請用此 Handle URI 來引用此文件：
http://tdr.lib.ntu.edu.tw/jspui/handle/123456789/47142完整後設資料紀錄
| DC 欄位 | 值 | 語言 |
|---|---|---|
| dc.contributor.advisor | 胡海國 | |
| dc.contributor.author | Yi-Ting Lin | en |
| dc.contributor.author | 林奕廷 | zh_TW |
| dc.date.accessioned | 2021-06-15T05:48:47Z | - |
| dc.date.available | 2016-10-07 | |
| dc.date.copyright | 2011-10-07 | |
| dc.date.issued | 2011 | |
| dc.date.submitted | 2011-08-19 | |
| dc.identifier.citation | A haplotype map of the human genome. Nature. 2005 Oct 27;437(7063):1299-320.
Ahveninen J, Jaaskelainen IP, Osipova D, Huttunen MO, Ilmoniemi RJ, Kaprio J, et al. Inherited auditory-cortical dysfunction in twin pairs discordant for schizophrenia. Biol Psychiatry. 2006 Sep 15;60(6):612-20. Alho K, Woods DL, Algazi A, Knight RT, Naatanen R. Lesions of frontal cortex diminish the auditory mismatch negativity. Electroencephalogr Clin Neurophysiol. 1994 Nov;91(5):353-62. Allen NC, Bagade S, McQueen MB, Ioannidis JP, Kavvoura FK, Khoury MJ, et al. Systematic meta-analyses and field synopsis of genetic association studies in schizophrenia: the SzGene database. Nat Genet. 2008 Jul;40(7):827-34. Andersson O, Stenqvist A, Attersand A, von Euler G. Nucleotide sequence, genomic organization, and chromosomal localization of genes encoding the human NMDA receptor subunits NR3A and NR3B. Genomics. 2001 Dec;78(3):178-84. Araki K, Meguro H, Kushiya E, Takayama C, Inoue Y, Mishina M. Selective expression of the glutamate receptor channel delta 2 subunit in cerebellar Purkinje cells. Biochem Biophys Res Commun. 1993 Dec 30;197(3):1267-76. Baker K, Baldeweg T, Sivagnanasundaram S, Scambler P, Skuse D. COMT Val108/158 Met modifies mismatch negativity and cognitive function in 22q11 deletion syndrome. Biol Psychiatry. 2005 Jul 1;58(1):23-31. Baldeweg T, Klugman A, Gruzelier JH, Hirsch SR. Impairment in frontal but not temporal components of mismatch negativity in schizophrenia. Int J Psychophysiol. 2002 Feb;43(2):111-22. Baldeweg T, Wong D, Stephan KE. Nicotinic modulation of human auditory sensory memory: Evidence from mismatch negativity potentials. Int J Psychophysiol. 2006 Jan;59(1):49-58. Barrett JC, Fry B, Maller J, Daly MJ. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics. 2005 Jan 15;21(2):263-5. Bassett AS, Costain G, Fung WL, Russell KJ, Pierce L, Kapadia R, et al. Clinically detectable copy number variations in a Canadian catchment population of schizophrenia. J Psychiatr Res. 2010 Nov;44(15):1005-9. Begni S, Moraschi S, Bignotti S, Fumagalli F, Rillosi L, Perez J, et al. Association between the G1001C polymorphism in the GRIN1 gene promoter region and schizophrenia. Biol Psychiatry. 2003 Apr 1;53(7):617-9. Bendel O, Meijer B, Hurd Y, von Euler G. Cloning and expression of the human NMDA receptor subunit NR3B in the adult human hippocampus. Neurosci Lett. 2005 Mar 22;377(1):31-6. Betcheva ET, Mushiroda T, Takahashi A, Kubo M, Karachanak SK, Zaharieva IT, et al. Case-control association study of 59 candidate genes reveals the DRD2 SNP rs6277 (C957T) as the only susceptibility factor for schizophrenia in the Bulgarian population. J Hum Genet. 2009 Feb;54(2):98-107. Bramon E, Croft RJ, McDonald C, Virdi GK, Gruzelier JG, Baldeweg T, et al. Mismatch negativity in schizophrenia: a family study. Schizophr Res. 2004 Mar 1;67(1):1-10. Cardno AG, Gottesman, II. Twin studies of schizophrenia: from bow-and-arrow concordances to star wars Mx and functional genomics. Am J Med Genet. 2000 Spring;97(1):12-7. Catts SV, Shelley AM, Ward PB, Liebert B, McConaghy N, Andrews S, et al. Brain potential evidence for an auditory sensory memory deficit in schizophrenia. Am J Psychiatry. 1995 Feb;152(2):213-9. Cavara NA, Hollmann M. Shuffling the deck anew: how NR3 tweaks NMDA receptor function. Mol Neurobiol. 2008 Aug;38(1):16-26. Chen WJ, Liu SK, Chang CJ, Lien YJ, Chang YH, Hwu HG. Sustained attention deficit and schizotypal personality features in nonpsychotic relatives of schizophrenic patients. Am J Psychiatry. 