A new look at the genetics of neurocognitive deficits in schizophrenia

Fedorenko O.Yu.; Ivanova S.A.

doi:https://doi.org/10.17116/jnevro2020120081183

References:

Loch AA. Schizophrenia, Not a Psychotic Disorder: Bleuler Revisited. Front Psychiatry. 2019;10:328. eCollection 2019. https://doi.org/10.3389/fpsyt.2019.00328
Keefe RS, Eesley CE, Poe MP. Defining a cognitive function decrement in schizophrenia. Biol Psychiatry. 2005;57(6):688-691. https://doi.org/10.1016/j.biopsych.2005.01.003
Cannon TD, Huttunen MO, Lonnqvist J, Tuulio-Henriksson A, Pirkola T, Glahn D, Finkelstein J, Hietanen M, Kaprio J, Koskenvuo M. The inheritance of neuropsychological dysfunction in twins discordant for schizophrenia. Am J Hum Genet. 2000;67(2):369-382. https://doi.org/10.1086/303006
Toulopoulou T, Picchioni M, Rijsdijk F, Hua-Hall M, Ettinger U, Sham P, Murray R. Substantial genetic overlap between neurocognition and schizophrenia: genetic modeling in twin samples. Arch Gen Psychiatry. 2007; 64(12):1348-1355. https://doi.org/10.1001/archpsyc.64.12.1348
Lencz T, Knowles E, Davies G, Guha S, Liewald DC, Starr JM, Djurovic S, Melle I, Sundet K, Christoforou A, Reinvang I, Mukherjee S, DeRosse P, Lundervold A, Steen VM, John M, Espeseth T, Räikkönen K, Widen E, Palotie A, Eriksson JG, Giegling I, Konte B, Ikeda M, Roussos P, Giakoumaki S, Burdick KE, Payton A, Ollier W, Horan M, Donohoe G, Morris D, Corvin A, Gill M, Pendleton N, Iwata N, Darvasi A, Bitsios P, Rujescu D, Lahti J, Hellard SL, Keller MC, Andreassen OA, Deary IJ, Glahn DC, Malhotra AK. Molecular genetic evidence for overlap between general cognitive ability and risk for schizophrenia: a report from the Cognitive Genomics consorTium (COGENT). Mol Psychiatry. 2014;19(2):168-174. https://doi.org/10.1038/mp.2013.166
Fernandes CP, Christoforou A, Giddaluru S, Ersland KM, Djurovic S, Mattheisen M, Lundervold AJ, Reinvang I, Nöthen MM, Rietschel M, Ophoff RA; Genetic Risk and Outcome of Psychosis (GROUP), Hofman A, Uitterlinden AG, Werge T, Cichon S, Espeseth T, Andreassen OA, Steen VM, Le Hellard S. A genetic deconstruction of neurocognitive traits in schizophrenia and bipolar disorder. PLoS One. 2013;8(12):e81052. eCollection 2013. https://doi.org/10.1371/journal.pone.0081052
Ohi K, Sumiyoshi C, Fujino H, Yasuda Y, Yamamori H, Fujimoto M, Shiino T, Sumiyoshi T, Hashimoto R. Genetic Overlap between General Cognitive Function and Schizophrenia: A Review of Cognitive GWASs. Int J Mol Sci. 2018;19(12). pii: E3822. https://doi.org/10.3390/ijms19123822
Wiener H, Klei L, Calkins M, Wood J, Nimgaonkar V, Gur R, Bradford LD, Richard J, Edwards N, Savage R, Kwentus J, Allen T, McEvoy J, Santos A, Gur R, Devlin B, Go R. Principal components of heritability from neurocognitive domains differ between families with schizophrenia and control subjects. Schizophr Bull. 2013;39(2):464-471. https://doi.org/10.1093/schbul/sbr161
Zai G, Robbins TW, Sahakian BJ, Kennedy JL. A review of molecular genetic studies of neurocognitive deficits in schizophrenia. Neurosci Biobehav Rev. 2017;72:50-67. https://doi.org/10.1016/j.neubiorev.2016.10.024
Carrera N, Arrojo M, Paz E, Ramos-Ríos R, Agra S, Páramo M, Brenlla J, Costas J. Testing the antagonistic pleiotropy model of schizophrenia susceptibility by analysis of DAOA, PPP1R1B, and APOL1 genes. Psychiatry Res. 2010;179(2):126-129. https://doi.org/10.1016/j.psychres.2009.05.014
Loch AA, van de Bilt MT, Bio DS, Prado CM, de Sousa RT, Valiengo LL, Moreno RA, Zanetti MV, Gattaz WF. Epistasis between COMT Val158Met and DRD3 Ser9Gly polymorphisms and cognitive function in schizophrenia: genetic influence on dopamine transmission. Braz J Psychiatry. 2015; 37(3):235-241. https://doi.org/10.1590/1516-4446-2014-1553
Kukshal P, Kodavali VC, Srivastava V, Wood J, McClain L, Bhatia T, Bhagwat AM, Deshpande SN, Nimgaonkar VL, Thelma BK. Dopaminergic gene polymorphisms and cognitive function in a north Indian schizophrenia cohort. J Psychiatr Res. 2013;47(11):1615-1622. https://doi.org/10.1016/j.jpsychires.2013.07.007
Barnett JH, Jones PB, Robbins TW, Müller U. Effects of the catechol-O-methyltransferase Val158Met polymorphism on executive function: a meta-analysis of the Wisconsin Card Sort Test in schizophrenia and healthy controls. Mol Psychiatry. 2007;12(5):502-509. https://doi.org/10.1038/sj.mp.4001973
Bosia M, Bechi M, Marino E, Anselmetti S, Poletti S, Cocchi F, Smeraldi E, Cavallaro R. Influence of catechol-O-methyltransferase Val158Met polymorphism on neuropsychological and functional outcomes of classical rehabilitation and cognitive remediation in schizophrenia. Neurosci Lett. 2007;417(3):271-274. https://doi.org/10.1016/j.neulet.2007.02.076
Galderisi S, Maj M, Kirkpatrick B, Piccardi P, Mucci A, Invernizzi G, Rossi A, Pini S, Vita A, Cassano P, Stratta P, Severino G, Del Zompo M. Catechol-O-methyltransferase Val158Met polymorphism in schizophrenia: associations with cognitive and motor impairment. Neuropsychobiology. 2005;52(2):83-89. https://doi.org/10.1159/000087096
Goldberg TE, Egan MF, Gscheidle T, Coppola R, Weickert T, Kolachana BS, Goldman D, Weinberger DR. Executive subprocesses in working memory: relationship to catechol-O-methyltransferase Val158Met genotype and schizophrenia. Arch Gen Psychiatry. 2003;60(9):889-896. https://doi.org/10.1001/archpsyc.60.9.889
Golimbet V, Gritsenko I, Alfimova M, Lebedeva I, Lezheiko T, Abramova L, Kaleda V, Ebstein R. Association study of COMT gene Val158Met polymorphism with auditory P300 and performance on neurocognitive tests in patients with schizophrenia and their relatives. World J Biol Psychiatry. 2006;7(4):238-245. https://doi.org/10.1080/15622970600670970
Nolan KA, Bilder RM, Lachman HM, Volavka J. Catechol O-methyltransferase Val158Met polymorphism in schizophrenia: differential effects of Val and Met alleles on cognitive stability and flexibility. Am J Psychiatry. 2004;161(2):359-361. https://doi.org/10.1176/appi.ajp.161.2.359
Rybakowski JK, Borkowska A, Czerski PM, Dmitrzak-Weglarz M, Skibinska M, Kapelski P, Hauser J. Performance on the Wisconsin Card Sorting Test in schizophrenia and genes of dopaminergic inactivation (COMT, DAT, NET). Psychiatry Res. 2006;143(1):13-19. https://doi.org/10.1016/j.psychres.2005.10.008
Szöke A, Schürhoff F, Méary A, Mathieu F, Chevalier F, Trandafir A, Alter C, Roy I, Bellivier F, Leboyer M. Lack of influence of COMT and NET genes variants on executive functions in schizophrenic and bipolar patients, their first-degree relatives and controls. Am J Med Genet B Neuropsychiatr Genet. 2006;141B(5):504-512. https://doi.org/10.1002/ajmg.b.30352
