipolar disorder, part II: schizophrenia. Am J Hum Genet 2003;73:34-48. [13] Williams NM, O’Donovan MC, Owen MJ. Is the dysbindin gene (DTNBP1) a susceptibility gene for schizophrenia? Schizophr Bull 2005;31:800-5. [14] Chumakov I, Blumenfeld M, Guerassimenko O, Cavarec L, Pallicio M, Abderrahim H, et al. Genetic and physiological data implicating the new human gene G72 and the gene for D-amino acid oxidase in schizophrenia. Proc Natl Acad Sci USA 2002;99:13675-80. [15] Detera-Wadleigh SD, McMahon FJ. G72/G30 in schizophrenia and bipolar disorder: Review and meta-analysis. Biol Psychiatry 2006;60: 106-14. [16] Hashimoto K, Fukushima T, Shimizu E, Komatsu N, Watanabe H, Shinoda N, et al. Decreased serum levels of D-serine in patients with schizophrenia. Arch Gen Psychiatry 2003;60:572-6. [17] Harrison PJ, Law A. Neuregulin 1 and schizophrenia: genetics, gene expression, and neurobiology. Biol Psychiatry 2006;60:132-40. [18] Chang-Gyu H, Hoau-Yan W, Dan-Sung C, Konrad T, Raquel EG, Wade HB, et al. Altered neuregulin 1-erbB4 signaling contributes to NMDA receptor hypofunction in schizophrenia. Nat Med 2006;12: 824-8. [19] Craddock N, O’Donovan MC, Owen MJ. Genes for schizophrenia and bipolar disorder? Implications for psychiatric nosology. Schizophr Bull 2006;32:9-16. [20] Talkowski M, Chowdari KV, Lewis DA, Nimgahonkar VL. Can RGS4 Polymorphisms be viewed as credible risk factors for schizophrenia?A critical review of the evidence. Schizophr Bull 2006;32:203-8. [21] Gogos JA, Gerber DJ. Schizophrenia susceptibility genes: emergence of positional candidates and future directions. Pharmacol Sci 2006;27: 226-31. [22] Bonnet-Brilhault F, Thibaut F, Petit M. Données biologiques de la schizophrénie. EMC (Elsevier Masson SAS, Paris), Psychiatrie, 37-285-A-17, 2001 : 11p. [23] Lohmueller KE, Pearce CL, Pike M, Lander ES, Hirschhorn JN. Metaanalysis of genetic association studies supports a contribution of common variants to susceptibility to common disease. Nat Genet 2003; 33:177-82. [24] Thibaut F. L’hypothèse neurodéveloppementale de la schizophrénie. In: Spadone C, editor. Les schizophrénies. Des avancées théoriques à la pratique clinique. Paris: édition Pil; 2004. p. 73-91. [25] Guillin O, Demily C, Thibaut F. Brain-derived neurotrophic factor in schizophrenia and its relation with dopamine. Int Rev Neurobiol 2007; 78:377-95. [26] Hariri AR, Goldberg TE, Mattay VS, Kolachana BS, Callicott JH, Egan MF, et al. Brain-derived neurotrophic factor val66met polymorphism affects human memory-related hippocampal activity and predicts memory performance. J Neurosci 2003;23:6690-4. [27] Thibaut F, Campion D, Laurent C, Bonnet-Brilhault F, Petit M. Mutations dynamiques de l’ADN, anticipation et schizophrénie. Encephale 1997;23:22-7. [28] Thibaut F, Martinez M, Petit M, Jay M, Campion D. Further evidence for anticipation in schizophrenia. Psychiatry Res 1995;59:25-33. [29] Di Maggio C, Martinez M, Ménard JF, Petit M, Thibaut F. Evidence of a cohort effect for age at onset of schizophrenia. Am J Psychiatry 2001; 158:489-92. [30] Petronis A, Kennedy JL. Unstable genes: unstable mind? Am J Psychiatry 1995;152:164-72. [31] Husted J, Scutt LE, Bassett AS. Paternal transmission and anticipation in schizophrenia. Am J Med Genet 1998;81:156-62. [32] Vincent JB, Kalsi G, KlempanT,TatuchY, Scherrington RP, BreschelT, et al. No evidence of expansion of CAG or GAA repeats in schizophrenia families and monozygotic twins. Hum Genet 1998;103: 41-7. [33] Haaf T, Sirugo G, Kidd K. Chromosomal localization of long trinucleotide repeats in the human genome by fluorescence in situ hybridization. Nat Genet 1996;12:183-5. [34] Sanpei K, Takano H, Igarashi S, Sato T, Oyake M, Sasaki H, et al. Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT. Nat Genet 1996;14:277-84. [35] Bonnet-Brilhault F, Laurent C, Campion D, Thibaut F, Lafargue C, Charbonnier F, et al. No evidence for involvement of KCNN3 (hSKCa3) potassium channel gene in familial and isolated cases of schizophrenia. Eur J Hum Genet 1999;7:247-50. [36] Margolis RL, Stine OC, McInnis MG, Ranen NG, Rubinsztein DC, Leggo J, et al. cDNA cloning of a human homologue of the C elegans cell fate-determining gene mab-21: expression, chromosomal localization and analysis of a highly polymorphic (CAG)n trinucleotide repeat. Hum Mol Genet 1996;5:607-16. [37] Thibaut F. Génétique de la schizophrénie. Paris: John Libbey Eurotext; 2003. [38] Gottesman II, Gould TD. The endophenotype concept in psychiatry: etymology and strategic intentions. Am J Psychiatry 2003;160:636-45. [39] Houy E, Thibaut F. Données électrophysiologiques dans la schizophrénie : onde P50 des potentiels évoqués auditifs. EMC (à paraître en 2007). [40] Faraone SV, Su J, Taylor L, Wilcox M. A novel permutation testing method implicates sixteen nicotinic acetylcholine receptor genes as risk factors for smoking in schizophrenia families. Hum Hered 2004;57: 59-68. [41] Leonard S, Adler LE, Benhammou K, Berger R, Breese CR, Drebing C, et al. Association of promoter variants in the alpha 7 nicotinic acetylcholine receptor subunit gene with an inhibitory deficit found in schizophrenia. Arch Gen Psychiatry 2002;59: 1085-96. [42] Raux G, Bonnet-Brilhault F, Louchart S, Houy E, Gantier R, Levillain D, et al. The-2 bp deletion in exon 6 of ″alpha 7-like″ nicotinic receptor subunit gene is a risk factor for the P50 sensory gating deficit. Mol Psychiatry 2002;7:1006-11. [43] Houy E, Raux G, Thibaut F, Belmont A, Demily C, Allio G, et al. The promoter-194 C polymorphism of the nicotinic alpha 7 receptor gene has a protective effect against the P50 sensory gating deficit. Mol Psychiatry 2004;9:320-2. [44] Leonard S, Freedman R. Genetics of chromosome 15q13-q14 in schizophrenia. Biol Psychiatry 2006;60:115-22. [45] Peuskens J, Demily C, Thibaut F. Treatment of cognitive dysfunction in schizophrenia. Clin Ther 2005;27(supplA):S25-S37. [46] Sitskoorn MM, Aleman A, Ebisch S, Appels M, Kahn R. Cognitive deficits in relatives of patients with schizophrenia: a meta-analysis. Schizophr Res 2004;71:285-95. [47] SzökeA, Schurhoff F, Mathieu F, MearyA, Ionescu S, Leboyer M. Test of executive functions in first-degree relatives of schizophrenic patients: a meta-analysis. Psychol Med 2005;35:771-82. [48] Gourion D, Goldberger C, Bourdel MC, Baylé FJ, Millet B, Olié JP, et al. Neurological soft signs and minor physical anomalies in schizophrenia: differential transmission within families. Schizophr Res 2003;63:181-7. [49] Matthysse S, Holzman PS, Gusella JF, Levy DL, Harte CB, Jorgensen A, et al. Linkage of eye movement dysfunction to chromosome 6p in schizophrenia: additional evidence. Am J Med Gent B Neuropsychiatr Genet 2004;128:30-6. 10 Psychiatrie
[50] Louchart-de la Chapelle S, Nkam I, Houy E, Belmont A, Ménard JF, RoussignolAC, et al.Aconcordance study of three electrophysiological measures in schizophrenia. Am J Psychiatry 2005;162:466-74. [51] Blackwood DH, Fordyce A, Walker MT, St Clair DM, Porteous DJ, Muir WJ. Schizophrenia and affective disorders – cosegregation with a translocation at chromosome 1q42 that directly disrupts brainexpressed genes: clinical and P300 findings in the family. Am J Hum Genet 2001;69:428-33. [52] Callicott JH, Straub RE, Pezawas L, Egan MF, Mattay VS, Hariri AR, et al. Variation in DISC1 affects hippocampal structure and function and increases risk for schizophrenia. Proc Natl Acad Sci USA 2005; 102:8627-32. [53] Kamiya A, Kubo K, Tomato T, Takaki M, Youn R, Ozeki Y, et al. A schizophrenia-associated mutation of DISC1 perturbs cerebral cortex development. Nat Cell Biol 2005;7:1167-78. [54] Porteous DJ, Thomson P, Bandon NJ, Millar JK. The genetics and biology of DISC1 – An emerging role in psychosis and cognition. Biol Psychiatry 2006;60:123-31. [55] Gogos JA, Morgan M, Luine V, Ogawa S, Pfaff D, Karayiourgou M. Catechol-O-methyltransferase-deficient mice exhibit sexually dimorphic changes in catecholamine levels and behaviour. Proc Natl Acad Sci USA 1998;95:9991-6. [56] Goldman-Rakic PS, Muly EC, Williams GV. D1 receptors in prefrontal cells and circuits. Brain Res Rev 2000;31:295-301. [57] Egan MF, Goldberg TE, Kolachana BS, Callicott JH, Mazzanti CM, Straub RE, et al. Effect of COMT Val 108/158 Met