1998 Sep;155(9):1214-20. Chiu HJ, Wang YC, Liou YJ, Lai IC, Chen JY. Association analysis of the genetic variants of the N-methyl D-aspartate receptor subunit 2b (NR2b) and treatment-refractory schizophrenia in the Chinese. Neuropsychobiology. 2003;47(4):178-81. Devrim-Ucok M, Keskin-Ergen HY, Ucok A. Mismatch negativity at acute and post-acute phases of first-episode schizophrenia. Eur Arch Psychiatry Clin Neurosci. 2008 Apr;258(3):179-85. Di Maria E, Gulli R, Begni S, De Luca A, Bignotti S, Pasini A, et al. Variations in the NMDA receptor subunit 2B gene (GRIN2B) and schizophrenia: a case-control study. Am J Med Genet B Neuropsychiatr Genet. 2004 Jul 1;128B(1):27-9. Ehrlichman RS, Luminais SN, White SL, Rudnick ND, Ma N, Dow HC, et al. Neuregulin 1 transgenic mice display reduced mismatch negativity, contextual fear conditioning and social interactions. Brain Res. 2009 Oct 19;1294:116-27. Ehrlichman RS, Maxwell CR, Majumdar S, Siegel SJ. Deviance-elicited changes in event-related potentials are attenuated by ketamine in mice. J Cogn Neurosci. 2008 Aug;20(8):1403-14. Engeland C, Mahoney C, Mohr E, Ilivitsky V, Knott VJ. Acute nicotine effects on auditory sensory memory in tacrine-treated and nontreated patients with Alzheimer's disease: an event-related potential study. Pharmacol Biochem Behav. 2002 May;72(1-2):457-64. Fallin MD, Lasseter VK, Avramopoulos D, Nicodemus KK, Wolyniec PS, McGrath JA, et al. Bipolar I disorder and schizophrenia: a 440-single-nucleotide polymorphism screen of 64 candidate genes among Ashkenazi Jewish case-parent trios. Am J Hum Genet. 2005 Dec;77(6):918-36. Frazer KA, Ballinger DG, Cox DR, Hinds DA, Stuve LL, Gibbs RA, et al. A second generation human haplotype map of over 3.1 million SNPs. Nature. 2007 Oct 18;449(7164):851-61. Freedman R, Coon H, Myles-Worsley M, Orr-Urtreger A, Olincy A, Davis A, et al. Linkage of a neurophysiological deficit in schizophrenia to a chromosome 15 locus. Proc Natl Acad Sci U S A. 1997 Jan 21;94(2):587-92. Furukawa H, Singh SK, Mancusso R, Gouaux E. Subunit arrangement and function in NMDA receptors. Nature. 2005 Nov 10;438(7065):185-92. 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 Jun 21;296(5576):2225-9. Galehdari H, Pooryasin A, Foroughmand A, Daneshmand S, Saadat M. Association between the G1001C polymorphism in the GRIN1 gene promoter and schizophrenia in the Iranian population. J Mol Neurosci. 2009 Jun;38(2):178-81. Georgi A, Jamra RA, Klein K, Villela AW, Schumacher J, Becker T, et al. Possible association between genetic variants at the GRIN1 gene and schizophrenia with lifetime history of depressive symptoms in a German sample. Psychiatr Genet. 2007 Oct;17(5):308-10. Gottesman II, Gould TD. The endophenotype concept in psychiatry: etymology and strategic intentions. Am J Psychiatry. 2003 Apr;160(4):636-45. Grimwood S, Slater P, Deakin JF, Hutson PH. NR2B-containing NMDA receptors are up-regulated in temporal cortex in schizophrenia. Neuroreport. 1999 Feb 25;10(3):461-5. Guo S-Z, Huang K, Shi Y-Y, Tang W, Zhou J, Feng G-Y, et al. A case-control association study between the GRID1 gene and schizophrenia in the Chinese Northern Han population. Schizophr Res. 2007 Jul;93(1-3):385-90. Hall MH, Schulze K, Rijsdijk F, Picchioni M, Ettinger U, Bramon E, et al. Heritability and reliability of P300, P50 and duration mismatch negativity. Behav Genet. 2006 Nov;36(6):845-57. Hammond L, Castanotto D, Rice SR, Nimgaonkar VL, Wirshing DA, Rossi JJ, et al. Alteration of branch site consensus sequence and enhanced pre-mRNA splicing of an NMDAR1 intron not associated with schizophrenia. Am J Med Genet. 2002 Aug 8;114(6):631-6. Harkrider AW, Hedrick MS. Acute effect of nicotine on auditory gating in smokers and non-smokers. Hear Res. 2005 Apr;202(1-2):114-28. Heekeren K, Daumann J, Neukirch A, Stock C, Kawohl W, Norra C, et al. Mismatch negativity generation in the human 5HT2A agonist and NMDA antagonist model of psychosis. Psychopharmacology (Berl). 2008 Jul;199(1):77-88. Hong CJ, Yu YW, Lin CH, Cheng CY, Tsai SJ. Association analysis for NMDA receptor subunit 2B (GRIN2B) genetic variants and psychopathology and clozapine response in schizophrenia. Psychiatr Genet. 