Alfimova MV, Golimbet VE, Korovaĭtseva GI, Aksenova EV, Lezheiko TV, Abramova LI, Kolesina NIu, Anua IM, Savel’eva TM. Association of the COMT and DRD2 Genes with the Ability of Schizophrenia Patients to Understand the Mental State of Other People. Neuroscience and Behavioral Physiology. 2015;45(1):12-18. https://doi.org/10.1007/s11055-014-0034-z
Golimbet VE, Alfimova MV, Gritsenko IK, Lezheiko TV, Ebstein R. Association of dopamine receptor D5 gene polymorphism with peculiarities of voluntary attention in schizophrenic patients and their relatives. Bull Exp Biol Med. 2008;145(1):65-67. https://doi.org/10.1007/s10517-008-0007-8
Nkam I, Ramoz N, Breton F, Mallet J, Gorwood P, Dubertret C. Impact of DRD2/ANKK1 and COMT Polymorphisms on Attention and Cognitive Functions in Schizophrenia. PLoS One. 2017;12(1):e0170147. eCollection 2017. https://doi.org/10.1371/journal.pone.0170147
Quintana C, Beaulieu JM. A fresh look at cortical dopamine D2 receptor expressing neurons. Pharmacol Res. 2019;139:440-445. https://doi.org/10.1016/j.phrs.2018.12.001
Malhotra AK, Kestler LJ, Mazzanti C, Bates JA, Goldberg T, Goldman D. A functional polymorphism in the COMT gene and performance on a test of prefrontal cognition. Am J Psychiatry. 2002;159(4):652-654. https://doi.org/10.1176/appi.ajp.159.4.652
Greenwood TA, Lazzeroni LC, Murray SS, Cadenhead KS, Calkins ME, Dobie DJ, Green MF, Gur RE, Gur RC, Hardiman G, Kelsoe JR, Leonard S, Light GA, Nuechterlein KH, Olincy A, Radant AD, Schork NJ, Seidman LJ, Siever LJ, Silverman JM, Stone WS, Swerdlow NR, Tsuang DW, Tsuang MT, Turetsky BI, Freedman R, Braff DL. Analysis of 94 candidate genes and 12 endophenotypes for schizophrenia from the Consortium on the Genetics of Schizophrenia. Am J Psychiatry. 2011;168(9):930-946. https://doi.org/10.1176/appi.ajp.2011.10050723
Twamley EW, Hua JP, Burton CZ, Vella L, Chinh K, Bilder RM, Kelsoe JR. Effects of COMT genotype on cognitive ability and functional capacity in individuals with schizophrenia. Schizophr Res. 2014;159(1):114-117. https://doi.org/10.1016/j.schres.2014.07.041
Szekeres G, Kéri S, Juhász A, Rimanóczy A, Szendi I, Czimmer C, Janka Z. Role of dopamine D3 receptor (DRD3) and dopamine transporter (DAT) polymorphism in cognitive dysfunctions and therapeutic response to atypical antipsychotics in patients with schizophrenia. Am J Med Genet B Neuropsychiatr Genet. 2004;124B(1):1-5. https://doi.org/10.1002/ajmg.b.20045
Klaus K, Butler K, Durrant SJ, Ali M, Inglehearn CF, Hodgson TL, Gutierrez H, Pennington K. The effect of COMT Val158Met and DRD2 C957T polymorphisms on executive function and the impact of early life stress. Brain Behav. 2017;7(5):e00695. eCollection 2017. https://doi.org/10.1002/brb3.695
Golimbet VE, Garakh ZV, Zaytseva Y, Alfimova MV, Lezheiko TV, Kondratiev NV, Shmukler AB, Gurovich IY, Strelets VB. The Dopamine Receptor D2 C957T Polymorphism Modulates Early Components of Event-Related Potentials in Visual Word Recognition Task. Neuropsychobiology. 2017;76(3):143-150. https://doi.org/10.1159/000489712
Bombin I, Arango C, Mayoral M, Castro-Fornieles J, Gonzalez-Pinto A, Gonzalez-Gomez C, Moreno D, Parellada M, Baeza I, Graell M, Otero S, Saiz PA, Patiño-Garcia A. DRD3, but not COMT or DRD2, genotype affects executive functions in healthy and first-episode psychosis adolescents. Am J Med Genet B Neuropsychiatr Genet. 2008;147B(6):873-879. https://doi.org/10.1002/ajmg.b.30710
Hui L, Zhang X, Yu YQ, Han M, Huang XF, Chen DC, Wang ZR, Du WL, Kou CG, Yu Q, Kosten TR, Zhang XY. Association between DBH 19 bp insertion/deletion polymorphism and cognition in first-episode schizophrenic patients. Schizophr Res. 2013;147(2-3):236-240. https://doi.org/10.1016/j.schres.2013.04.035
Hashimoto R, Ikeda M, Ohi K, Yasuda Y, Yamamori H, Fukumoto M, Umeda-Yano S, Dickinson D, Aleksic B, Iwase M, Kazui H, Ozaki N, Weinberger DR, Iwata N, Takeda M. Genome-wide association study of cognitive decline in schizophrenia. Am J Psychiatry. 2013;170:683-684. https://doi.org/10.1176/appi.ajp.2013.12091228
Schmitt JA, Wingen M, Ramaekers JG, Evers EA, Riedel WJ. Serotonin and human cognitive performance. Curr Pharm Des. 2006;12(20):2473-2486. https://doi.org/10.2174/138161206777698909
Wingen M, Kuypers KP, Ramaekers JG. The role of 5-HT1a and 5-HT2a receptors in attention and motor control: a mechanistic study in healthy volunteers. Psychopharmacology (Berl). 2007;190(3):391-400. https://doi.org/10.1007/s00213-006-0614-x
Hernandez I, Sokolov BP. Abnormalities in 5-HT2A receptor mRNA expression in frontal cortex of chronic elderly schizophrenics with varying histories of neuroleptic treatment. J Neurosci Res. 2000;59(2):218-225. https://doi.org/10.1002/(sici)1097-4547(20000115)59:2<218::aid-jnr8>3.0.co;2-h "> 3.0.co;2-h" target="_blank">https://doi.org/10.1002/(sici)1097-4547(20000115)59:2<218::aid-jnr8>3.0.co;2-h
Alfimova MV, Golimbet VE, Mitiushina NG. Polymorphism of the serotonin receptor (5-HTR2A) gene and verbal fluency in normalcy and schizophrenia. Mol Biol (Mosk). 2003;37(1):68-73.
Uçok A, Alpsan H, Cakir S, Saruhan-Direskeneli G. Association of a serotonin receptor 2A gene polymorphism with cognitive functions in patients with schizophrenia. Am J Med Genet B Neuropsychiatr Genet. 2007;144B(5): 704-707. https://doi.org/10.1002/ajmg.b.30463
Blasi G, Selvaggi P, Fazio L, Antonucci LA, Taurisano P, Masellis R, Romano R, Mancini M, Zhang F, Caforio G, Popolizio T, Apud J, Weinberger DR, Bertolino A. Variation in Dopamine D2 and Serotonin 5-HT2A Receptor Genes is Associated with Working Memory Processing and Response to Treatment with Antipsychotics. Neuropsychopharmacology. 2015;40(7): 1600-1608. https://doi.org/10.1038/npp.2015.5
Franke B, Stein JL, Ripke S, Anttila V, Hibar DP, van Hulzen KJE, Arias-Vasquez A, Smoller JW, Nichols TE, Neale MC, McIntosh AM, Lee P, McMahon FJ, Meyer-Lindenberg A, Mattheisen M, Andreassen OA, Gruber O, Sachdev PS, Roiz-Santiañez R, Saykin AJ, Ehrlich S, Mather KA, Turner JA, Schwarz E, Thalamuthu A, Shugart YY, Ho YY, Martin NG, Wright MJ; Schizophrenia Working Group of the Psychiatric Genomics Consortium; ENIGMA Consortium, O’Donovan MC, Thompson PM, Neale BM, Medland SE, Sullivan PF. Genetic influences on schizophrenia and subcortical brain volumes: large-scale proof of concept. Nat Neurosci. 2016; 19(3):420-431. https://doi.org/10.1038/nn.4228
