精神分裂症超高危分子遗传学的研究进展
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摘要
精神分裂症超高危的转化与多种因素有关,近年来越来越多的文献显示精神分裂症超高危转化的机制与分子遗传学有关,因此本文对精神分裂症超高危的分子遗传学相关研究进展进行综述。
引文
[1] Bowie CR,Leung WW,Reichenberg A,et al. Predicting schizophrenia patients'real-world behavior with specific neuropsychological and functional capacity measures[J].Biol Psychiatry,2008,63(5):505-511.
[2] Hou CL,Xiang YT,Wang ZL,et al. Cognitive functioning in individuals at ultra-high risk for psychosis,first-degree relatives of patients with psychosis and patients with first-episode schizophrenia[J]. Schizophr Res,2016,174(1/3):71-76.
[3] Addington J,Cornblatt BA,Cadenhead KS,et al. At clinical high risk for psychosis:outcome for nonconverters[J]. Am J Psychiatry,2011,168(8):800-805.
[4] Hafner H,an der Heiden W. The course of schizophrenia in the light of modern follow-up studies:the ABC and WHO studies[J]. Eur Arch Psychiatry Clin Neurosci,1994,249Suppl 4:14-26.
[5] Modinos G,McGuire P. The prodromal phase of psychosis[J]. Curr Opin Neurobiol,2015,30:100-105.
[6] Fusar-Poli P,Bechdolf A,Taylor MJ,et al. At risk for schizophrenic or affective psychoses? a meta-analysis of DSM/ICD diagnostic outcomes in individuals at high clinical risk[J].Schizophr Bull,2013,39(4):923-932.
[7] Fusar-Poli P,Bonoldi I,Yung AR,et al. Predicting psychosis:meta-analysis of transition outcomes in individuals at high clinical risk[J]. Arch Gen Psychiatry,2012,69(3):220-229.
[8] Cannon TD,Cadenhead K,Cornblatt B,et al. Prediction of psychosis in youth at high clinical risk:a multisite longitudinal study in North America[J]. Arch Gen Psychiatry,2008,65(1):28-37.
[9] Thompson A,Nelson B,Yung A. Predictive validity of clinical variables in the“at risk”for psychosis population:international comparison with results from the North American Prodrome Longitudinal Study[J]. Schizophr Res,2011,126(1/3):51-57.
[10] Velthorst E,Nieman DH,Becker HE,et al. Baseline differences in clinical symptomatology between ultra high risk subjects with and without a transition to psychosis[J]. Schizophr Res,2009,109(1/3):60-65.
[11] Ziermans T,de Wit S,Schothorst P,et al. Neurocognitive and clinical predictors of long-term outcome in adolescents at ultra-high risk for psychosis:a 6-year follow-up[J].PLo S One,2014,9(4):e93994.
[12] Sullivan PF,Kendler KS,Neale MC. Schizophrenia as a complex trait-evidence from a meta-analysis of twin studies[J]. Arch Gen Psychiatry,2003,60(12):1 187-1 192.
[13] Adams HH,Hibar DP,Chouraki V,et al. Novel genetic loci underlying human intracranial volume identified through genome-wide association[J]. Nat Neurosci,2016,19(12):1 569-1 582.
[14]李大伟,顾鸣敏.精神分裂症主要易感基因的研究进展[J].国际遗传学杂志,2012,35(5):283-289.
[15] Rieff HI,Raetzman LT,Sapp DW. Neuregulin induces GABA(A)receptor subunit expression and neurite outgrowth in cerebellar granule cells[J]. J Neurosci,1999,19(24):10 757-10 766.
[16] Ozaki M,Sasner M,Yano R,et al. Neuregulin-beta induces expression of an NMDA-receptor subunit[J] Nature,1997,390(6 661):691-694.
[17]张红星,董召,寇延娜,等. Neuregulin 1基因433E1006及rs3924999位点多态性与精神分裂症关联的meta分析[J].中华行为医学与脑科学杂志,2015,24(12):1 141-1 143.
[18] Hall J,Whalley HC,Job DE,et al. A neuregulin 1 variant associated with abnormal cortical function and psychotic symptoms[J]. Nat Neurosci,2006,9(12):1 477-1 478.
[19] Kéri S,Kiss I,Kelemen O. Effects of a neuregulin 1 variant on conversion to schizophrenia and schizophreniform disorder in People at high risk for psychosis[J]. Mol Psychiatry,2009,14(2):118-119.