2001 Dec;11(4):219-22. Hung C-C, Chen H-Y, Chen C-H. Systematic mutation analysis of the human glutamate receptor, ionotropic, N-methyl-D-aspartate 1 gene(GRIN1) in schizophrenic patients. Psychiatr Genet. 2002 Dec;12(4):225-30. Inami R, Kirino E, Inoue R, Arai H. Transdermal nicotine administration enhances automatic auditory processing reflected by mismatch negativity. Pharmacol Biochem Behav. 2005 Mar;80(3):453-61. Itokawa M, Yamada K, Yoshitsugu K, Toyota T, Suga T, Ohba H, et al. A microsatellite repeat in the promoter of the N-methyl-D-aspartate receptor 2A subunit (GRIN2A) gene suppresses transcriptional activity and correlates with chronic outcome in schizophrenia. Pharmacogenetics. 2003 May;13(5):271-8. Iwayama Y, Hashimoto K, Nakajima M, Toyota T, Yamada K, Shimizu E, et al. Analysis of correlation between serum D-serine levels and functional promoter polymorphisms of GRIN2A and GRIN2B genes. Neurosci Lett. 2006 Feb 13;394(2):101-4. Javitt DC. Negative schizophrenic symptomatology and the PCP (phencyclidine) model of schizophrenia. Hillside J Clin Psychiatry. 1987;9(1):12-35. Javitt DC, Steinschneider M, Schroeder CE, Arezzo JC. Role of cortical N-methyl-D-aspartate receptors in auditory sensory memory and mismatch negativity generation: implications for schizophrenia. Proc Natl Acad Sci U S A. 1996 Oct 15;93(21):11962-7. Javitt DC, Steinschneider M, Schroeder CE, Vaughan HG, Jr., Arezzo JC. Detection of stimulus deviance within primate primary auditory cortex: intracortical mechanisms of mismatch negativity (MMN) generation. Brain Res. 1994 Dec 26;667(2):192-200. Javitt DC, Zukin SR. Recent advances in the phencyclidine model of schizophrenia. Am J Psychiatry. 1991 Oct;148(10):1301-8. Jessen F, Fries T, Kucharski C, Nishimura T, Hoenig K, Maier W, et al. Amplitude reduction of the mismatch negativity in first-degree relatives of patients with schizophrenia. Neurosci Lett. 2001 Aug 31;309(3):185-8. Kahkonen S, Makinen V, Jaaskelainen IP, Pennanen S, Liesivuori J, Ahveninen J. Serotonergic modulation of mismatch negativity. Psychiatry Res. 2005 Jan 30;138(1):61-74. Kasai K, Nakagome K, Itoh K, Koshida I, Hata A, Iwanami A, et al. Multiple generators in the auditory automatic discrimination process in humans. Neuroreport. 1999 Aug 2;10(11):2267-71. Kasai K, Yamada H, Kamio S, Nakagome K, Iwanami A, Fukuda M, et al. Do high or low doses of anxiolytics and hypnotics affect mismatch negativity in schizophrenic subjects? An EEG and MEG study. Clin Neurophysiol. 2002 Jan;113(1):141-50. Kawakubo Y, Kasai K, Kudo N, Rogers MA, Nakagome K, Itoh K, et al. Phonetic mismatch negativity predicts verbal memory deficits in schizophrenia. Neuroreport. 2006 Jul 17;17(10):1043-6. Kim JS, Kornhuber HH, Schmid-Burgk W, Holzmuller B. Low cerebrospinal fluid glutamate in schizophrenic patients and a new hypothesis on schizophrenia. Neurosci Lett. 1980 Dec;20(3):379-82. Knott V, Blais C, Scherling C, Camarda J, Millar A, Fisher D, et al. Neural effects of nicotine during auditory selective attention in smokers: an event-related potential study. Neuropsychobiology. 2006;53(3):115-26. Korostenskaja M, Dapsys K, Siurkute A, Maciulis V, Ruksenas O, Kahkonen S. Effects of olanzapine on auditory P300 and mismatch negativity (MMN) in schizophrenia spectrum disorders. Prog Neuropsychopharmacol Biol Psychiatry. 2005 May;29(4):543-8. Krystal JH, Karper LP, Seibyl JP, Freeman GK, Delaney R, Bremner JD, et al. Subanesthetic effects of the noncompetitive NMDA antagonist, ketamine, in humans. Psychotomimetic, perceptual, cognitive, and neuroendocrine responses. Arch Gen Psychiatry. 1994 Mar;51(3):199-214. Lee CH, Liu CM, Wen CC, Chang SM, Hwu HG. Genetic copy number variants in sib pairs both affected with schizophrenia. J Biomed Sci. 2010;17:2. Leonard S, Gault J, Hopkins J, Logel J, Vianzon R, Short M, 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 December 1, 2002;59(12):1085-96. Leonard S, Gault J, Moore T, Hopkins J, Robinson M, Olincy A, et al. Further investigation of a chromosome 15 locus in schizophrenia: analysis of affected sibpairs from the NIMH Genetics Initiative. Am J Med Genet. 