Associations of schizophrenia risk genes ZNF804A and CACNA1C with schizotypy and modulation of attention in healthy subjects
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Abel, 2010, Sex differences in schizophrenia, Int. Rev. Psychiatry, 22, 417, 10.3109/09540261.2010.515205
Alvarez-Moya, 2007, Exophenotypical profile of adolescents with sustained attention deficit: a 10-year follow-up study, Psychiatry Res., 153, 119, 10.1016/j.psychres.2006.12.021
Axelrod, 2001, Schizotypal personality questionnaire-brief: factor structure and convergent validity in inpatient adolescents, J. Personal. Disord., 15, 168, 10.1521/pedi.15.2.168.19219
Balog, 2011, ZNF804A may be associated with executive control of attention, Genes Brain Behav., 10, 223, 10.1111/j.1601-183X.2010.00657.x
Barrantes-Vidal, 2015, The role of schizotypy in the study of the etiology of schizophrenia spectrum disorders, Schizophr. Bull., 41, S408, 10.1093/schbul/sbu191
Bhat, 2012, CACNA1C (Cav1.2) in the pathophysiology of psychiatric disease, Prog. Neurobiol., 99, 1, 10.1016/j.pneurobio.2012.06.001
Breeze, 2011, Evidence of reduced selective attention in schizotypal personality disorder, J. Clin. Exp. Neuropsychol., 33, 776, 10.1080/13803395.2011.558495
Brickenkamp, 2002
Brosey, 2015, Schizotypy and clinical symptoms, cognitive function, and quality of life in individuals with a psychotic disorder, Schizophr. Res., 166, 92, 10.1016/j.schres.2015.04.038
de Castro-Catala, 2017, The genome-wide associated candidate gene ZNF804A and psychosis-proneness: evidence of sex-modulated association, PLoS One, 12, 10.1371/journal.pone.0185072
Chang, 2015, Second-generation PLINK: rising to the challenge of larger and richer datasets, Gigascience, 4, 7, 10.1186/s13742-015-0047-8
Chang, 2017, The schizophrenia risk gene ZNF804A: clinical associations, biological mechanisms and neuronal functions, Mol. Psychiatry, 22, 944, 10.1038/mp.2017.19
Chapman, 1994, Putatively psychosis-prone subjects 10 years later, J. Abnorm. Psychol., 103, 171, 10.1037/0021-843X.103.2.171
Chen, 2000, Sustained attention deficits as markers of genetic susceptibility to schizophrenia, Am. J. Med. Genet., 97, 52, 10.1002/(SICI)1096-8628(200021)97:1<52::AID-AJMG7>3.0.CO;2-6
Clarke, 2010, Aspects of observing and claiming allele flips in association studies, Genet. Epidemiol., 34, 266
Compton, 2009, An examination of the factorial structure of the schizotypal personality questionnaire-brief (SPQ-B) among undergraduate students, Schizophr. Res., 115, 286, 10.1016/j.schres.2009.04.012
Craddock, 2009, Psychosis genetics: modeling the relationship between schizophrenia, bipolar disorder, and mixed (or "schizoaffective") psychoses, Schizophr. Bull., 35, 482, 10.1093/schbul/sbp020
Cross-Disorder Group of the Psychiatric Genomics Consortium, 2013, Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis, Lancet, 381, 1371, 10.1016/S0140-6736(12)62129-1
Dedic, 2018, Cross-disorder risk gene CACNA1C differentially modulates susceptibility to psychiatric disorders during development and adulthood, Mol. Psychiatry, 23, 533, 10.1038/mp.2017.133
Dietsche, 2014, The impact of a CACNA1C gene polymorphism on learning and hippocampal formation in healthy individuals: a diffusion tensor imaging study, Neuroimage, 89, 256, 10.1016/j.neuroimage.2013.11.030
Dodell-Feder, 2019, The network structure of schizotypal personality traits in a population-based sample, Schizophr. Res., 10.1016/j.schres.2019.01.046
Donohoe, 2011, ZNF804A risk allele is associated with relatively intact gray matter volume in patients with schizophrenia, Neuroimage, 54, 2132, 10.1016/j.neuroimage.2010.09.089
Elvevåg, 2000, Cognitive impairment in schizophrenia is the core of the disorder, Crit. Rev. Neurobiol., 14, 21, 10.1615/CritRevNeurobiol.v14.i1.10
Erk, 2010, Brain function in carriers of a genome-wide supported bipolar disorder variant, Arch. Gen. Psychiatry, 67, 803, 10.1001/archgenpsychiatry.2010.94
Esslinger, 2009, Neural mechanisms of a genome-wide supported psychosis variant, Science, 324, 605, 10.1126/science.1167768
Ettinger, U., Joober, R., DE Guzman, R., O'Driscoll, G.A., 2006. Schizotypy, attention deficit hyperactivity disorder, and dopamine genes. Psychiatry Clin. Neurosci. 60, 764–767. doi:https://doi.org/10.1111/j.1440-1819.2006.01594.x.