[20] Bousman CA,Yung AR,Pantelis C,et al. Effects of NRG1and DAOA genetic variation on transition to psychosis in individuals at ultra-high risk for psychosis[J]. Transl Psychiatry,2013,3:e251.
[21]韩燕,宁启兰,张欢,等.中国汉族男性人群D-氨基酸氧化酶激活剂基因多态性与精神分裂症的关联研究[J].西安交通大学学报(医学版),2010,31(5):600-602.
[22]杨丽,邵静茹,阮冶,等. D-氨基酸氧化酶激活剂基因多态性与精神分裂症的关联研究[J].中华精神科杂志,2011,44(2):70-74.
[23] Korostishevsky M,Kaganovich M,Cholostoy A,et al. Is the G72/G30 locus associated with schizophrenia? Single nucleotide polymorphisms,haplotypes,and gene expression analysis[J]. Biol Psychiatry,2004,56(3):169-176.
[24] Chumakov I,Blumenfeld M,Guerassimenko O,et al. Genetic and physiological data implicating the new human gene G72and the gene for D-amino acid oxidase in schizophrenia[J].Proc Natl Acad Sci U S A,2002,99(21):13 675-13 680.
[25] M9essner R,Schuhmacher A,Wagner M,et al. DAOA/G72predicts the progression of prodromal syndromes to first episode psychosis[J]. Eur Arch Psychiatry Clin Neurosci,2010,260(3):209-215.
[26] Schneider M,DebbanéM,Bassett AS,et al. Psychiatric disorders from childhood to adulthood in 22q112 deletion syndrome:results from the International Consortium on Brain and Behavior in22q11. 2 deletion syndrome[J]. Am J Psychiatry,2014,171(6):627-639.
[27] Armando M,Girardi P,Vicari S,et al. Adolescents at ultra-high risk for psychosis with and without 22q11 deletion syndrome:a comparison of prodromal psychotic symptoms and general functioning[J]. Schizophr Res,2012,139(1/3):151-156.
[28] DebbanéM,Glaser B,David MK,et al. Psychotic symptoms in children and adolescents with 22q11. 2 deletion syndrome:Neuropsychological and behavioral implications[J]. Schizophr Res,2006,84(2/3):187-193.
[29] Schneider M,Van Der Linden M,Glaser B,et al. Preliminary structure and predictive value of attenuated negative symptoms in 22q11. 2 deletion syndrome[J]. Psychiatry Res,2012,196(2/3):277-284.
[30] Stoddard J,Niendam T,Hendren R,et al. Attenuated positive symptoms of psychosis in adolescents with chromosome22q11. 2 deletion syndrome[J]. Schizophr Res,2010,118(1/3):118-121.
[31] Rockers K,Ousley O,Sutton T,et al. Performance on the modified card sorting test and its relation to psychopathology in adolescents and young adults with 22q11. 2 deletion syndrome[J]. J Intellect Disabil Res,2009,53(7):665-676.
[32] Shapiro DI,Cubells JF,Ousley OY,et al. Prodromal symptoms in adolescents with 22q11. 2 deletion syndrome and schizotypal personality disorder[J]. Schizophr Res,2011,129(1):20-28.
[33] Tang SX,Yi JJ,Calkins ME,et al. Psychiatric disorders in22q11. 2 deletion syndrome are prevalent but undertreated[J]. Psychol Med,2014,44(6):1 267-1 277.
[34] Glatt SJ,Everall IP,Kremen WS,et al. Comparative gene expression analysis of blood and brain provides concurrent validation of Selenbp 1 up-regulation in schizophrenia[J].Proc Natl Acad Sci U S A,2005,102(43):15 533-15 538.
[35] Kiss I,Kelemen O,Keri S. Decreased peripheral expression of neuregulin 1 in high-risk individuals who later converted to psychosis[J]. Schizophr Res,2012,135(1/3):198-199.
[36] Santoro ML,Gadelha A,Ota VK,et al. Gene expression analysis in blood of ultra-high risk subjects compared to first-episode of psychosis patients and controls[J]. World J Biol Psychiatry,2015,16(6):441-446.
[37] Aberg KA,Mcclay JL,Nerella S,et al. Methylome-wide association study of schizophrenia identifying blood biomarker signatures of environmental insults[J]. JAMA Psychiatry,2014,71(3):255-264.