1998 Jul 10;81(4):308-12. Light GA, Braff DL. Mismatch negativity deficits are associated with poor functioning in schizophrenia patients. Arch Gen Psychiatry. 2005 Feb;62(2):127-36. Liou Y-J, Wang Y-C, Chen J-Y, Bai Y-M, Lin C-C, Liao D-L, et al. Association analysis of polymorphisms in the N-methyl-D-aspartate (NMDA) receptor subunit 2B (GRIN2B) gene and tardive dyskinesia in schizophrenia. Psychiatr Res. 2007 Dec 3;153(3):271-5. Liu HP, Lin WY, Liu SH, Wang WF, Tsai CH, Wu BT, et al. Genetic variation in N-methyl-D-aspartate receptor subunit NR3A but not NR3B influences susceptibility to Alzheimer's disease. Dement Geriatr Cogn Disord. 2009;28(6):521-7. Magno E, Yeap S, Thakore JH, Garavan H, De Sanctis P, Foxe JJ. Are auditory-evoked frequency and duration mismatch negativity deficits endophenotypic for schizophrenia? High-density electrical mapping in clinically unaffected first-degree relatives and first-episode and chronic schizophrenia. Biol Psychiatry. 2008 Sep 1;64(5):385-91. Makino C, Shibata H, Ninomiya H, Tashiro N, Fukumaki Y. Identification of single-nucleotide polymorphisms in the human N-methyl-D-aspartate receptor subunit NR2D gene, GRIN2D, and association study with schizophrenia. Psychiatr Genet. 2005 Sep;15(3):215-21. Martucci L, Wong AHC, De Luca V, Likhodi O, Wong GWH, King N, et al. N-methyl-D-aspartate receptor NR2B subunit gene GRIN2B in schizophrenia and bipolar disorder: Polymorphisms and mRNA levels. Schizophr Res. 2006 Jun;84(2-3):214-21. Martucci L, Wong AHC, Trakalo J, Cate-Carter T, Wong GWH, Macciardi FM, et al. N-methyl-D-aspartate receptor NR1 subunit gene (GRIN1) in schizophrenia: TDT and case-control analyses. Am J Med Genet B Neuropsychiatr Genet. 2003 May 15;119B(1):24-7. Matsuda K, Fletcher M, Kamiya Y, Yuzaki M. Specific assembly with the NMDA receptor 3B subunit controls surface expression and calcium permeability of NMDA receptors. J Neurosci. 2003 Nov 5;23(31):10064-73. Meador-Woodruff JH, Healy DJ. Glutamate receptor expression in schizophrenic brain. Brain Res Brain Res Rev. 2000 Mar;31(2-3):288-94. Michie PT, Innes-Brown H, Todd J, Jablensky AV. Duration mismatch negativity in biological relatives of patients with schizophrenia spectrum disorders. Biol Psychiatry. 2002 Oct 1;52(7):749-58. Miyatake R, Furukawa A, Suwaki H. Identification of a novel variant of the human NR2B gene promoter region and its possible association with schizophrenia. Mol Psychiatry. 2002;7(10):1101-6. Mohn AR, Gainetdinov RR, Caron MG, Koller BH. Mice with reduced NMDA receptor expression display behaviors related to schizophrenia. Cell. 1999 Aug 20;98(4):427-36. Mueller HT, Haroutunian V, Davis KL, Meador-Woodruff JH. Expression of the ionotropic glutamate receptor subunits and NMDA receptor-associated intracellular proteins in the substantia nigra in schizophrenia. Brain Res Mol Brain Res. 2004 Feb 5;Molecular Brain Research. 121(1-2):60-9. Muller BW, Juptner M, Jentzen W, Muller SP. Cortical activation to auditory mismatch elicited by frequency deviant and complex novel sounds: a PET study. Neuroimage. 2002 Sep;17(1):231-9. Naatanen R, Alho K. Generators of electrical and magnetic mismatch responses in humans. Brain Topogr. 1995 Summer;7(4):315-20. Naatanen R, Kahkonen S. Central auditory dysfunction in schizophrenia as revealed by the mismatch negativity (MMN) and its magnetic equivalent MMNm: a review. Int J Neuropsychopharmcol. 2009 Feb;12(1):125-35. Niemann S, Landers JE, Churchill MJ, Hosler B, Sapp P, Speed WC, et al. Motoneuron-specific NR3B gene: no association with ALS and evidence for a common null allele. Neurology. 2008 Feb 26;70(9):666-76. Nishi M, Hinds H, Lu HP, Kawata M, Hayashi Y. Motoneuron-specific expression of NR3B, a novel NMDA-type glutamate receptor subunit that works in a dominant-negative manner. J Neurosci. 2001 Dec 1;21(23):RC185. Nishiguchi N, Shirakawa O, Ono H, Hashimoto T, Maeda K. Novel polymorphism in the gene region encoding the carboxyl-terminal intracellular domain of the NMDA receptor 2B subunit: analysis of association with schizophrenia. Am J Psychiatry. 