genotype on frontal lobe function and risk for schizophrenia. Proc Natl Acad Sci USA 2001; 98:6917-22. [58] Tunbridge EM, Harrison PJ, Weinberger DR. Catechol-O- Methyltransferase, cognition, and psychosis: val158met and beyond. Biol Psychiatry 2006;60:141-51. [59] Karayiorgou M, Gogos JA. The molecular genetics of the 22q11associated schizophrenia. Brain Res Mol Brain Res 2004;132:95-104. [60] Jacquet H, Berthelot J, Bonnemains C, Simard G, Saugier-Veber P, Raux G, et al. The severe form of type I hyperprolinaemia results from homozygous inactivation of the PRODH gene. J Med Genet 2003;40: e7. [61] Jacquet H, Raux G, Thibaut F, Hecketsweiler B, Houy E, Demily C, et al. PRODH mutations and hyperprolinemia in a subset of schizophrenic patients. Hum Mol Genet 2002;11:2243-9. [62] Jacquet H, Demily C, Houy E, Hecketsweiler B, Bou J, Raux G, et al. Hyperprolinemia is a risk factor for schizoaffective disorder. Mol Psychiatry 2005;10:479-85. [63] Bender HU, Almashanu S, Steel G, Hu CA, Lin WW, Willis A. Functional consequences of PRODH missense mutations. Am J Hum Genet 2005;76:409-20. [64] Raux G, Bumsel E, Hecketsweiler B, Amelsvoort T, Zinkstok J, Manouvrier-Hanu S, et al. Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndrome. Hum Mol Genet 2007;16:83-91. [65] Liu H, Heath SC, Sobin C, Roos JL, Galke BL, Blundell ML, et al. Genetic variation at the 22q11 PRODH2/DGCR6 locus presents an unusual pattern and increases susceptibility to schizophrenia. Proc Natl Acad Sci USA 2002;99:3717-22. [66] Paterlini M, Zakharenko SS, Lai WS, Qin J, Zhang H, Mukai J, et al. Transcriptional and behavioural interaction between 22q11.2 orthologs modulates schizophrenia-related phenotypes in mice. Nat Neurosci 2005;8:1586-94. [67] Wong AH, Gottesman II, Petronis A. Phenotypic differences in genetically identical organisms: the epigenetic perspective. Hum Mol Genet 2005;14:R11-R18. [68] Mirnics K, Levitt P, Lewis DA. Critical appraisal of DNA microarrays in psychiatric genomics. Biol Psychiatry 2006;60:163-76. [69] Perkins DO, Jeffries C, Sullivan P. Expanding the ″central dogma″: the regulatory role of non protein coding genes and implications for the genetic liability to schizophrenia. Mol Psychiatry 2005;10:69-78. [70] Caspi A, Moffitt TE. Gene-environment interactions in psychiatry: joining forces with neuroscience. Nat Rev 2006;7:583-9. [71] Caspi A, Moffitt TE, Cannon M, McClay J, Murray R, Harrington HL, et al. Moderation of the effect of adolescent-onset cannabis use on adult psychosis by a functional polymorphism in the catechol-Omethyltransferase gene: longitudinal evidence of a gene x environment interaction. Biol Psychiatry 2005;57:1117-27. [72] Demily C, Thibaut F. Facteurs de risques environnementaux à la schizophrénie. Ann Méd Psychol 2007 (à paraître). [73] Nicodemus KK, Liu W, Chase GA, Tsai YY, Fallin MD. Comparison of type I error for multiple test corrections in large single-nucleotide polymorphism studies using principal components versus haplotype blocking algorithms. BMC Genet 2005;1:S78. F. Thibaut (Florence.Thibaut@chu-rouen.fr). Service universitaire de psychiatrie, Centre hospitalier universitaire Charles Nicolle, 1, rue de Germont, 76031 Rouen, France. Centre hospitalier du Rouvray, Inserm U 614, UFR de médecine, Rouen, France. Toute référence à cet article doit porter la mention : Thibaut F. Données génétiques de la schizophrénie. EMC (Elsevier Masson SAS, Paris), Psychiatrie, 37-285-A-16, 2007. Disponibles sur www.emc-consulte.com Psychiatrie Arbres décisionnels Iconographies supplémentaires Vidéos / Animations Documents légaux Information au patient Données génétiques de la schizophrénie 37-285-A-16 Informations supplémentaires Autoévaluations 11
Page 1 and 2: Plan Données génétiques de la sc
Page 3 and 4: facteurs de risque génétiques en
Page 5 and 6: que le syndrome du X fragile, il ex
Page 7 and 8: . dans des maladies non psychiatriq
Page 9: d’études de transcriptome et d

Données génétiques de la schizophrénie - Psychologie - M. Fouchey

You also want an ePaper? Increase the reach of your titles

Delete template?

Save as template?