Davies G, Armstrong N, Bis JC, Bressler J, Chouraki V, Giddaluru S, Hofer E, Ibrahim-Verbaas CA, Kirin M, Lahti J, van der Lee SJ, Le Hellard S, Liu T, Marioni RE, Oldmeadow C, Postmus I, Smith AV, Smith JA, Thalamuthu A, Thomson R, Vitart V, Wang J, Yu L, Zgaga L, Zhao W, Boxall R, Harris SE, Hill WD, Liewald DC, Luciano M, Adams H, Ames D, Amin N, Amouyel P, Assareh AA, Au R, Becker JT, Beiser A, Berr C, Bertram L, Boerwinkle E, Buckley BM, Campbell H, Corley J, De Jager PL, Dufouil C, Eriksson JG, Espeseth T, Faul JD, Ford I; Generation Scotland, Gottesman RF, Griswold ME, Gudnason V, Harris TB, Heiss G, Hofman A, Holliday EG, Huffman J, Kardia SL, Kochan N, Knopman DS, Kwok JB, Lambert JC, Lee T, Li G, Li SC, Loitfelder M, Lopez OL, Lundervold AJ, Lundqvist A, Mather KA, Mirza SS, Nyberg L, Oostra BA, Palotie A, Papenberg G, Pattie A, Petrovic K, Polasek O, Psaty BM, Redmond P, Reppermund S, Rotter JI, Schmidt H, Schuur M, Schofield PW, Scott RJ, Steen VM, Stott DJ, van Swieten JC, Taylor KD, Trollor J, Trompet S, Uitterlinden AG, Weinstein G, Widen E, Windham BG, Jukema JW, Wright AF, Wright MJ, Yang Q, Amieva H, Attia JR, Bennett DA, Brodaty H, de Craen AJ, Hayward C, Ikram MA, Lindenberger U, Nilsson LG, Porteous DJ, Räikkönen K, Reinvang I, Rudan I, Sachdev PS, Schmidt R, Schofield PR, Srikanth V, Starr JM, Turner ST, Weir DR, Wilson JF, van Duijn C, Launer L, Fitzpatrick AL, Seshadri S, Mosley TH Jr, Deary IJ. Genetic contributions to variation in general cognitive function: A meta-analysis of genome-wide association studies in the CHARGE consortium (N=53 949). Mol Psychiatry. 2015;20:183-192. https://doi.org/10.1038/mp.2014.188
Davies G, Marioni RE, Liewald DC, Hill WD, Hagenaars SP, Harris SE, Ritchie SJ, Luciano M, Fawns-Ritchie C, Lyall D, Cullen B, Cox SR, Hayward C, Porteous DJ, Evans J, McIntosh AM, Gallacher J, Craddock N, Pell JP, Smith DJ, Gale CR, Deary IJ. Genome-wide association study of cognitive functions and educational attainment in UK Biobank (N=112 151). Mol Psychiatry. 2016;21:758-767. https://doi.org/10.1038/mp.2016.45
Trampush JW, Yang ML, Yu J, Knowles E, Davies G, Liewald DC, Starr JM, Djurovic S, Melle I, Sundet K, Christoforou A, Reinvang I, DeRosse P, Lundervold AJ, Steen VM, Espeseth T, Räikkönen K, Widen E, Palotie A, Eriksson JG, Giegling I, Konte B, Roussos P, Giakoumaki S, Burdick KE, Payton A, Ollier W, Horan M, Chiba-Falek O, Attix DK, Need AC, Cirulli ET, Voineskos AN, Stefanis NC, Avramopoulos D, Hatzimanolis A, Arking DE, Smyrnis N, Bilder RM, Freimer NA, Cannon TD, London E, Poldrack RA, Sabb FW, Congdon E, Conley ED, Scult MA, Dickinson D, Straub RE, Donohoe G, Morris D, Corvin A, Gill M, Hariri AR, Weinberger DR, Pendleton N, Bitsios P, Rujescu D, Lahti J, Le Hellard S, Keller MC, Andreassen OA, Deary IJ, Glahn DC, Malhotra AK, Lencz T. GWAS meta-analysis reveals novel loci and genetic correlates for general cognitive function: A report from the COGENT consortium. Mol Psychiatry. 2017;22:336-345. https://doi.org/10.1038/mp.2016.244
Sniekers S, Stringer S, Watanabe K, Jansen PR, Coleman JRI, Krapohl E, Taskesen E, Hammerschlag AR, Okbay A, Zabaneh D, Amin N, Breen G, Cesarini D, Chabris CF, Iacono WG, Ikram MA, Johannesson M, Koellinger P, Lee JJ, Magnusson PKE, McGue M, Miller MB, Ollier WER, Payton A, Pendleton N, Plomin R, Rietveld CA, Tiemeier H, van Duijn CM, Posthuma D. Genome-wide association meta-analysis of 78,308 individuals identifies new loci and genes influencing human intelligence. Nat Genet. 2017;49:1107-1112. https://doi.org/10.1038/ng.3869
Lam M, Trampush JW, Yu J, Knowles E, Davies G, Liewald DC, Starr JM, Djurovic S, Melle I, Sundet K, Christoforou A, Reinvang I, DeRosse P, Lundervold AJ, Steen VM, Espeseth T, Räikkönen K, Widen E, Palotie A, Eriksson JG, Giegling I, Konte B, Roussos P, Giakoumaki S, Burdick KE, Payton A, Ollier W, Chiba-Falek O, Attix DK, Need AC, Cirulli ET, Voineskos AN, Stefanis NC, Avramopoulos D, Hatzimanolis A, Arking DE, Smyrnis N, Bilder RM, Freimer NA, Cannon TD, London E, Poldrack RA, Sabb FW, Congdon E, Conley ED, Scult MA, Dickinson D, Straub RE, Donohoe G, Morris D, Corvin A, Gill M, Hariri AR, Weinberger DR, Pendleton N, Bitsios P, Rujescu D, Lahti J, Le Hellard S, Keller MC, Andreassen OA, Deary IJ, Glahn DC, Malhotra AK, Lencz T. Large-Scale Cognitive GWAS Meta-Analysis Reveals Tissue-Specific Neural Expression and Potential Nootropic Drug Targets. Cell Rep. 2017;21:2597-2613. https://doi.org/10.1016/j.celrep.2017.11.028
Davies G, Lam M, Harris SE, Trampush JW, Luciano M, Hill WD, Hagenaars SP, Ritchie SJ, Marioni RE, Fawns-Ritchie C, Liewald DCM, Okely JA, Ahola-Olli AV, Barnes CLK, Bertram L, Bis JC, Burdick KE, Christoforou A, DeRosse P, Djurovic S, Espeseth T, Giakoumaki S, Giddaluru S, Gustavson DE, Hayward C, Hofer E, Ikram MA, Karlsson R, Knowles E, Lahti J, Leber M, Li S, Mather KA, Melle I, Morris D, Oldmeadow C, Palviainen T, Payton A, Pazoki R, Petrovic K, Reynolds CA, Sargurupremraj M, Scholz M, Smith JA, Smith AV, Terzikhan N, Thalamuthu A, Trompet S, van der Lee SJ, Ware EB, Windham BG, Wright MJ, Yang J, Yu J, Ames D, Amin N, Amouyel P, Andreassen OA, Armstrong NJ, Assareh AA, Attia JR, Attix D, Avramopoulos D, Bennett DA, Böhmer AC, Boyle PA, Brodaty H, Campbell H, Cannon TD, Cirulli ET, Congdon E, Conley ED, Corley J, Cox SR, Dale AM, Dehghan A, Dick D, Dickinson D, Eriksson JG, Evangelou E, Faul JD, Ford I, Freimer NA, Gao H, Giegling I, Gillespie NA, Gordon SD, Gottesman RF, Griswold ME, Gudnason V, Harris TB, Hartmann AM, Hatzimanolis A, Heiss G, Holliday EG, Joshi PK, Kähönen M, Kardia SLR, Karlsson I, Kleineidam L, Knopman DS, Kochan NA, Konte B, Kwok JB, Le Hellard S, Lee T, Lehtimäki T, Li SC, Lill CM, Liu T, Koini M, London E, Longstreth WT Jr, Lopez OL, Loukola A, Luck T, Lundervold AJ, Lundquist A, Lyytikäinen LP, Martin NG, Montgomery GW, Murray AD, Need AC, Noordam R, Nyberg L, Ollier W, Papenberg G, Pattie A, Polasek O, Poldrack RA, Psaty BM, Reppermund S, Riedel-Heller SG, Rose RJ, Rotter JI, Roussos P, Rovio SP, Saba Y, Sabb FW, Sachdev PS, Satizabal CL, Schmid M, Scott RJ, Scult MA, Simino J, Slagboom PE, Smyrnis N, Soumaré A, Stefanis NC, Stott DJ, Straub RE, Sundet K, Taylor AM, Taylor KD, Tzoulaki I, Tzourio C, Uitterlinden A, Vitart V, Voineskos AN, Kaprio J, Wagner M, Wagner H, Weinhold L, Wen KH, Widen E, Yang Q, Zhao W, Adams HHH, Arking DE, Bilder RM, Bitsios P, Boerwinkle E, Chiba-Falek O, Corvin A, De Jager PL, Debette S, Donohoe G, Elliott P, Fitzpatrick AL, Gill M, Glahn DC, Hägg S, Hansell NK, Hariri AR, Ikram MK, Jukema JW, Vuoksimaa E, Keller MC, Kremen WS, Launer L, Lindenberger U, Palotie A, Pedersen NL, Pendleton N, Porteous DJ, Räikkönen K, Raitakari OT, Ramirez A, Reinvang I, Rudan I, Dan Rujescu, Schmidt R, Schmidt H, Schofield PW, Schofield PR, Starr JM, Steen VM, Trollor JN, Turner ST, Van Duijn CM, Villringer A, Weinberger DR, Weir DR, Wilson JF, Malhotra A, McIntosh AM, Gale CR, Seshadri S, Mosley TH Jr, Bressler J, Lencz T, Deary IJ. Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function. Nat Commun. 2018; 9:2098. https://doi.org/10.1038/s41467-018-04362-x