2000 Aug;157(8):1329-31. Oades RD, Dittmann-Balcar A, Zerbin D, Grzella I. Impaired attention-dependent augmentation of MMN in nonparanoid vs paranoid schizophrenic patients: a comparison with obsessive-compulsive disorder and healthy subjects. Biol Psychiatry. 1997 Jun 15;41(12):1196-210. Oades RD, Zerbin D, Dittmann-Balcar A, Eggers C. Auditory event-related potential (ERP) and difference-wave topography in schizophrenic patients with/without active hallucinations and delusions: a comparison with young obsessive-compulsive disorder (OCD) and healthy subjects. Int J Psychophysiol. 1996 Jun-Jul;22(3):185-214. Ohtsuki T, Sakurai K, Dou H, Toru M, Yamakawa-Kobayashi K, Arinami T. Mutation analysis of the NMDAR2B (GRIN2B) gene in schizophrenia. Mol Psychiatry. 2001 Mar;6(2):211-6. Park H-J, Kwon JS, Youn T, Pae JS, Kim J-J, Kim M-S, et al. Statistical parametric mapping of LORETA using high density EEG and individual MRI: application to mismatch negativities in schizophrenia. Hum Brain Mapp. 2002 Nov;17(3):168-78. Paus S, Rietschel M, Schulze TG, Ohlraun S, Diaconu CC, Van Den Bogaert A, et al. Systematic screening for mutations in the human N-methyl-D-aspartate receptor 1 gene in schizophrenic patients from the German population. Psychiatr Genet. 2004 Dec;14(4):233-4. Pekkonen E, Rinne T, Naatanen R. Variability and replicability of the mismatch negativity. Electroencephalogr Clin Neurophysiol. 1995 Nov;96(6):546-54. Purcell S. PLINK version 1.07. http://pngu.mgh.harvard.edu/purcell/plink/ 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 Sep;81(3):559-75. Qin S, Zhao X, Pan Y, Liu J, Feng G, Fu J, et al. An association study of the N-methyl-D-aspartate receptor NR1 subunit gene (GRIN1) and NR2B subunit gene (GRIN2B) in schizophrenia with universal DNA microarray. Eur J Hum Genet. 2005 Jul;13(7):807-14. Sakurai K, Toru M, Yamakawa-Kobayashi K, Arinami T. Mutation analysis of the N-methyl-D-aspartate receptor NR1 subunit gene (GRIN1) in schizophrenia. Neurosci Lett. 2000 Dec 22;296(2-3):168-70. Salisbury DF, Kuroki N, Kasai K, Shenton ME, McCarley RW. Progressive and interrelated functional and structural evidence of post-onset brain reduction in schizophrenia. Arch Gen Psychiatry. 2007 May;64(5):521-9. Salisbury DF, Shenton ME, Griggs CB, Bonner-Jackson A, McCarley RW. Mismatch negativity in chronic schizophrenia and first-episode schizophrenia. Arch Gen Psychiatry. 2002 2002 Aug;59(8):686-94. Salisbury DF, Shenton ME, Griggs CB, Bonner-Jackson A, McCarley RW. Mismatch negativity in chronic schizophrenia and first-episode schizophrenia. Arch Gen Psychiatry. 2002 Aug;59(8):686-94. Sato Y, Yabe H, Todd J, Michie P, Shinozaki N, Sutoh T, et al. Impairment in activation of a frontal attention-switch mechanism in schizophrenic patients. Biol Psychol. 2003 Jan;62(1):49-63. Schairer KS, Gould HJ, Pousson MA. Source generators of mismatch negativity to multiple deviant stimulus types. Brain Topogr. 2001 Winter;14(2):117-30. Schall U, Catts SV, Chaturvedi S, Liebert B, Redenbach J, Karayanidis F, et al. The effect of clozapine therapy on frontal lobe dysfunction in schizophrenia: neuropsychology and event-related potential measures. Int J Neuropsychopharmacol. 1998 Jul;1(1):19-29. Schall U, Catts SV, Karayanidis F, Ward PB. Auditory event-related potential indices of fronto-temporal information processing in schizophrenia syndromes: valid outcome prediction of clozapine therapy in a three-year follow-up. Int J Neuropsychopharmacol. 1999 Jun;2(2):83-93. Schall U, Johnston P, Todd J, Ward PB, Michie PT. Functional neuroanatomy of auditory mismatch processing: an event-related fMRI study of duration-deviant oddballs. Neuroimage. 2003 Oct;20(2):729-36. Scott L, Aperia A. Interaction between N-methyl-D-aspartic acid receptors and D1 dopamine receptors: an important mechanism for brain plasticity. Neuroscience. 2009 Jan 12;158(1):62-6. Selimi F, Lohof AM, Heitz S, Lalouette A, Jarvis CI, Bailly Y, et al. Lurcher GRID2-induced death and depolarization can be dissociated in cerebellar Purkinje cells. Neuron. 