Genome-wide association study detected novel susceptibility genes for social cognition impairment in people with schizophrenia

References

• Ables JL, Breunig JJ, Eisch AJ, Rakic P. 2011. Not(ch) just development: Notch signalling in the adult brain. Nat Rev Neurosci. 12(5):269–283.
   PubMed Web of Science ®Google Scholar
• Ackerman PL, Cianciolo AT. 2000. Cognitive, perceptual-speed, and psychomotor determinants of individual differences during skill acquisition. J Exp Psychol Appl. 6(4):259–290.
   PubMed Web of Science ®Google Scholar
• Arioli M, Crespi C, Canessa N. 2018. Social cognition through the lens of cognitive and clinical neuroscience. Biomed Res Int. 2018:4283427.
   PubMed Web of Science ®Google Scholar
• Baribeau DA, Anagnostou E. 2015. Oxytocin and vasopressin: linking pituitary neuropeptides and their receptors to social neurocircuits. Front Neurosci. 9:335.
   PubMed Web of Science ®Google Scholar
• Barlati S, Minelli A, Ceraso A, Nibbio G, Carvalho Silva R, Deste G, Turrina C, Vita A. 2020. Social cognition in a research domain criteria perspective: a bridge between schizophrenia and autism spectra disorders. Front Psychiatry. 11:806.
   PubMed Web of Science ®Google Scholar
• Bora E, Pantelis C. 2013. Theory of mind impairments in first-episode psychosis, individuals at ultra-high risk for psychosis and in first-degree relatives of schizophrenia: systematic review and meta-analysis. Schizophr Res. 144:31–36.
   Google Scholar
• Campbell NG, Zhu C-B, Lindler KM, Yaspan BL, Kistner-Griffin E, Hewlett WA, Tate CG, Blakely RD, Sutcliffe JS, NIH ARRA Consortium. 2013. Rare coding variants of the adenosine A3 receptor are increased in autism: on the trail of the serotonin transporter regulome. Mol Autism. 4(1):28.
   PubMedGoogle Scholar
• Chan RCK, Li H, Cheung EFC, Gong Q. 2010. Impaired facial emotion perception in schizophrenia: a meta-analysis. Psychiatry Res. 178(2):381–390.
   PubMed Web of Science ®Google Scholar
• Chang CC, Chow CC, Tellier LCAM, Vattikuti S, Purcell SM, Lee JJ. 2015. Second-generation PLINK: rising to the challenge of larger and richer datasets. Gigascience. 4(1):7.
   PubMedGoogle Scholar
• Chaves TF, Baretto N, Oliveira LF, Ocampos M, Barbato IT, Anselmi M, De LG, Barbato FJ, Pinto Ll de C, Bernardi P, et al. 2019. Copy number variations in a cohort of 420 individuals with neurodevelopmental disorders from the South of Brazil. Sci Rep. 9:17776.
   PubMed Web of Science ®Google Scholar
• Das S, Forer L, Schönherr S, Sidore C, Locke AE, Kwong A, Vrieze SI, Chew EY, Levy S, McGue M, et al. 2016. Next-generation genotype imputation service and methods. Nat Genet. 48(10):1284–1287.
   PubMed Web of Science ®Google Scholar
• de Leeuw CA, Mooij JM, Heskes T, Posthuma D. 2015. MAGMA: generalized gene-set analysis of GWAS data. PLoS Comput Biol. 11(4):e1004219.
   PubMed Web of Science ®Google Scholar
• Fernández M, Mollinedo-Gajate I, Peñagarikano O. 2018. Neural circuits for social cognition: implications for autism. Neuroscience. 370:148–162.
   PubMed Web of Science ®Google Scholar
• Ferri SL, Kreibich AS, Torre M, Piccoli CT, Dow H, Pallathra AA, Li H, Bilker WB, Gur RC, Abel T, et al. 2016. Activation of basolateral amygdala in juvenile C57BL/6J mice during social approach behavior. Neuroscience. 335:184–194.
   PubMed Web of Science ®Google Scholar
• Fett A-KJ, Viechtbauer W, Dominguez M-G, Penn DL, van Os J, Krabbendam L. 2011. The relationship between neurocognition and social cognition with functional outcomes in schizophrenia: a meta-analysis. Neurosci Biobehav Rev. 35(3):573–588.
   PubMed Web of Science ®Google Scholar
• Fox AS, Shackman AJ. 2019. The central extended amygdala in fear and anxiety: closing the gap between mechanistic and neuroimaging research. Neurosci Lett. 693:58–67.
   PubMed Web of Science ®Google Scholar
• Galderisi S, Rossi A, Rocca P, Bertolino A, Mucci A, Bucci P, Rucci P, Gibertoni D, Aguglia E, Amore M, et al. 2014. The influence of illness-related variables, personal resources and context-related factors on real-life functioning of people with schizophrenia. World Psychiatry. 13(3):275–287.