[38] Kebir O,Chaumette B,Rivollier F,et al. Methylomic changes during conversion to psychosis[J]. Mol Psychiatry,2017,22(4):512-518.
[2] Hou CL,Xiang YT,Wang ZL,et al. Cognitive functioning in individuals at ultra-high risk for psychosis,first-degree relatives of patients with psychosis and patients with first-episode schizophrenia[J]. Schizophr Res,2016,174(1/3):71-76.
[3] Addington J,Cornblatt BA,Cadenhead KS,et al. At clinical high risk for psychosis:outcome for nonconverters[J]. Am J Psychiatry,2011,168(8):800-805.
[4] Hafner H,an der Heiden W. The course of schizophrenia in the light of modern follow-up studies:the ABC and WHO studies[J]. Eur Arch Psychiatry Clin Neurosci,1994,249Suppl 4:14-26.
[5] Modinos G,McGuire P. The prodromal phase of psychosis[J]. Curr Opin Neurobiol,2015,30:100-105.
[6] Fusar-Poli P,Bechdolf A,Taylor MJ,et al. At risk for schizophrenic or affective psychoses? a meta-analysis of DSM/ICD diagnostic outcomes in individuals at high clinical risk[J].Schizophr Bull,2013,39(4):923-932.
[7] Fusar-Poli P,Bonoldi I,Yung AR,et al. Predicting psychosis:meta-analysis of transition outcomes in individuals at high clinical risk[J]. Arch Gen Psychiatry,2012,69(3):220-229.
[8] Cannon TD,Cadenhead K,Cornblatt B,et al. Prediction of psychosis in youth at high clinical risk:a multisite longitudinal study in North America[J]. Arch Gen Psychiatry,2008,65(1):28-37.
[9] Thompson A,Nelson B,Yung A. Predictive validity of clinical variables in the“at risk”for psychosis population:international comparison with results from the North American Prodrome Longitudinal Study[J]. Schizophr Res,2011,126(1/3):51-57.
[10] Velthorst E,Nieman DH,Becker HE,et al. Baseline differences in clinical symptomatology between ultra high risk subjects with and without a transition to psychosis[J]. Schizophr Res,2009,109(1/3):60-65.
[11] Ziermans T,de Wit S,Schothorst P,et al. Neurocognitive and clinical predictors of long-term outcome in adolescents at ultra-high risk for psychosis:a 6-year follow-up[J].PLo S One,2014,9(4):e93994.
[12] Sullivan PF,Kendler KS,Neale MC. Schizophrenia as a complex trait-evidence from a meta-analysis of twin studies[J]. Arch Gen Psychiatry,2003,60(12):1 187-1 192.
[13] Adams HH,Hibar DP,Chouraki V,et al. Novel genetic loci underlying human intracranial volume identified through genome-wide association[J]. Nat Neurosci,2016,19(12):1 569-1 582.
[14]李大伟,顾鸣敏.精神分裂症主要易感基因的研究进展[J].国际遗传学杂志,2012,35(5):283-289.
[15] Rieff HI,Raetzman LT,Sapp DW. Neuregulin induces GABA(A)receptor subunit expression and neurite outgrowth in cerebellar granule cells[J]. J Neurosci,1999,19(24):10 757-10 766.
[16] Ozaki M,Sasner M,Yano R,et al. Neuregulin-beta induces expression of an NMDA-receptor subunit[J] Nature,1997,390(6 661):691-694.
[17]张红星,董召,寇延娜,等. Neuregulin 1基因433E1006及rs3924999位点多态性与精神分裂症关联的meta分析[J].中华行为医学与脑科学杂志,2015,24(12):1 141-1 143.
[18] Hall J,Whalley HC,Job DE,et al. A neuregulin 1 variant associated with abnormal cortical function and psychotic symptoms[J]. Nat Neurosci,2006,9(12):1 477-1 478.
[19] Kéri S,Kiss I,Kelemen O. Effects of a neuregulin 1 variant on conversion to schizophrenia and schizophreniform disorder in People at high risk for psychosis[J]. Mol Psychiatry,2009,14(2):118-119.
[20] Bousman CA,Yung AR,Pantelis C,et al. Effects of NRG1and DAOA genetic variation on transition to psychosis in individuals at ultra-high risk for psychosis[J]. Transl Psychiatry,2013,3:e251.