Ettinger, 2015, Cognition and brain function in Schizotypy: a selective review, Schizophr. Bull., 41, S417, 10.1093/schbul/sbu190
Ferreira, 2008, Nat. Genet., 40, 1056, 10.1038/ng.209
Fink, 2014, Creativity and schizotypy from the neuroscience perspective, Cogn. Affect. Behav. Neurosci., 14, 378, 10.3758/s13415-013-0210-6
Fonseca-Pedrero, 2018, Brief assessment of schizotypal traits: a multinational study, Schizophr. Res., 197, 182, 10.1016/j.schres.2017.10.043
Fuggetta, 2015, An electrophysiological insight into visual attention mechanisms underlying schizotypy, Biol. Psychol., 109, 206, 10.1016/j.biopsycho.2015.06.007
Girgenti, 2012, ZNF804a regulates expression of the schizophrenia-associated genes PRSS16, COMT, PDE4B, and DRD2, PLoS One, 7, 10.1371/journal.pone.0032404
Godar, 2014, Gene-sex interactions in schizophrenia: focus on dopamine neurotransmission, Front. Behav. Neurosci., 8, 71, 10.3389/fnbeh.2014.00071
Gooding, 2005, Clinical status of at-risk individuals 5 years later: further validation of the psychometric high-risk strategy, J. Abnorm. Psychol., 114, 170, 10.1037/0021-843X.114.1.170
Gooding, 2006, Sustained attention deficits in relation to psychometrically identified schizotypy: evaluating a potential endophenotypic marker, Schizophr. Res., 82, 27, 10.1016/j.schres.2005.11.015
Grant, 2014, Psychosis-proneness correlates with expression levels of dopaminergic genes, Eur. Psychiatry, 29, 304, 10.1016/j.eurpsy.2013.12.002
Guella, 2014, Allelic imbalance associated with the schizophrenia risk SNP rs1344706 indicates a cis-acting variant in ZNF804A, Schizophr. Res., 153, 243, 10.1016/j.schres.2014.01.005
Hargreaves, 2012, ZNF804A and social cognition in patients with schizophrenia and healthy controls, Mol. Psychiatry, 17, 118, 10.1038/mp.2011.102
Hatzimanolis, 2018, Stress-dependent association between polygenic risk for schizophrenia and schizotypal traits in young army recruits, Schizophr. Bull., 44, 338, 10.1093/schbul/sbx074
Hayes, 2013
Heilbronner, 2015, A common risk variant in CACNA1C supports a sex-dependent effect on longitudinal functioning and functional recovery from episodes of schizophrenia-spectrum but not bipolar disorder, Eur. Neuropsychopharmacol., 25, 2262, 10.1016/j.euroneuro.2015.09.012
Hill, 2011, Allelic differences in nuclear protein binding at a genome-wide significant risk variant for schizophrenia in ZNF804A, Mol. Psychiatry, 16, 787, 10.1038/mp.2011.21
Hill, 2012, Evidence that schizophrenia risk variation in the ZNF804A gene exerts its effects during fetal brain development, Am. J. Psychiatry, 169, 1301, 10.1176/appi.ajp.2012.11121845
Hill, 2008, Neurocognitive allied phenotypes for schizophrenia and bipolar disorder, Schizophr. Bull., 34, 743, 10.1093/schbul/sbn027
Holm, 1979, A simple sequentially Rejective multiple test procedure, Scand. J. Stat.