Savage JE, Jansen PR, Stringer S, Watanabe K, Bryois J, de Leeuw CA, Nagel M, Awasthi S, Barr PB, Coleman JRI, Grasby KL, Hammerschlag AR, Kaminski JA, Karlsson R, Krapohl E, Lam M, Nygaard M, Reynolds CA, Trampush JW, Young H, Zabaneh D, Hägg S, Hansell NK, Karlsson IK, Linnarsson S, Montgomery GW, Muñoz-Manchado AB, Quinlan EB, Schumann G, Skene NG, Webb BT, White T, Arking DE, Avramopoulos D, Bilder RM, Bitsios P, Burdick KE, Cannon TD, Chiba-Falek O, Christoforou A, Cirulli ET, Congdon E, Corvin A, Davies G, Deary IJ, DeRosse P, Dickinson D, Djurovic S, Donohoe G, Conley ED, Eriksson JG, Espeseth T, Freimer NA, Giakoumaki S, Giegling I, Gill M, Glahn DC, Hariri AR, Hatzimanolis A, Keller MC, Knowles E, Koltai D, Konte B, Lahti J, Le Hellard S, Lencz T, Liewald DC, London E, Lundervold AJ, Malhotra AK, Melle I, Morris D, Need AC, Ollier W, Palotie A, Payton A, Pendleton N, Poldrack RA, Räikkönen K, Reinvang I, Roussos P, Rujescu D, Sabb FW, Scult MA, Smeland OB, Smyrnis N, Starr JM, Steen VM, Stefanis NC, Straub RE, Sundet K, Tiemeier H, Voineskos AN, Weinberger DR, Widen E, Yu J, Abecasis G, Andreassen OA, Breen G, Christiansen L, Debrabant B, Dick DM, Heinz A, Hjerling-Leffler J, Ikram MA, Kendler KS, Martin NG, Medland SE, Pedersen NL, Plomin R, Polderman TJC, Ripke S, van der Sluis S, Sullivan PF, Vrieze SI, Wright MJ, Posthuma D. Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence. Nat Genet. 2018;50:912-919. https://doi.org/10.1038/s41588-018-0152-6
Davies G, Tenesa A, Payton A, Yang J, Harris SE, Liewald D, Ke X, Le Hellard S, Christoforou A, Luciano M, McGhee K, Lopez L, Gow AJ, Corley J, Redmond P, Fox HC, Haggarty P, Whalley LJ, McNeill G, Goddard ME, Espeseth T, Lundervold AJ, Reinvang I, Pickles A, Steen VM, Ollier W, Porteous DJ, Horan M, Starr JM, Pendleton N, Visscher PM, Deary IJ. Genome-wide association studies establish that human intelligence is highly heritable and polygenic. Mol Psychiatry. 2011;16:996-1005. https://doi.org/10.1038/mp.2011.85
Benyamin B, Pourcain B, Davis OS, Davies G, Hansell NK, Brion MJ, Kirkpatrick RM, Cents RA, Franić S, Miller MB, Haworth CM, Meaburn E, Price TS, Evans DM, Timpson N, Kemp J, Ring S, McArdle W, Medland SE, Yang J, Harris SE, Liewald DC, Scheet P, Xiao X, Hudziak JJ, de Geus EJ; Wellcome Trust Case Control Consortium 2 (WTCCC2), Jaddoe VW, Starr JM, Verhulst FC, Pennell C, Tiemeier H, Iacono WG, Palmer LJ, Montgomery GW, Martin NG, Boomsma D, Posthuma D, McGue M, Wright MJ, Davey Smith G, Deary IJ, Plomin R, Visscher PM. Childhood intelligence is heritable, highly polygenic and associated with FNBP1L. Mol Psychiatry. 2014;19:253-258. https://doi.org/10.1038/mp.2012.184
Kirkpatrick RM, McGue M, Iacono WG, Miller MB, Basu S. Results of a «GWAS plus»: general cognitive ability is substantially heritable and massively polygenic. PLoS One. 2014;9:e112390. https://doi.org/10.1371/journal.pone.0112390
Ripke S, Neale BM, Corvin A, Walters JT, Farh KH, Holmans PA, Lee P, Bulik-Sullivan B, Collier DA, Huang H, Pers TH, Agartz I, Agerbo E, Albus M, Alexander M, Amin F, Bacanu SA, Begemann M, Belliveau RA Jr, Bene J, Bergen SE, Bevilacqua E, Bigdeli TB, Black DW, Bruggeman R, Buccola NG, Buckner RL, Byerley W, Cahn W, Cai G, Campion D, Cantor RM, Carr VJ, Carrera N, Catts SV, Chambert KD, Chan RC, Chen RY, Chen EY, Cheng W, Cheung EF, Chong SA, Cloninger CR, Cohen D, Cohen N, Cormican P, Craddock N, Crowley JJ, Curtis D, Davidson M, Davis KL, Degenhardt F, Del Favero J, Demontis D, Dikeos D, Dinan T, Djurovic S, Donohoe G, Drapeau E, Duan J, Dudbridge F, Durmishi N, Eichhammer P, Eriksson J, Escott-Price V, Essioux L, Fanous AH, Farrell MS, Frank J, Franke L, Freedman R, Freimer NB, Friedl M, Friedman JI, Fromer M, Genovese G, Georgieva L, Giegling I, Giusti-Rodríguez P, Godard S, Goldstein JI, Golimbet V, Gopal S, Gratten J, de Haan L, Hammer C, Hamshere ML, Hansen M, Hansen T, Haroutunian V, Hartmann AM, Henskens FA, Herms S, Hirschhorn JN, Hoffmann P, Hofman A, Hollegaard MV, Hougaard DM, Ikeda M, Joa I, Julià A, Kahn RS, Kalaydjieva L, Karachanak-Yankova S, Karjalainen J, Kavanagh D, Keller MC, Kennedy JL, Khrunin A, Kim Y, Klovins J, Knowles JA, Konte B, Kucinskas V, Ausrele Kucinskiene Z, Kuzelova-Ptackova H, Kähler AK, Laurent C, Keong JL, Lee SH, Legge SE, Lerer B, Li M, Li T, Liang KY, Lieberman J, Limborska S, Loughland CM, Lubinski J, Lönnqvist J, Macek M Jr, Magnusson PK, Maher BS, Maier W, Mallet J, Marsal S, Mattheisen M, Mattingsdal M, McCarley RW, McDonald C, McIntosh AM, Meier S, Meijer CJ, Melegh B, Melle I, Mesholam-Gately RI, Metspalu A, Michie PT, Milani L, Milanova V, Mokrab Y, Morris DW, Mors O, Murphy KC, Murray RM, Myin-Germeys I, Müller-Myhsok B, Nelis M, Nenadic I, Nertney DA, Nestadt G, Nicodemus KK, Nikitina-Zake L, Nisenbaum L, Nordin A, O’Callaghan E, O’Dushlaine C, O’Neill FA, Oh SY, Olincy A, Olsen L, Van Os J, Pantelis C, Papadimitriou GN, Papiol S, Parkhomenko E, Pato MT, Paunio T, Pejovic-Milovancevic M, Perkins DO, Pietiläinen O, Pimm J, Pocklington AJ, Powell J, Price A, Pulver AE, Purcell SM, Quested D, Rasmussen HB, Reichenberg A, Reimers MA, Richards AL, Roffman JL, Roussos P, Ruderfer DM, Salomaa V, Sanders AR, Schall U, Schubert CR, Schulze TG, Schwab SG, Scolnick EM, Scott RJ, Seidman LJ, Shi J, Sigurdsson E, Silagadze T, Silverman JM, Sim K, Slominsky P, Smoller JW, So HC, Spencer CA, Stahl EA, Stefansson H, Steinberg S, Stogmann E, Straub RE, Strengman E, Strohmaier J, Stroup TS, Subramaniam M, Suvisaari J, Svrakic DM, Szatkiewicz JP, Söderman E, Thirumalai S, Toncheva D, Tosato S, Veijola J, Waddington J, Walsh D, Wang D, Wang Q, Webb BT, Weiser M, Wildenauer DB, Williams NM, Williams S, Witt SH, Wolen AR, Wong EH, Wormley BK, Xi HS, Zai CC, Zheng X, Zimprich F, Wray NR, Stefansson K, Visscher PM, Adolfsson R, Andreassen OA, Blackwood DH, Bramon E, Buxbaum JD, Børglum AD, Cichon S, Darvasi A, Domenici E, Ehrenreich H, Esko T, Gejman PV, Gill M, Gurling H, Hultman CM, Iwata N, Jablensky AV, Jönsson EG, Kendler KS, Kirov G, Knight J, Lencz T, Levinson DF, Li QS, Liu J, Malhotra AK, McCarroll SA, McQuillin A, Moran JL, Mortensen PB, Mowry BJ, Nöthen MM, Ophoff RA, Owen MJ, Palotie A, Pato CN, Petryshen TL, Posthuma D, Rietschel M, Riley BP, Rujescu D, Sham PC, Sklar P, St Clair D, Weinberger DR, Wendland JR, Werge T, Daly MJ, Sullivan PF, O’Donovan MC. Biological insights from 108 schizophrenia-associated genetic loci. Nature. 2014;511(7510):421-427. https://doi.org/10.1038/nature13595