2003 Mar 6;37(5):813-9. Semlitsch HV, Anderer P, Schuster P, Presslich O. A solution for reliable and valid reduction of ocular artifacts, applied to the P300 ERP. Psychophysiology. 1986 Nov;23(6):695-703. Shen YC, Liao DL, Chen JY, Wang YC, Lai IC, Liou YJ, et al. Exomic sequencing of the glutamate receptor, ionotropic, N-methyl-d-aspartate 3A gene (GRIN3A) reveals no association with schizophrenia. Schizophr Res. 2009 Oct;114(1-3):25-32. Sodhi M, Wood KH, Meador-Woodruff J. Role of glutamate in schizophrenia: integrating excitatory avenues of research. Expert Rev Neurother. 2008 Sep;8(9):1389-406. Tang J, Chen X, Xu X, Wu R, Zhao J, Hu Z, et al. Significant linkage and association between a functional (GT)n polymorphism in promoter of the N-methyl-D-aspartate receptor subunit gene (GRIN2A) and schizophrenia. Neurosci Lett. 2006 Nov 27;409(1):80-2. Tani A, Kikuta R, Itoh K, Joo A, Shibata H, Ninomiya H, et al. Polymorphism analysis of the upstream region of the human N-methyl-D-aspartate receptor subunit NR1 gene (GRIN1): implications for schizophrenia. Schizophr Res. 2002 Nov 1;58(1):83-6. Thomas RK, Baker AC, Debiasi RM, Winckler W, Laframboise T, Lin WM, et al. High-throughput oncogene mutation profiling in human cancer. Nat Genet. 2007 Mar;39(3):347-51. Thorisson GA, Smith AV, Krishnan L, Stein LD. The International HapMap Project Web site. Genome Res. 2005 Nov;15(11):1592-3. Tikhonravov D, Neuvonen T, Pertovaara A, Savioja K, Ruusuvirta T, Naatanen R, et al. Effects of an NMDA-receptor antagonist MK-801 on an MMN-like response recorded in anesthetized rats. Brain Res. 2008 Apr 8;1203:97-102. Todd J, Michie PT, Schall U, Karayanidis F, Yabe H, Naatanen R. Deviant matters: duration, frequency, and intensity deviants reveal different patterns of mismatch negativity reduction in early and late schizophrenia. Biol Psychiatry. 2008 Jan 1;63(1):58-64. Towey JP, Tenke CE, Bruder GE, Leite P, Friedman D, Liebowitz M, et al. Brain event-related potential correlates of overfocused attention in obsessive-compulsive disorder. Psychophysiology. 1994 Nov;31(6):535-43. Treutlein J, Muhleisen TW, Frank J, Mattheisen M, Herms S, Ludwig KU, et al. Dissection of phenotype reveals possible association between schizophrenia and Glutamate Receptor Delta 1 (GRID1) gene promoter. Schizophr Res. 2009 Jun;111(1-3):123-30. Tsai GE, Lin PY. Strategies to enhance N-methyl-D-aspartate receptor-mediated neurotransmission in schizophrenia, a critical review and meta-analysis. Curr Pharm Des. 2010;16(5):522-37. Umbricht D, Javitt D, Novak G, Bates J, Pollack S, Lieberman J, et al. Effects of clozapine on auditory event-related potentials in schizophrenia. Biol Psychiatry. 1998 Oct 15;44(8):716-25. Umbricht D, Javitt D, Novak G, Bates J, Pollack S, Lieberman J, et al. Effects of risperidone on auditory event-related potentials in schizophrenia. Int J Neuropsychopharmacol. 1999 Dec;2(4):299-304. Umbricht D, Koller R, Schmid L, Skrabo A, Grubel C, Huber T, et al. How specific are deficits in mismatch negativity generation to schizophrenia? Biol Psychiatry. 2003 Jun 15;53(12):1120-31. Umbricht D, Koller R, Vollenweider FX, Schmid L. Mismatch negativity predicts psychotic experiences induced by NMDA receptor antagonist in healthy volunteers. Biol Psychiatry. 2002 Mar 1;51(5):400-6. Umbricht D, Krljes S. Mismatch negativity in schizophrenia: a meta-analysis. Schizophr Res. 2005 Jul 1;76(1):1-23. Umbricht D, Schmid L, Koller R, Vollenweider FX, Hell D, Javitt DC. Ketamine-induced deficits in auditory and visual context-dependent processing in healthy volunteers: implications for models of cognitive deficits in schizophrenia. Arch Gen Psychiatry. 2000 Dec;57(12):1139-47. Umbricht D, Vollenweider FX, Schmid L, Grubel C, Skrabo A, Huber T, et al. Effects of the 5-HT2A agonist psilocybin on mismatch negativity generation and AX-continuous performance task: implications for the neuropharmacology of cognitive deficits in schizophrenia. Neuropsychopharmacol. 