Howes, 2009, The dopamine hypothesis of schizophrenia: version III--the final common pathway, Schizophr. Bull., 35, 549, 10.1093/schbul/sbp006
Jiang, 2015, Evaluating the association between CACNA1C rs1006737 and schizophrenia risk: a meta-analysis, Asia Pac. Psychiatry, 7, 260, 10.1111/appy.12173
Jones, 2016, Phenotypic manifestation of genetic risk for schizophrenia during adolescence in the general population, JAMA Psychiat., 73, 221, 10.1001/jamapsychiatry.2015.3058
Kircher, 2018, Neurobiology of the major psychoses: a translational perspective on brain structure and function-the FOR2107 consortium, Eur. Arch. Psychiatry Clin. Neurosci.
Klein, 1997, Erfassung der schizotypen Persönlichkeit nach DSM-II-R: Psychometrische Eigenschaften einer autorisierten deutschsprachigen Übersetzung des “Schizotypal Personality Questionnaire” (SPQ) von Raine, Diagnostica, 43, 347
Klein, 2001, Konstruktvalidierung der deutschsprachigen Adaptation des Schizotypal Personality Questionnaires (SPQ) von Raine (1991), 349
Kremen, 1998, Sex differences in self-reported schizotypal traits in relatives of schizophrenic probands, Schizophr. Res., 34, 27, 10.1016/S0920-9964(98)00081-4
Krug, 2014, A genome-wide supported variant in CACNA1C influences hippocampal activation during episodic memory encoding and retrieval, Eur. Arch. Psychiatry Clin. Neurosci., 264, 103, 10.1007/s00406-013-0428-x
Kwapil, 2013, Prediction of psychopathology and functional impairment by positive and negative schizotypy in the Chapmans' ten-year longitudinal study, J. Abnorm. Psychol., 122, 807, 10.1037/a0033759
Lee, 2017, Test–retest reliability and minimal detectable change of the D2 test of attention in patients with schizophrenia, Arch. Clin. Neuropsychol., 19
Lehrl, 1995
Lencz, 2010, A schizophrenia risk gene, ZNF804A, influences neuroanatomical and neurocognitive phenotypes, Neuropsychopharmacology, 35, 2284, 10.1038/npp.2010.102
Lufi, 2015, The effect of age on attention level, Int. J. Aging Hum. Dev., 81, 176, 10.1177/0091415015614953
Machiela, 2015, LDlink: a web-based application for exploring population-specific haplotype structure and linking correlated alleles of possible functional variants, Bioinformatics, 31, 3555, 10.1093/bioinformatics/btv402
Mohr, 2015, Schizotypy - do not worry, it is not all worrisome, Schizophr. Bull., 41, 436, 10.1093/schbul/sbu185
Mohr, 2014, An overview of the association between Schizotypy and dopamine, Front. Psychiatry, 5, 10.3389/fpsyt.2014.00184
Moon, 2018, CACNA1C: association with psychiatric disorders, behavior, and neurogenesis, Schizophr. Bull., 44, 958, 10.1093/schbul/sby096
Moreno-Samaniego, 2017, Schizotypal traits and cognitive performance in siblings of patients with psychosis, Psychiatry Res., 258, 551, 10.1016/j.psychres.2017.09.007
Nenadic, 2015, ZNF804A genetic variation (rs1344706) affects brain grey but not white matter in schizophrenia and healthy subjects, Psychol. Med., 45, 143, 10.1017/S0033291714001159
Nettle, 2006, Schizotypy, creativity and mating success in humans, Proc. R. Soc. B Biol. Sci., 273, 611, 10.1098/rspb.2005.3349
Nieratschker, 2015, CACNA1C risk variant affects facial emotion recognition in healthy individuals, Sci. Rep., 5, 10.1038/srep17349
Nuechterlein, 2004, Identification of separable cognitive factors in schizophrenia, Schizophr. Res., 72, 29, 10.1016/j.schres.2004.09.007