Ohi K, Shimada T, Nemoto K, Kataoka Y, Yasuyama T, Kimura K, Okubo H, Uehara T, Kawasaki Y. Cognitive clustering in schizophrenia patients, their first-degree relatives and healthy subjects is associated with anterior cingulate cortex volume. Neuroimage Clin. 2017;16:248-256. https://doi.org/10.1016/j.nicl.2017.08.008
Ohi K, Hashimoto R, Ikeda M, Yamamori H, Yasuda Y, Fujimoto M, Umeda-Yano S, Fukunaga M, Fujino H, Watanabe Y, Iwase M, Kazui H, Iwata N, Weinberger DR, Takeda M. Glutamate Networks Implicate Cognitive Impairments in Schizophrenia: Genome-Wide Association Studies of 52 Cognitive Phenotypes. Schizophr Bull. 2015;41:909-918. https://doi.org/10.1093/schbul/sbu171
Ripke S, O’Dushlaine C, Chambert K, Moran JL, Kähler AK, Akterin S, Bergen SE, Collins AL, Crowley JJ, Fromer M, Kim Y, Lee SH, Magnusson PK, Sanchez N, Stahl EA, Williams S, Wray NR, Xia K, Bettella F, Borglum AD, Bulik-Sullivan BK, Cormican P, Craddock N, de Leeuw C, Durmishi N, Gill M, Golimbet V, Hamshere ML, Holmans P, Hougaard DM, Kendler KS, Lin K, Morris DW, Mors O, Mortensen PB, Neale BM, O’Neill FA, Owen MJ, Milovancevic MP, Posthuma D, Powell J, Richards AL, Riley BP, Ruderfer D, Rujescu D, Sigurdsson E, Silagadze T, Smit AB, Stefansson H, Steinberg S, Suvisaari J, Tosato S, Verhage M, Walters JT; Multicenter Genetic Studies of Schizophrenia Consortium, Levinson DF, Gejman PV, Kendler KS, Laurent C, Mowry BJ, O’Donovan MC, Owen MJ, Pulver AE, Riley BP, Schwab SG, Wildenauer DB, 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 FB, Liang KY, Maier W, Mallet J, Nertney DA, Nestadt G, Norton N, O’Neill FA, Papadimitriou GN, Ribble R, Sanders AR, Silverman JM, Walsh D, Williams NM, Wormley B; Psychosis Endophenotypes International Consortium, Arranz MJ, Bakker S, Bender S, Bramon E, Collier D, Crespo-Facorro B, Hall J, Iyegbe C, Jablensky A, Kahn RS, Kalaydjieva L, Lawrie S, Lewis CM, Lin K, Linszen DH, Mata I, McIntosh A, Murray RM, Ophoff RA, Powell J, Rujescu D, Van Os J, Walshe M, Weisbrod M, Wiersma D; Wellcome Trust Case Control Consortium 2, Donnelly P, Barroso I, Blackwell JM, Bramon E, Brown MA, Casas JP, Corvin AP, Deloukas P, Duncanson A, Jankowski J, Markus HS, Mathew CG, Palmer CN, Plomin R, Rautanen A, Sawcer SJ, Trembath RC, Viswanathan AC, Wood NW, Spencer CC, Band G, Bellenguez C, Freeman C, Hellenthal G, Giannoulatou E, Pirinen M, Pearson RD, Strange A, Su Z, Vukcevic D, Donnelly P, Langford C, Hunt SE, Edkins S, Gwilliam R, Blackburn H, Bumpstead SJ, Dronov S, Gillman M, Gray E, Hammond N, Jayakumar A, McCann OT, Liddle J, Potter SC, Ravindrarajah R, Ricketts M, Tashakkori-Ghanbaria A, Waller MJ, Weston P, Widaa S, Whittaker P, Barroso I, Deloukas P, Mathew CG, Blackwell JM, Brown MA, Corvin AP, McCarthy MI, Spencer CC, Bramon E, Corvin AP, O’Donovan MC, Stefansson K, Scolnick E, Purcell S, McCarroll SA, Sklar P, Hultman CM, Sullivan PF. Genome-wide association analysis identifies 13 new risk loci for schizophrenia. Nature Genetics. 2013;45:1150-1159. https://doi.org/10.1038/ng.2742
Hamshere ML, Walters JT, Smith R, Richards AL, Green E, Grozeva D, Jones I, Forty L, Jones L, Gordon-Smith K, Riley B, O’Neill FA, Kendler KS, Sklar P, Purcell S, Kranz J; Schizophrenia Psychiatric Genome-wide Association Study Consortium; Wellcome Trust Case Control Consortium+; Wellcome Trust Case Control Consortium 2, Morris D, Gill M, Holmans P, Craddock N, Corvin A, Owen MJ, O’Donovan MC. Genome-wide significant associations in schizophrenia to ITIH3/4, CACNA1C and SDCCAG8, and extensive replication of associations reported by the Schizophrenia PGC. Molecular Psychiatry. 2012;18(6):708-712. https://doi.org/10.1038/mp.2012.67
Ferreira MA, O’Donovan MC, Meng YA, Jones IR, Ruderfer DM, Jones L, Fan J, Kirov G, Perlis RH, Green EK, Smoller JW, Grozeva D, Stone J, Nikolov I, Chambert K, Hamshere ML, Nimgaonkar VL, Moskvina V, Thase ME, Caesar S, Sachs GS, Franklin J, Gordon-Smith K, Ardlie KG, Gabriel SB, Fraser C, Blumenstiel B, Defelice M, Breen G, Gill M, Morris DW, Elkin A, Muir WJ, McGhee KA, Williamson R, MacIntyre DJ, MacLean AW, St CD, Robinson M, Van Beck M, Pereira AC, Kandaswamy R, McQuillin A, Collier DA, Bass NJ, Young AH, Lawrence J, Ferrier IN, Anjorin A, Farmer A, Curtis D, Scolnick EM, McGuffin P, Daly MJ, Corvin AP, Holmans PA, Blackwood DH, Gurling HM, Owen MJ, Purcell SM, Sklar P, Craddock N; Wellcome Trust Case Control Consortium. Collaborative genome-wide association analysis of 10,596 individuals supports a role for Ankyrin-G (ANK3) and the alpha-1C subunit of the L-type voltage-gated calcium channel (CACNA1C) in bipolar disorder. Nature Genetics. 2008;40:1056-1058. https://doi.org/10.1038/ng.209
Cross-Disorder Group of the Psychiatric Genomics Consortium, Lee SH, Ripke S, Neale BM, Faraone SV, Purcell SM, Perlis RH, Mowry BJ, Thapar A, Goddard ME, Witte JS, Absher D, Agartz I, Akil H, Amin F, Andreassen OA, Anjorin A, Anney R, Anttila V, Arking DE, Asherson P, Azevedo MH, Backlund L, Badner JA, Bailey AJ, Banaschewski T, Barchas JD, Barnes MR, Barrett TB, Bass N, Battaglia A, Bauer M, Bayés M, Bellivier F, Bergen SE, Berrettini W, Betancur C, Bettecken T, Biederman J, Binder EB, Black DW, Blackwood DH, Bloss CS, Boehnke M, Boomsma DI, Breen G, Breuer R, Bruggeman R, Cormican P, Buccola NG, Buitelaar JK, Bunney WE, Buxbaum JD, Byerley WF, Byrne EM, Caesar S, Cahn W, Cantor RM, Casas M, Chakravarti A, Chambert K, Choudhury K, Cichon S, Cloninger CR, Collier DA, Cook EH, Coon H, Cormand B, Corvin A, Coryell WH, Craig DW, Craig IW, Crosbie J, Cuccaro ML, Curtis D, Czamara D, Datta S, Dawson G, Day R, De Geus EJ, Degenhardt F, Djurovic S, Donohoe GJ, Doyle AE, Duan J, Dudbridge F, Duketis E, Ebstein RP, Edenberg HJ, Elia J, Ennis S, Etain B, Fanous A, Farmer AE, Ferrier IN, Flickinger M, Fombonne E, Foroud T, Frank J, Franke B, Fraser C, Freedman R, Freimer NB, Freitag CM, Friedl M, Frisén L, Gallagher L, Gejman PV, Georgieva L, Gershon ES, Geschwind DH, Giegling I, Gill M, Gordon SD, Gordon-Smith K, Green EK, Greenwood TA, Grice DE, Gross M, Grozeva D, Guan W, Gurling H, De Haan L, Haines JL, Hakonarson H, Hallmayer J, Hamilton SP, Hamshere ML, Hansen TF, Hartmann AM, Hautzinger M, Heath AC, Henders AK, Herms S, Hickie IB, Hipolito M, Hoefels S, Holmans PA, Holsboer F, Hoogendijk WJ, Hottenga JJ, Hultman CM, Hus V, Ingason A, Ising