2003 Jan;28(1):170-81. van der Stelt O, Gunning WB, Snel J, Kok A. No electrocortical evidence of automatic mismatch dysfunction in children of alcoholics. Alcohol Clin Exp Res. 1997 Jun;21(4):569-75. Wang Y, Matsuda S, Drews V, Torashima T, Meisler MH, Yuzaki M. A hot spot for hotfoot mutations in the gene encoding the delta2 glutamate receptor. Eur J Neurosci. 2003 Apr;17(8):1581-90. Wigginton JE, Cutler DJ, Abecasis GR. A note on exact tests of Hardy-Weinberg equilibrium. Am J Hum Genet. 2005 May;76(5):887-93. Williams NM, Bowen T, Spurlock G, Norton N, Williams HJ, Hoogendoorn B, et al. Determination of the genomic structure and mutation screening in schizophrenic individuals for five subunits of the N-methyl-D-aspartate glutamate receptor. Mol Psychiatry. 2002;7(5):508-14. Yao Y, Harrison CB, Freddolino PL, Schulten K, Mayer ML. Molecular mechanism of ligand recognition by NR3 subtype glutamate receptors. EMBO J. 2008 Aug 6;27(15):2158-70. Zhang J, Xu TX, Hallett PJ, Watanabe M, Grant SG, Isacson O, et al. PSD-95 uncouples dopamine-glutamate interaction in the D1/PSD-95/NMDA receptor complex. J Neurosci. 2009 Mar 4;29(9):2948-60. Zhao X, Li H, Shi Y, Tang R, Chen W, Liu J, et al. Significant association between the genetic variations in the 5' end of the N-methyl-D-aspartate receptor subunit gene GRIN1 and schizophrenia. Biol Psychiatry. 2006 Apr 15;59(8):747-53. | |
| dc.identifier.uri | http://tdr.lib.ntu.edu.tw/jspui/handle/123456789/47142 | - |
| dc.description.abstract | 背景
失匹配負波(Mismatch negativity，簡稱MMN)是一種聽覺事件誘發電位，和N-methyl-D-aspartic acid (NMDA)受體功能有關，NMDA受體功能異常是精神分裂症核心的病理現象。MMN缺損被證實是慢性精神分裂症顯著的神精生理學現象，其效果大小約為0.99。MMN也是精神分裂症可能的內表現型之一，有助於複雜遺傳疾病的關聯性研究。所以本研究有兩個假說： (1) NMDA受體次單元基因和精神分裂症有關聯； (2) NMDA受體次單元基因和MMN有關聯。 研究方法 本研究為病例對照單核苷酸多型性(single nucleotide polymorphism，簡稱SNP)關聯性研究，研究個案包括138位精神分裂症患者和103位健康受試者。分析的NMDA受體次單元基因包括GRIN1、GRIN2B、GRIN2C、GRIN2D和GRIN3B，另外也探討GRID1這個基因。使用的遺傳標致為haplotype-tagged SNP以及經文獻報告和精神分裂症有顯著關聯的SNP。SNP以MassArray iPLEX SNP genotyping的方式定序；關聯分析以單一SNP及單套體(haplotype-based)為單位。驗證第二個假說時，將先檢查基因型和生病狀態的交互作用對於MMN有無影響。如果交互作用顯著，再分別於個案組和對照組分析MMN和SNP的關聯。對於名義p值小於0.05的結果，用permutation 一萬次的方式得到經驗p值，以減少多重比較的影響。本研究也分析SNP-SNP交互作用對於罹病狀態和MMN的影響。 結果 精神分裂症患者有顯著的MMN 缺損。在48個被定序的SNP中，有40個通過品質檢查標準。這40個SNP和精神分裂症沒有顯著關聯；但是在健康受試者，位於GRIN3B的rs2240158在additive model和dominant model都和MMN有顯著關聯，經驗p值分別為0.039和0.013。單套體分析和SNP-SNP交互作用分析沒有顯著發現。 結論 我們的資料不支持GRIN1、GRIN2B、GRIN2C、GRIN2D、GRIN3B和GRID1為精神分裂症致病基因的假說。在健康受試者GRIN3B的rs2240158與MMN有顯著關聯。GRIN3B的功能以及其和MMN的關聯，需要更多研究去探討證實。 | zh_TW |
| dc.description.abstract | Background
Mismatch negativity (MMN) is an auditory event-related potential and is related to the N-methyl-D-aspartic acid (NMDA) receptor function. The NMDA receptor system dysfunction is a core pathology of schizophrenia. MMN deficit is a robust neurophysiological feature in chronic schizophrenia, with effect size around 0.99. It is also a candidate endophenotype for schizophrenia and may be useful for the association analysis of this complex genetic disorder. In this study, we hypothesized that (1) NMDA receptor subunits genes are associated with schizophrenia, and (2) NMDA receptor subunits genes are associated with MMN. Method The study is a case-control single nucleotide polymorphism (SNP) association analysis. 138 schizophrenia patients and 103 healthy controls were enrolled. NMDA receptor subunit genes were GRIN1, GRIN2B, GRIN2C, GRIN2D, and GRIN3B and GRID1 were investigated. Haplotype-tagged SNPs and SNPs reported to be significantly associated with schizophrenia were genotyped by MassArray iPLEX SNP genotyping system. Both single-SNP-based and haplotype-based association analyses were conducted. To test the second hypothesis, interaction between SNP and disease status was explored first. If the interaction term was significant, separate analysis would be done in case group and control group respectively. Each nominally significant result was permuted for 10,000 times to get empirical p-value, in order to decrease the influence of multiple comparison. The epistatic effects on affected status and MMN were analyzed as well. Results MMN was significantly impaired in schizophrenia patients. 48 SNPs were genotyped, and 40 of them passed the quality control criteria. None of the 40 SNPs were associated with affected status. In healthy subject group, rs2240158 of GRIN3B was significantly associated with MMN in both additive model (empirical p-value 0.039) and dominant model (empirical p-value 0.013). Haplotype-based and epistatical association analysis yielded no significant result. Conclusions Our data didn’t support GRIN1, GRIN2B, GRIN2C, GRIN2D, GRIN3B, and GRID1 as candidate genes for schizophrenia. Rs2240158 of GRIN3B was significantly associated with MMN in healthy subjects. The functional significance and the association with MMN need further studies. | en |