O'Donovan, 2008, Identification of loci associated with schizophrenia by genome-wide association and follow-up, Nat. Genet., 40, 1053, 10.1038/ng.201
Pardiñas, A.F., Holmans, P., Pocklington, A.J., Escott-Price, V., Ripke, S., Carrera, N., Legge, S.E., Bishop, S., Cameron, D., Hamshere, M.L., Han, J., Hubbard, L., Lynham, A., Mantripragada, K., Rees, E., MacCabe, J.H., McCarroll, S.A., Baune, B.T., Breen, G., Byrne, E.M., Dannlowski, U., Eley, T.C., Hayward, C., Martin, N.G., McIntosh, A.M., Plomin, R., Porteous, D.J., Wray, N.R., Caballero, A., Geschwind, D.H., Huckins, L.M., Ruderfer, D.M., Santiago, E., Sklar, P., Stahl, E.A., Won, H., Agerbo, E., Als, T.D., Andreassen, O.A., Bækvad-Hansen, M., Mortensen, P.B., Pedersen, C.B., Børglum, A.D., Bybjerg-Grauholm, J., Djurovic, S., Durmishi, N., Pedersen, M.G., Golimbet, V., Grove, J., Hougaard, D.M., Mattheisen, M., Molden, E., Mors, O., Nordentoft, M., Pejovic-Milovancevic, M., Sigurdsson, E., Silagadze, T., Hansen, C.S., Stefansson, K., Stefansson, H., Steinberg, S., Tosato, S., Werge, T., GERAD1 Consortium: D.A., CRESTAR Consortium:, D. Collier, D.A. Rujescu, D. Kirov, G. Owen, M.J. O'Donovan, M.C. Walters, J.T.R., GERAD1 Consortium, CRESTAR Consortium, GERAD1 Consortium, CRESTAR Consortium, 2018. Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection. Nat. Genet. 50, 381–389. doi: https://doi.org/10.1038/s41588-018-0059-2.
Paulus, 2013, Partial support for ZNF804A genotype-dependent alterations in prefrontal connectivity, Hum. Brain Mapp., 34, 304, 10.1002/hbm.21434
Purcell, S., Chang, C., n.d. PLINK v1.9.
R Core Team, 2018
Raine, 1991, The SPQ: a scale for the assessment of schizotypal personality based on DSM-III-R criteria, Schizophr. Bull., 17, 555, 10.1093/schbul/17.4.555
Raine, 1992, Sex differences in schizotypal personality in a nonclinical population, J. Abnorm. Psychol., 101, 361, 10.1037/0021-843X.101.2.361
Raine, 1995, The SPQ-B: a brief screening instrument for schizotypal personality disorder, J. Personal. Disord., 9, 346, 10.1521/pedi.1995.9.4.346
Riley, 2010, Replication of association between schizophrenia and ZNF804A in the Irish case-control study of schizophrenia sample, Mol. Psychiatry, 15, 29, 10.1038/mp.2009.109
Ripke, S., O'Dushlaine, C., Chambert, K., Moran, J.L., Kähler, A.K., Akterin, S., Bergen, S.E., Collins, A.L., Crowley, J.J., Fromer, M., Kim, Y., Lee, S.H., Magnusson, P.K.E., Sanchez, N., Stahl, E.A., Williams, S., Wray, N.R., Xia, K., Bettella, F., Borglum, A.D., Bulik-Sullivan, B.K., Cormican, P., Craddock, N., de Leeuw, C., Durmishi, N., Gill, M., Golimbet, V., Hamshere, M.L., Holmans, P., Hougaard, D.M., Kendler, K.S., Lin, K., Morris, D.W., Mors, O., Mortensen, P.B., Neale, B.M., O'Neill, F.A., Owen, M.J., Milovancevic, M.P., Posthuma, D., Powell, J., Richards, A.L., Riley, B.P., Ruderfer, D., Rujescu, D., Sigurdsson, E., Silagadze, T., Smit, A.B., Stefansson, H., Steinberg, S., Suvisaari, J., Tosato, S., Verhage, M., Walters, J.T., Bramon, E., Corvin, A.P., O'Donovan, M.C., Stefansson, K., Scolnick, E., Purcell, S., McCarroll, S.A., Sklar, P., Hultman, C.M., Sullivan, P.F., Schwab, S.G., Wildenauer, D.B., Dudbridge, F., Holmans, P., Shi, J., Albus, M., Alexander, M., Campion, D., Cohen, D., Dikeos, D., Duan, J., Eichhammer, P., Godard, S., Hansen, M., Lerer, F.B., Liang, K.