[21]韩燕,宁启兰,张欢,等.中国汉族男性人群D-氨基酸氧化酶激活剂基因多态性与精神分裂症的关联研究[J].西安交通大学学报(医学版),2010,31(5):600-602.
[22]杨丽,邵静茹,阮冶,等. D-氨基酸氧化酶激活剂基因多态性与精神分裂症的关联研究[J].中华精神科杂志,2011,44(2):70-74.
[23] Korostishevsky M,Kaganovich M,Cholostoy A,et al. Is the G72/G30 locus associated with schizophrenia? Single nucleotide polymorphisms,haplotypes,and gene expression analysis[J]. Biol Psychiatry,2004,56(3):169-176.
[24] Chumakov I,Blumenfeld M,Guerassimenko O,et al. Genetic and physiological data implicating the new human gene G72and the gene for D-amino acid oxidase in schizophrenia[J].Proc Natl Acad Sci U S A,2002,99(21):13 675-13 680.
[25] M9essner R,Schuhmacher A,Wagner M,et al. DAOA/G72predicts the progression of prodromal syndromes to first episode psychosis[J]. Eur Arch Psychiatry Clin Neurosci,2010,260(3):209-215.
[26] Schneider M,DebbanéM,Bassett AS,et al. Psychiatric disorders from childhood to adulthood in 22q112 deletion syndrome:results from the International Consortium on Brain and Behavior in22q11. 2 deletion syndrome[J]. Am J Psychiatry,2014,171(6):627-639.
[27] Armando M,Girardi P,Vicari S,et al. Adolescents at ultra-high risk for psychosis with and without 22q11 deletion syndrome:a comparison of prodromal psychotic symptoms and general functioning[J]. Schizophr Res,2012,139(1/3):151-156.
[28] DebbanéM,Glaser B,David MK,et al. Psychotic symptoms in children and adolescents with 22q11. 2 deletion syndrome:Neuropsychological and behavioral implications[J]. Schizophr Res,2006,84(2/3):187-193.
[29] Schneider M,Van Der Linden M,Glaser B,et al. Preliminary structure and predictive value of attenuated negative symptoms in 22q11. 2 deletion syndrome[J]. Psychiatry Res,2012,196(2/3):277-284.
[30] Stoddard J,Niendam T,Hendren R,et al. Attenuated positive symptoms of psychosis in adolescents with chromosome22q11. 2 deletion syndrome[J]. Schizophr Res,2010,118(1/3):118-121.
[31] Rockers K,Ousley O,Sutton T,et al. Performance on the modified card sorting test and its relation to psychopathology in adolescents and young adults with 22q11. 2 deletion syndrome[J]. J Intellect Disabil Res,2009,53(7):665-676.
[32] Shapiro DI,Cubells JF,Ousley OY,et al. Prodromal symptoms in adolescents with 22q11. 2 deletion syndrome and schizotypal personality disorder[J]. Schizophr Res,2011,129(1):20-28.
[33] Tang SX,Yi JJ,Calkins ME,et al. Psychiatric disorders in22q11. 2 deletion syndrome are prevalent but undertreated[J]. Psychol Med,2014,44(6):1 267-1 277.
[34] Glatt SJ,Everall IP,Kremen WS,et al. Comparative gene expression analysis of blood and brain provides concurrent validation of Selenbp 1 up-regulation in schizophrenia[J].Proc Natl Acad Sci U S A,2005,102(43):15 533-15 538.
[35] Kiss I,Kelemen O,Keri S. Decreased peripheral expression of neuregulin 1 in high-risk individuals who later converted to psychosis[J]. Schizophr Res,2012,135(1/3):198-199.
[36] Santoro ML,Gadelha A,Ota VK,et al. Gene expression analysis in blood of ultra-high risk subjects compared to first-episode of psychosis patients and controls[J]. World J Biol Psychiatry,2015,16(6):441-446.
[37] Aberg KA,Mcclay JL,Nerella S,et al. Methylome-wide association study of schizophrenia identifying blood biomarker signatures of environmental insults[J]. JAMA Psychiatry,2014,71(3):255-264.
[38] Kebir O,Chaumette B,Rivollier F,et al. Methylomic changes during conversion to psychosis[J]. Mol Psychiatry,2017,22(4):512-518.