M, Jamain S, Jones EG, Jones I, Jones L, Tzeng JY, Kähler AK, Kahn RS, Kandaswamy R, Keller MC, Kennedy JL, Kenny E, Kent L, Kim Y, Kirov GK, Klauck SM, Klei L, Knowles JA, Kohli MA, Koller DL, Konte B, Korszun A, Krabbendam L, Krasucki R, Kuntsi J, Kwan P, Landén M, Långström N, Lathrop M, Lawrence J, Lawson WB, Leboyer M, Ledbetter DH, Lee PH, Lencz T, Lesch KP, Levinson DF, Lewis CM, Li J, Lichtenstein P, Lieberman JA, Lin DY, Linszen DH, Liu C, Lohoff FW, Loo SK, Lord C, Lowe JK, Lucae S, MacIntyre DJ, Madden PA, Maestrini E, Magnusson PK, Mahon PB, Maier W, Malhotra AK, Mane SM, Martin CL, Martin NG, Mattheisen M, Matthews K, Mattingsdal M, McCarroll SA, McGhee KA, McGough JJ, McGrath PJ, McGuffin P, McInnis MG, McIntosh A, McKinney R, McLean AW, McMahon FJ, McMahon WM, McQuillin A, Medeiros H, Medland SE, Meier S, Melle I, Meng F, Meyer J, Middeldorp CM, Middleton L, Milanova V, Miranda A, Monaco AP, Montgomery GW, Moran JL, Moreno-De-Luca D, Morken G, Morris DW, Morrow EM, Moskvina V, Muglia P, Mühleisen TW, Muir WJ, Müller-Myhsok B, Murtha M, Myers RM, Myin-Germeys I, Neale MC, Nelson SF, Nievergelt CM, Nikolov I, Nimgaonkar V, Nolen WA, Nöthen MM, Nurnberger JI, Nwulia EA, Nyholt DR, O’Dushlaine C, Oades RD, Olincy A, Oliveira G, Olsen L, Ophoff RA, Osby U, Owen MJ, Palotie A, Parr JR, Paterson AD, Pato CN, Pato MT, Penninx BW, Pergadia ML, Pericak-Vance MA, Pickard BS, Pimm J, Piven J, Posthuma D, Potash JB, Poustka F, Propping P, Puri V, Quested DJ, Quinn EM, Ramos-Quiroga JA, Rasmussen HB, Raychaudhuri S, Rehnström K, Reif A, Ribasés M, Rice JP, Rietschel M, Roeder K, Roeyers H, Rossin L, Rothenberger A, Rouleau G, Ruderfer D, Rujescu D, Sanders AR, Sanders SJ, Santangelo SL, Sergeant JA, Schachar R, Schalling M, Schatzberg AF, Scheftner WA, Schellenberg GD, Scherer SW, Schork NJ, Schulze TG, Schumacher J, Schwarz M, Scolnick E, Scott LJ, Shi J, Shilling PD, Shyn SI, Silverman JM, Slager SL, Smalley SL, Smit JH, Smith EN, Sonuga-Barke EJ, St Clair D, State M, Steffens M, Steinhausen HC, Strauss JS, Strohmaier J, Stroup TS, Sutcliffe JS, Szatmari P, Szelinger S, Thirumalai S, Thompson RC, Todorov AA, Tozzi F, Treutlein J, Uhr M, van den Oord EJ, Van Grootheest G, Van Os J, Vicente AM, Vieland VJ, Vincent JB, Visscher PM, Walsh CA, Wassink TH, Watson SJ, Weissman MM, Werge T, Wienker TF, Wijsman EM, Willemsen G, Williams N, Willsey AJ, Witt SH, Xu W, Young AH, Yu TW, Zammit S, Zandi PP, Zhang P, Zitman FG, Zöllner S, Devlin B, Kelsoe JR, Sklar P, Daly MJ, O’Donovan MC, Craddock N, Sullivan PF, Smoller JW, Kendler KS, Wray NR; International Inflammatory Bowel Disease Genetics Consortium (IIBDGC). Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis. Lancet. 2013;381:1371-1379. https://doi.org/10.1016/S0140-6736(12)62129-1
Purcell SM, Moran JL, Fromer M, Ruderfer D, Solovieff N, Roussos P, O’Dushlaine C, Chambert K, Bergen SE, Kähler A, Duncan L, Stahl E, Genovese G, Fernández E, Collins MO, Komiyama NH, Choudhary JS, Magnusson PK, Banks E, Shakir K, Garimella K, Fennell T, DePristo M, Grant SG, Haggarty SJ, Gabriel S, Scolnick EM, Lander ES, Hultman CM, Sullivan PF, McCarroll SA, Sklar P. A polygenic burden of rare disruptive mutations in schizophrenia. Nature. 2014;506(7487):185-190. https://doi.org/10.1038/nature12975
Fromer M, Pocklington AJ, Kavanagh DH, Williams HJ, Dwyer S, Gormley P, Georgieva L, Rees E, Palta P, Ruderfer DM, Carrera N, Humphreys I, Johnson JS, Roussos P, Barker DD, Banks E, Milanova V, Grant SG, Hannon E, Rose SA, Chambert K, Mahajan M, Scolnick EM, Moran JL, Kirov G, Palotie A, McCarroll SA, Holmans P, Sklar P, Owen MJ, Purcell SM, O’Donovan MC. De novo mutations in schizophrenia implicate synaptic networks. Nature. 2014;506(7487):179-184. https://doi.org/10.1038/nature12929
Kirov G, Pocklington AJ, Holmans P, Ivanov D, Ikeda M, Ruderfer D, Moran J, Chambert K, Toncheva D, Georgieva L, Grozeva D, Fjodorova M, Wollerton R, Rees E, Nikolov I, van de Lagemaat LN, Bayés A, Fernandez E, Olason PI, Böttcher Y, Komiyama NH, Collins MO, Choudhary J, Stefansson K, Stefansson H, Grant SG, Purcell S, Sklar P, O’Donovan MC, Owen MJ. De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia. Molecular Psychiatry. 2012;17:142-153. https://doi.org/10.1038/mp.2011.154
Kirchner SK, Ozkan S, Musil R, Spellmann I, Kannayian N, Falkai P, Rossner M, Papiol S. Polygenic analysis suggests the involvement of calcium signaling in executive function in schizophrenia patients. Eur Arch Psychiatry Clin Neurosci. 2018;1-7. https://doi.org/10.1007/s00406-018-0961-8
Richards AL, Pardiñas AF, Frizzati A, Tansey KE, Lynham AJ, Holmans P, Legge SE, Savage JE, Agartz I, Andreassen OA, Blokland GAM, Corvin A, Cosgrove D, Degenhardt F, Djurovic S, Espeseth T, Ferraro L, Gayer-Anderson C, Giegling I, van Haren NE, Hartmann AM, Hubert JJ, Jönsson EG, Konte B, Lennertz L, Olde Loohuis LM, Melle I, Morgan C, Morris DW, Murray RM, Nyman H, Ophoff RA; GROUP Investigators, van Os J; EUGEI WP2 Group; Schizophrenia Working Group of the Psychiatric Genomics Consortium, Petryshen TL, Quattrone D, Rietschel M, Rujescu D, Rutten BPF, Streit F, Strohmaier J, Sullivan PF, Sundet K, Wagner M, Escott-Price V, Owen MJ, Donohoe G, O’Donovan MC, Walters JTR. The relationship between polygenic risk scores and cognition in schizophrenia. Schizophr Bull. 2019. pii: sbz061. https://doi.org/10.1093/schbul/sbz061
Lee JL, Everitt BJ, Thomas KL. Independent cellular processes for hippocampal memory consolidation and reconsolidation. Science. 2004; 304(5672):839-843. https://doi.org/10.1126/science.1095760
Cowansage KK, LeDoux JE, Monfils MH. Brain-derived neurotrophic factor: a dynamic gatekeeper of neural plasticity. Curr Mol Pharmacol. 2010;3(1):12-29. https://doi.org/10.2174/1874467211003010012
Egan MF, Kojima M, Callicott JH, Goldberg TE, Kolachana BS, Bertolino A, Zaitsev E, Gold B, Goldman D, Dean M, Lu B, Weinberger DR. The BDNF val66met polymorphism affects activity-dependent secretion of BDNF and human memory and hippocampal function. Cell. 2003; 112(2):257-269. https://doi.org/10.1016/s0092-8674(03)00035-7
Szeszko PR, Lipsky R, Mentschel C, Robinson D, Gunduz-Bruce H, Sevy S, Ashtari M, Napolitano B, Bilder RM, Kane JM, Goldman D, Malhotra AK. Brain-derived neurotrophic factor val66met polymorphism and volume of the hippocampal formation. Mol Psychiatry. 2005;10(7):631-636. https://doi.org/10.1038/sj.mp.4001656
Harris SE, Fox H, Wright AF, Hayward C, Starr JM, Whalley LJ, Deary IJ. The brain-derived neurotrophic factor Val66Met polymorphism is associated with age-related change in reasoning skills. Mol Psychiatry. 2006;11(5): 505-513. https://doi.org/10.1038/sj.mp.4001799