-Y., Maier, W., Mallet, J., Nertney, D.A., Nestadt, G., Norton, N., O'Neill, F.A., Papadimitriou, G.N., Ribble, R., Sanders, A.R., Silverman, J.M., Walsh, D., Williams, N.M., Wormley, B., Psychosis Endophenotypes International Consortium, Arranz, M.J., Bakker, S., Bender, S., Bramon, E., Collier, D., Crespo-Facorro, B., Hall, J., Iyegbe, C., Jablensky, A., Kahn, R.S., Kalaydjieva, L., Lawrie, S., Lewis, C.M., Lin, K., Linszen, D.H., Mata, I., McIntosh, A., Murray, R.M., Ophoff, R.A., Powell, J., Rujescu, D., Van Os, J., Walshe, M., Weisbrod, M., Wiersma, D., Wellcome Trust Case Control Consortium 2, Donnelly, P., Barroso, I., Blackwell, J.M., Bramon, E., Brown, M.A., Casas, J.P., Corvin, A.P., Deloukas, P., Duncanson, A., Jankowski, J., Markus, H.S., Mathew, C.G., Palmer, C.N.A., Plomin, R., Rautanen, A., Sawcer, S.J., Trembath, R.C., Viswanathan, A.C., Wood, N.W., Spencer, C.C.A., Band, G., Bellenguez, C., Freeman, C., Hellenthal, G., Giannoulatou, E., Pirinen, M., Pearson, R.D., Strange, A., Su, Z., Vukcevic, D., Donnelly, P., Langford, C., Hunt, S.E., Edkins, S., Gwilliam, R., Blackburn, H., Bumpstead, S.J., Dronov, S., Gillman, M., Gray, E., Hammond, N., Jayakumar, A., McCann, O.T., Liddle, J., Potter, S.C., Ravindrarajah, R., Ricketts, M., Tashakkori-Ghanbaria, A., Waller, M.J., Weston, P., Widaa, S., Whittaker, P., Barroso, I., Deloukas, P., Mathew, C.G., Blackwell, J.M., Brown, M.A., Corvin, A.P., McCarthy, M.I., Spencer, C.C.A., Bramon, E., Corvin, A.P., O'Donovan, M.C., Stefansson, K., Scolnick, E., Purcell, S., McCarroll, S.A., Sklar, P., Hultman, C.M., Sullivan, P.F., 2013. Genome-wide association analysis identifies 13 new risk loci for schizophrenia. Nat. Genet. 45, 1150–1159. doi:https://doi.org/10.1038/ng.2742.
Roussos, 2011, The CACNA1C and ANK3 risk alleles impact on affective personality traits and startle reactivity but not on cognition or gating in healthy males, Bipolar Disord., 13, 250, 10.1111/j.1399-5618.2011.00924.x
Roussos, 2013, CACNA1C as a risk factor for schizotypal personality disorder and schizotypy in healthy individuals, Psychiatry Res., 206, 122, 10.1016/j.psychres.2012.08.039
Ruderfer, 2014, Polygenic dissection of diagnosis and clinical dimensions of bipolar disorder and schizophrenia, Mol. Psychiatry, 19, 1017, 10.1038/mp.2013.138
Schultz, 2014, ZNF804A and cortical structure in schizophrenia: in vivo and postmortem studies, Schizophr. Bull., 40, 532, 10.1093/schbul/sbt123
Sheldrick, 2008, Effect of COMT val158met genotype on cognition and personality, Eur. Psychiatry, 23, 385, 10.1016/j.eurpsy.2008.05.002
Siddi, 2017, Neuropsychological correlates of schizotypy: a systematic review and meta-analysis of cross-sectional studies, Cogn. Neuropsychiatry, 22, 186, 10.1080/13546805.2017.1299702
Smyrnis, 2007, Effect of schizotypy on cognitive performance and its tuning by COMT val158 met genotype variations in a large population of young men, Biol. Psychiatry, 61, 845, 10.1016/j.biopsych.2006.07.019
Snitz, 2005, Cognitive deficits in unaffected first-degree relatives of schizophrenia patients: a meta-analytic review of putative endophenotypes, Schizophr. Bull., 32, 179, 10.1093/schbul/sbi048
Soeiro-de-Souza, 2012, The impact of the CACNA1C risk allele on limbic structures and facial emotions recognition in bipolar disorder subjects and healthy controls, J. Affect. Disord., 141, 94, 10.1016/j.jad.2012.03.014