| dc.description.provenance | Made available in DSpace on 2021-06-15T05:48:47Z (GMT). No. of bitstreams: 1 ntu-100-P98421013-1.pdf: 528849 bytes, checksum: b7e2a6e3be6bf622b7749beb5c6bddee (MD5) Previous issue date: 2011 | en |
| dc.description.tableofcontents | 誌謝………………………………………………………………………………. i
中文摘要…………………………………………………………………………. ii 英文摘要…………………………………………………………………………. iv 目錄………………….. vii 附件目錄…………………………………………………………………………. xi 圖表目錄…………………………………………………………………………. x 第一章 緒論……………………………………………………………………. 1 第一節 失匹配負波與精神分裂症……………………………………….. 1 第二節 失匹配負波與NMDA受體.……………………………………... 5 第三節 NMDA受體基因與精神分裂症.………………………………… 8 第四節 研究目的與假說..……………………………………………..….. 11 第二章 研究方法與材料………………………………………………………. 12 第一節 受試者納入與排除標準……………………………………...…... 12 第二節 Mismatch negativity…………………………………………….… 13 第三節 挑選將定序的SNP………………………………………….….… 15 第四節 基因型定序方式………………………………………………..… 16 第五節 統計分析………….…………………………………………….… 18 第三章 結果……….…………………………………………………………… 23 第一節 受試者………………………………………………………….…. 23 第二節 SNP定序結果……………………………………………………. 24 第三節 以罹病狀態為表現型的關聯分析……………………………… 27 第四節 以MMN為表現型的關聯分析…………………………..……… 28 第五節 SNP-SNP交互作用………………………………………………. 30 第四章 討論……….…………………………………………………………… 31 第五章 展望……….…………………………………………………………… 34 第六章 英文簡述(Summary)…….……………………………………………. 35 6.1 Background …………………………………………………………… 35 6.2 Methods ………………………………………………………….…… 41 6.3 Results ………………………………………………………………... 47 6.4 Discussions ………………………………………………………….… 48 參考文獻……….………………………………………………………………… 52 附件目錄 附錄表1、待定序的48個SNP…….…………………………………………... 74 附錄表2、個案對照關聯性分析(以生病狀態為表現型)……………………… 75 附錄表3、單套體關聯分析(以罹病狀態為表現型)…………………………… 77 附錄表4、個案對照關聯性分析(以MMN為表現型)…….……..……………. 79 附錄表5、單套體關聯分析-以MMN為表現型………………………………. 81 圖表目錄 表3.1、受試者人口學及臨床資料…................................................................... 23 表3.2、進行關聯分析的SNP…..…..................................................................... 24 表3.4、個案對照關聯性分析(以MMN為表現型)…......................................... 28 表3.5.1、SNP-SNP交互作用(以罹病狀態為表現型) ........................................ 30 表3.5.2、SNP-SNP交互作用(以MMN為表現型) ............................................ 30 圖2.5、本研究的遺傳分析模型………………................................................... 19 圖3.2、Pairwise D’ plot單套體區塊 ….............................................................. 26 圖3.4、Rs2240158與MMN …………................................................................ 29 | |
| dc.language.iso | zh-TW | |
| dc.subject | 酸多型性 | zh_TW |
| dc.subject | 失匹配負波 | zh_TW |
| dc.subject | 精神分裂症 | zh_TW |
| dc.subject | 麩胺酸 | zh_TW |
| dc.subject | NMDA受體 | zh_TW |
| dc.subject | 關聯分析 | zh_TW |
| dc.subject | 單核苷 | zh_TW |
| dc.subject | association analysis | en |
| dc.subject | single nucleotide polymorphism | en |
| dc.subject | mismatch negativity | en |
| dc.subject | schizophrenia | en |
| dc.subject | glutamate | en |
| dc.subject | NMDA receptor | en |
| dc.title | 精神分裂症的失匹配負波異常和NMDA受體基因的相關性研究 | zh_TW |
| dc.title | Genetic Association Study of Mismatch Negativity and NMDA Receptor Genes in Schizophrenia | en |
| dc.type | Thesis | |
| dc.date.schoolyear | 99-2 | |
| dc.description.degree | 碩士 | |
| dc.contributor.oralexamcommittee | 陳為堅,楊偉勛 | |
| dc.subject.keyword | 失匹配負波,精神分裂症,麩胺酸,NMDA受體,關聯分析,單核苷,酸多型性, | zh_TW |
| dc.subject.keyword | mismatch negativity,schizophrenia,glutamate,NMDA receptor,association analysis,single nucleotide polymorphism, | en |
| dc.relation.page | 82 | |
| dc.rights.note | 有償授權 | |
| dc.date.accepted | 2011-08-19 | |
| dc.contributor.author-college | 醫學院 | zh_TW |
| dc.contributor.author-dept | 臨床醫學研究所 | zh_TW |
| 顯示於系所單位： | 臨床醫學研究所 | |
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