Hedstrom KL, Ogawa Y, Rasband MN. AnkyrinG is required for maintenance of the axon initial segment and neuronal polarity. J Cell Biol. 2008;183(4):635-640. https://doi.org/10.1083/jcb.200806112
Sobotzik JM, Sie JM, Politi C, Del Turco D, Bennett V, Deller T, Schultz C. AnkyrinG is required to maintain axo-dendritic polarity in vivo. Proc Natl Acad Sci USA. 2009;106(41):17564-17569. https://doi.org/10.1073/pnas.0909267106
Athanasiu L, Mattingsdal M, Kähler AK, Brown A, Gustafsson O, Agartz I, Giegling I, Muglia P, Cichon S, Rietschel M, Pietiläinen OP, Peltonen L, Bramon E, Collier D, Clair DS, Sigurdsson E, Petursson H, Rujescu D, Melle I, Steen VM, Djurovic S, Andreassen OA. Gene variants associated with schizophrenia in a Norwegian genome-wide study are replicated in a large European cohort. J Psychiatr Res. 2010;44:748-753. https://doi.org/10.1016/j.jpsychires.2010.02.002
Roussos P, Katsel P, Davis KL, Bitsios P, Giakoumaki SG, Jogia J, Rozsnyai K, Collier D, Frangou S, Siever LJ, Haroutunian V. Molecular and genetic evidence for abnormalities in the nodes of ranvier in schizophrenia. Arch Gen Psychiatry. 2012;69:7-15. https://doi.org/10.1001/archgenpsychiatry.2011.110
Yuan A, Yi Z, Wang Q, Sun J, Li Z, Du Y, Zhang C, Yu T, Fan J, Li H, Yu S. ANK3 as a risk gene for schizophrenia: new data in han Chinese and meta analysis. Am J Med Genet B Neuropsychiatr Genet. 2012;159B:997-1005. https://doi.org/10.1002/ajmg.b.32112
Cruz DA, Weaver CL, Lovallo EM, Melchitzky DS, Lewis DA. Selective alterations in postsynaptic markers of chandelier cell inputs to cortical pyramidal neurons in participants with schizophrenia. Neuropsychopharmacology. 2009;34(9):2112-2124. https://doi.org/10.1038/npp.2009.36
Rueckert EH, Barker D, Ruderfer D, Bergen SE, O’Dushlaine C, Luce CJ, Sheridan SD, Theriault KM, Chambert K, Moran J, Purcell SM, Madison JM, Haggarty SJ, Sklar P. Cis-acting regulation of brain-specific ANK3 gene expression by a genetic variant associated with bipolar disorder. Mol Psychiatry. 2013;18(8):922-929. https://doi.org/10.1038/mp.2012.104
Cassidy C, Buchy L, Bodnar M, Dell’elce J, Choudhry Z, Fathalli F, Sengupta S, Fox R, Malla A, Lepage M, Iyer S, Joober R. Association of a risk allele of ANK3 with cognitive performance and cortical thickness in patients with first-episode psychosis. J Psychiatry Neurosci. 2014;39(1):31-39. https://doi.org/10.1503/jpn.120242
Stefansson H, Ophoff RA, Steinberg S, Andreassen OA, Cichon S, Rujescu D, Werge T, Pietiläinen OP, Mors O, Mortensen PB, Sigurdsson E, Gustafsson O, Nyegaard M, Tuulio-Henriksson A, Ingason A, Hansen T, Suvisaari J, Lonnqvist J, Paunio T, Børglum AD, Hartmann A, Fink-Jensen A, Nordentoft M, Hougaard D, Norgaard-Pedersen B, Böttcher Y, Olesen J, Breuer R, Möller HJ, Giegling I, Rasmussen HB, Timm S, Mattheisen M, Bitter I, Réthelyi JM, Magnusdottir BB, Sigmundsson T, Olason P, Masson G, Gulcher JR, Haraldsson M, Fossdal R, Thorgeirsson TE, Thorsteinsdottir U, Ruggeri M, Tosato S, Franke B, Strengman E, Kiemeney LA; Genetic Risk and Outcome in Psychosis (GROUP), Melle I, Djurovic S, Abramova L, Kaleda V, Sanjuan J, de Frutos R, Bramon E, Vassos E, Fraser G, Ettinger U, Picchioni M, Walker N, Toulopoulou T, Need AC, Ge D, Yoon JL, Shianna KV, Freimer NB, Cantor RM, Murray R, Kong A, Golimbet V, Carracedo A, Arango C, Costas J, Jönsson EG, Terenius L, Agartz I, Petursson H, Nöthen MM, Rietschel M, Matthews PM, Muglia P, Peltonen L, St Clair D, Goldstein DB, Stefansson K, Collier DA. Common variants conferring risk of schizophrenia. Nature. 2009;460(7256):744-747. https://doi.org/10.1038/nature08186
Li T, Li Z, Chen P, Zhao Q, Wang T, Huang K, Li J, Li Y, Liu J, Zeng Z, Feng G, He L, Shi Y. Common variants in major histocompatibility complex region and TCF4 gene are significantly associated with schizophrenia in Han Chinese. Biol Psychiatry. 2010;68(7):671-673. https://doi.org/10.1016/j.biopsych.2010.06.014
Steinberg S, de Jong S; Irish Schizophrenia Genomics Consortium, Andreassen OA, Werge T, Børglum AD, Mors O, Mortensen PB, Gustafsson O, Costas J, Pietiläinen OP, Demontis D, Papiol S, Huttenlocher J, Mattheisen M, Breuer R, Vassos E, Giegling I, Fraser G, Walker N, Tuulio-Henriksson A, Suvisaari J, Lönnqvist J, Paunio T, Agartz I, Melle I, Djurovic S, Strengman E; GROUP, Jürgens G, Glenthøj B, Terenius L, Hougaard DM, Ørntoft T, Wiuf C, Didriksen M, Hollegaard MV, Nordentoft M, van Winkel R, Kenis G, Abramova L, Kaleda V, Arrojo M, Sanjuán J, Arango C, Sperling S, Rossner M, Ribolsi M, Magni V, Siracusano A, Christiansen C, Kiemeney LA, Veldink J, van den Berg L, Ingason A, Muglia P, Murray R, Nöthen MM, Sigurdsson E, Petursson H, Thorsteinsdottir U, Kong A, Rubino IA, De Hert M, Réthelyi JM, Bitter I, Jönsson EG, Golimbet V, Carracedo A, Ehrenreich H, Craddock N, Owen MJ, O’Donovan MC; Wellcome Trust Case Control Consortium 2, Ruggeri M, Tosato S, Peltonen L, Ophoff RA, Collier DA, St Clair D, Rietschel M, Cichon S, Stefansson H, Rujescu D, Stefansson K. Common variants at VRK2 and TCF4 conferring risk of schizophrenia. Hum Mol Genet. 2011;20(20):4076-4081. https://doi.org/10.1093/hmg/ddr325
Ripke S, Sanders AR, Kendler KS, Levinson DF, Sklar P, Holmans PA, Lin DY, Duan J, Ophoff RA, Andreassen OA, Scolnick E, Cichon S, St Clair D, Corvin A, Gurling H, Werge T, Rujescu D, Blackwood DH, Pato CN, Malhotra AK, Purcell S, Dudbridge F, Neale BM, Rossin L, Visscher PM, Posthuma D, Ruderfer DM, Fanous A, Stefansson H, Steinberg S, Mowry BJ, Golimbet V, De Hert M, Jönsson EG, Bitter I, Pietiläinen OP, Collier DA, Tosato S, Agartz I, Albus M, Alexander M, Amdur RL, Amin F, Bass N, Bergen SE, Black DW, Børglum AD, Brown MA, Bruggeman R, Buccola NG, Byerley WF, Cahn W, Cantor RM, Carr VJ, Catts SV, Choudhury K, Cloninger CR, Cormican P, Craddock N, Danoy PA, Datta S, de Hann L, Demontis D, Dikeos D, Djurovic S, Donnelly P, Donohoe G, Duong L, Dwyer S, Fink-Jensen A, Freedman R, Freimer NB, Friedl M, Georgieva L, Giegling I, Gill M, Glenthøj B, Godard S, Hamshere M, Hansen M, Hansen T, Hartmann AM, Henskens FA, Hougaard DM, Hultman CM, Ingason A, Jablensky AV, Jakobsen KD, Jay M, Jürgens G, Kahn RS, Keller MC, Kenis G, Kenny E, Kim Y, Kirov GK, Konnerth H, Konte B, Krabbendam L, Krausucki R, Lasseter VK, Laurent C, Lawrence J, Lencz T, Lerer FB, Liang KY, Lichtenstein P, Lieberman JA, Linszen DH, Lönnqvist J, Loughland CM, Maclean AW, Maher BS, Maier W, Mallet J, Malloy P, Mattheisen M, Mattinsgsdal M, McGhee KA, McGrath JJ, McIntosh A, McLean DE, McQuillin A, Melle I, Michie PT, Milanova V, Morris DW, Mors O, Mortensen PB, Moskvina V, Muglia P, Myin-Germeys I, Nertney DA, Nestadt G, Nielsen J, Nikolov I, Nordentroft M, Norton N, Nöthen MM, O’Dushlaine CT, Olincy A, Olsen L, O’Neill FA, Ørntoft T, Owen MJ, Pantelis C, Papadimitriou G, Pato MT, Peltonen L, Petursson H, Pickard B, Pimm J, Pulver AE, Puri V, Quested D, Quinn EM, Rasmussen HB, Réthelyi JM, Ribble R, Rietschel M, Riley BP, Ruggeri M, Schall U, Schulze TG, Schwab SG, Scott RJ, Shi J, Sigurdsson E, Silverman JM, Spencer CC, Stefansson K, Strange A, Strengman E, Stroup TS, Suvisaari J, Tereniuis L, Thirumalai S, Thygesen JH, Timm S, Toncheva D, van den Oord E, van Os J, van Winkel R, Veldink J, Walsh D, Wang AG, Wiersma D, Wildenauer DB, Williams HJ, Williams NM, Wormley B, Zammit S, Sullivan PF, O’Donovan MC, Daly MJ, Gejman PV. Genome-wide association study identifies five new schizophrenia loci. Nat Genet. 