Stefanis, 2013, Variation in psychosis gene ZNF804A is associated with a refined schizotypy phenotype but not neurocognitive performance in a large young male population, Schizophr. Bull., 39, 1252, 10.1093/schbul/sbs110
Stotesbury, 2018, The influence of schizotypal traits on attention under high perceptual load, Schizophr. Res. Cogn., 11, 6, 10.1016/j.scog.2017.10.002
Strohmaier, 2013, The psychiatric vulnerability gene CACNA1C and its sex-specific relationship with personality traits, resilience factors and depressive symptoms in the general population, Mol. Psychiatry, 18, 607, 10.1038/mp.2012.53
Sun, 2015, Association between variants of zinc finger genes and psychiatric disorders: systematic review and meta-analysis, Schizophr. Res., 162, 124, 10.1016/j.schres.2015.01.036
Tesli, 2013, CACNA1C risk variant and amygdala activity in bipolar disorder, schizophrenia and healthy controls, PLoS One, 8, 10.1371/annotation/3b96507c-056e-4317-8234-de84b2b8113b
Thimm, 2011, Effects of a CACNA1C genotype on attention networks in healthy individuals, Psychol. Med., 41, 1551, 10.1017/S0033291710002217
Toulopoulou, 2007, Substantial genetic overlap between neurocognition and schizophrenia, Arch. Gen. Psychiatry, 64, 1348, 10.1001/archpsyc.64.12.1348
Toulopoulou, 2015, Reciprocal causation models of cognitive vs volumetric cerebral intermediate phenotypes for schizophrenia in a pan-European twin cohort, Mol. Psychiatry, 20, 1386, 10.1038/mp.2014.152
Toulopoulou, 2018, Polygenic risk score increases schizophrenia liability through cognition-relevant pathways, Brain, 1
Van Den Bossche, 2012, Less cognitive and neurological deficits in schizophrenia patients carrying risk variant in ZNF804A, Neuropsychobiology, 66, 158, 10.1159/000339731
Voineskos, 2011, The ZNF804A gene: characterization of a novel neural risk mechanism for the major psychoses, Neuropsychopharmacology, 36, 1871, 10.1038/npp.2011.72
Walters, 2010, Psychosis susceptibility gene ZNF804A and cognitive performance in schizophrenia, Arch. Gen. Psychiatry, 67, 692, 10.1001/archgenpsychiatry.2010.81
Williams, H.J., Norton, N., Dwyer, S., Moskvina, V., Nikolov, I., Carroll, L., Georgieva, L., Williams, N.M., Morris, D.W., Quinn, E.M., Giegling, I., Ikeda, M., Wood, J., Lencz, T., Hultman, C., Lichtenstein, P., Thiselton, D., Maher, B.S., Malhotra, A.K., Riley, B., Kendler, K.S., Gill, M., Sullivan, P., Sklar, P., Purcell, S., Nimgaonkar, V.L., Kirov, G., Holmans, P., Corvin, A., Rujescu, D., Craddock, N., Owen, M.J., O'Donovan, M.C., O'Donovan, M.C., 2011. Fine mapping of ZNF804A and genome-wide significant evidence for its involvement in schizophrenia and bipolar disorder. Mol. Psychiatry 16, 429–441. doi:https://doi.org/10.1038/mp.2010.36.
Wittchen, 1997
Yasuda, 2011, Impact on schizotypal personality trait of a genome-wide supported psychosis variant of the ZNF804A gene, Neurosci. Lett., 495, 216, 10.1016/j.neulet.2011.03.069
Zhang, 2011, Evidence of sex-modulated association of ZNF804A with schizophrenia, Biol. Psychiatry, 69, 914, 10.1016/j.biopsych.2011.01.003
Zhang, 2012, The effects of CACNA1C gene polymorphism on spatial working memory in both healthy controls and patients with schizophrenia or bipolar disorder, Neuropsychopharmacology, 37, 677, 10.1038/npp.2011.242