2011;43:969-976. https://doi.org/10.1038/ng.940
Albanna A, Choudhry Z, Harvey PO, Fathalli F, Cassidy C, Sengupta SM, Iyer SN, Rho A, Lepage M, Malla A, Joober R. TCF4 gene polymorphism and cognitive performance in patients with first episode psychosis. Schizophr Res. 2014;152(1):124-129. https://doi.org/10.1016/j.schres.2013.10.038
Wirgenes KV, Sønderby IE, Haukvik UK, Mattingsdal M, Tesli M, Athanasiu L, Sundet K, Røssberg JI, Dale AM, Brown AA, Agartz I, Melle I, Djurovic S, Andreassen OA. TCF4 sequence variants and mRNA levels are associated with neurodevelopmental characteristics in psychotic disorders. Transl Psych. 2012;2(5):e112. https://doi.org/10.1038/tp.2012.39
Fedorenko OIu, Rudikov EV, Gavrilova VA, Boiarko EG, Semke AV, Ivanova SA. Association of (N251S)-PIP5K2A with schizophrenic disorders: a study of the Russian population of Siberia. Zhurnal nevrologii i psikhiatrii im. S.S. Korsakova. 2013;113(5):58-61.
Ivanova SA, Losenkov IS, Bokhan NA. Role of glycogen synthase kinase-3β in the pathogenesis of mental disorders. Zhurnal nevrologii i psikhiatrii im. S.S. Korsakova.2014;114(6):93-100.
Chen J, Wang M, Waheed Khan RA, He K, Wang Q, Li Z, Shen J, Song Z, Li W, Wen Z, Jiang Y, Xu Y, Shi Y, Ji W. The GSK3B gene confers risk for both major depressive disorder and schizophrenia in the Han Chinese population. J Affect Disord. 2015;185:149-155. https://doi.org/10.1016/j.jad.2015.06.040
Pandey GN, Rizavi HS, Tripathi M, Ren X. Region-specific dysregulation of glycogen synthase kinase-3β and β-catenin in the postmortem brains of subjects with bipolar disorder and schizophrenia. Bipolar Disord. 2015;17(2): 160-171. https://doi.org/10.1111/bdi.12228
Wong P, Sze Y, Chang CC, Lee J, Zhang X. Pregnenolone sulfate normalizes schizophrenia-like behaviors in dopamine transporter knockout mice through the AKT/GSK3β pathway. Transl Psychiatry. 2015;5:e528. https://doi.org/10.1038/tp.2015.21
Bureau A, Beaulieu JM, Paccalet T, Chagnon YC, Maziade M. The interaction of GSK3B and FXR1 genotypes may influence the mania and depression dimensions in mood disorders. J Affect Disord. 2017;213:172-177. https://doi.org/10.1016/j.jad.2017.02.023
Pietiläinen OP, Paunio T, Loukola A, Tuulio-Henriksson A, Kieseppä T, Thompson P, Toga AW, van Erp TG, Silventoinen K, Soronen P, Hennah W, Turunen JA, Wedenoja J, Palo OM, Silander K, Lönnqvist J, Kaprio J, Cannon TD, Peltonen L. Association of AKT1 with verbal learning, verbal memory, and regional cortical gray matter density in twins. Am J Med Genet B Neuropsychiatr Genet. 2009;150B(5):683-692. https://doi.org/10.1002/ajmg.b.30890
Blasi G, Napolitano F, Ursini G, Taurisano P, Romano R, Caforio G, Fazio L, Gelao B, Di Giorgio A, Iacovelli L, Sinibaldi L, Popolizio T, Usiello A, Bertolino A. DRD2/AKT1 interaction on D2 c-AMP independent signaling, attentional processing, and response to olanzapine treatment in schizophrenia. Proc Natl Acad Sci USA. 2011;108(3):1158-1163. https://doi.org/10.1073/pnas.1013535108
Le Hellard S, Håvik B, Espeseth T, Breilid H, Løvlie R, Luciano M, Gow AJ, Harris SE, Starr JM, Wibrand K, Lundervold AJ, Porteous DJ, Bramham CR, Deary IJ, Reinvang I, Steen VM. Variants in doublecortin- and calmodulin kinase like 1, a gene up-regulated by BDNF, are associated with memory and general cognitive abilities. PLoS One. 2009;4(10):e7534. https://doi.org/10.1371/journal.pone.0007534
Håvik B, Degenhardt FA, Johansson S, Fernandes CP, Hinney A, Scherag A, Lybæk H, Djurovic S, Christoforou A, Ersland KM, Giddaluru S, O’Donovan MC, Owen MJ, Craddock N, Mühleisen TW, Mattheisen M, Schimmelmann BG, Renner T, Warnke A, Herpertz-Dahlmann B, Sinzig J, Albayrak Ö, Rietschel M, Nöthen MM, Bramham CR, Werge T, Hebebrand J, Haavik J, Andreassen OA, Cichon S, Steen VM, Le Hellard S. DCLK1 variants are associated across schizophrenia and attention deficit/hyperactivity disorder. PLoS One. 2012;7(4):e35424. https://doi.org/10.1371/journal.pone.0035424
Chubb JE, Bradshaw NJ, Soares DC, Porteous DJ, Millar JK. The DISC locus in psychiatric illness. Mol Psychiatry. 2008;13:36-64. https://doi.org/10.1038/sj.mp.4002106
Liu CM, Liu YL, Hwu HG, Fann CS, Yang UC, Hsu PC, Chang CC, Chen WJ, Hwang TJ, Hsieh MH, Liu CC, Chien YL, Lin YT, Tsuang MT. Genetic associations and expression of extra-short isoforms of disrupted-in-schizophrenia 1 in a neurocognitive subgroup of schizophrenia. J Hum Genet. 2019;64(7):653-663. https://doi.org/10.1038/s10038-019-0597-1
Teng S, Thomson PA, McCarthy S, Kramer M, Muller S, Lihm J, Morris S, Soares DC, Hennah W, Harris S, Camargo LM, Malkov V, McIntosh AM, Millar JK, Blackwood DH, Evans KL, Deary IJ, Porteous DJ, McCombie WR. Rare disruptive variants in the DISC1 Interactome and Regulome: association with cognitive ability and schizophrenia. Mol Psychiatry. 2018;23(5):1270-1277. https://doi.org/10.1038/mp.2017.115
Scheggia D, Mastrogiacomo R, Mereu M, Sannino S, Straub RE, Armando M, Managò F, Guadagna S, Piras F, Zhang F, Kleinman JE, Hyde TM, Kaalund SS, Pontillo M, Orso G, Caltagirone C, Borrelli E, De Luca MA, Vicari S, Weinberger DR, Spalletta G, Papaleo F. Variations in Dysbindin-1 are associated with cognitive response to antipsychotic drug treatment. Nat Commun. 2018;9(1):2265. https://doi.org/10.1038/s41467-018-04711-w
Pickard BS, Malloy MP, Porteous DJ, Blackwood DH, Muir WJ. Disruption of a brain transcription factor, NPAS3, is associated with schizophrenia and learning disability. Am J Med Genet B Neuropsychiatr Genet. 2005; 136(1):26-32. https://doi.org/10.1002/ajmg.b.30204
Pickard BS, Pieper AA, Porteous DJ, Blackwood DH, Muir WJ. The NPAS3 gene — emerging evidence for a role in