   PubMed Web of Science ®Google Scholar
• Giovedì S, Corradi A, Fassio A, Benfenati F. 2014. Involvement of synaptic genes in the pathogenesis of autism spectrum disorders: the case of Synapsins. Front Pediatr. 2:94.
   PubMed Web of Science ®Google Scholar
• Gottesman II, Gould TD. 2003. The endophenotype concept in psychiatry: etymology and strategic intentions. Am J Psychiatr. 160:636–645.
   Google Scholar
• Green MF, Bearden CE, Cannon TD, Fiske AP, Hellemann GS, Horan WP, Kee K, Kern RS, Lee J, Sergi MJ, et al. 2012. Social cognition in schizophrenia, part 1: performance across phase of illness. Schizophr Bull. 38(4):854–864.
   PubMed Web of Science ®Google Scholar
• Green MF, Horan WP, Lee J. 2015. Social cognition in schizophrenia. Nat Rev Neurosci. 16(10):620–631.
   PubMed Web of Science ®Google Scholar
• Green MF, Horan WP, Lee J. 2019. Nonsocial and social cognition in schizophrenia: current evidence and future directions. World Psychiatry. 18(2):146–161.
   PubMed Web of Science ®Google Scholar
• Green MF, Olivier B, Crawley JN, Penn DL, Silverstein S. 2005. Social cognition in schizophrenia: recommendations from the measurement and treatment research to improve cognition in schizophrenia new approaches conference. Schizophr Bull. 31(4):882–887.
   PubMed Web of Science ®Google Scholar
• Griswold AJ, Ma D, Cukier HN, Nations LD, Schmidt MA, Chung R-H, Jaworski JM, Salyakina D, Konidari I, Whitehead PL, et al. 2012. Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways. Hum Mol Genet. 21(15):3513–3523.
   PubMed Web of Science ®Google Scholar
• Hennessey T, Andari E, Rainnie DG. 2018. RDoC-based categorization of amygdala functions and its implications in autism. Neurosci Biobehav Rev. 90:115–129.
   PubMed Web of Science ®Google Scholar
• Homer BD, Solomon TM, Moeller RW, Mascia A, DeRaleau L, Halkitis PN. 2008. Methamphetamine abuse and impairment of social functioning: a review of the underlying neurophysiological causes and behavioral implications. Psychol Bull. 134(2):301–310.
   PubMed Web of Science ®Google Scholar
• Hoseth EZ, Krull F, Dieset I, Mørch RH, Hope S, Gardsjord ES, Steen NE, Melle I, Brattbakk H-R, Steen VM, et al. 2018. Attenuated Notch signaling in schizophrenia and bipolar disorder. Sci Rep. 8:5349.
   PubMed Web of Science ®Google Scholar
• Karpouzian TM, Alden EC, Reilly JL, Smith MJ. 2016. High functioning individuals with schizophrenia have preserved social perception but not mentalizing abilities. Schizophr Res. 171(1–3):137–139.
   PubMed Web of Science ®Google Scholar
• Kern RS, Gold JM, Dickinson D, Green MF, Nuechterlein KH, Baade LE, Keefe RS, Mesholam-Gately RI, Seidman LJ, Lee C, et al. 2011. The MCCB impairment profile for schizophrenia outpatients: results from the MATRICS psychometric and standardization study. Schizophr Res. 126(1–3):124–131.
   PubMed Web of Science ®Google Scholar
• Kerr SL, Neale JM. 1993. Emotion perception in schizophrenia: specific deficit or further evidence of generalized poor performance? J Abnorm Psychol. 102(2):312–318.
   PubMed Web of Science ®Google Scholar
• Lattanzi GM, Buzzanca A, Frascarelli M, Di Fabio F. 2018. Genetic and clinical features of social cognition in 22q11.2 deletion syndrome. J Neurosci Res. 96(10):1631–1640.
   PubMed Web of Science ®Google Scholar
• Lavoie MA, Plana I, Bedard Lacroix J, Godmaire-Duhaime F, Jackson PL, Achim AM. 2013. Social cognition in first-degree relatives of people with schizophrenia: a meta-analysis. Psychiatry Res. 209:129–135.
   Google Scholar
• Le Berre AP. 2019. Emotional processing and social cognition in alcohol use disorder. Neuropsychology. 33(6):808–821.
   PubMed Web of Science ®Google Scholar
• Lee K-M, Hwang S-K, Lee J-A. 2013. Neuronal autophagy and neurodevelopmental disorders. Exp Neurobiol. 22(3):133–142.
   PubMedGoogle Scholar
• Louvi A, Artavanis-Tsakonas S. 2006. Notch signalling in vertebrate neural development. Nat Rev Neurosci. 7(2):93–102.
   PubMed Web of Science ®Google Scholar
• Mafalda M, Marco C, Di Canitano R, Buoni S, Frullanti E, Mencarelli MA, Veronica B, Amabile S, Radice L, Baldassarri M, et al. 2016. A genome wide copy number variations analysis in autism spectrum disorder (Asd) and intellectual disability (Id) in Italian families. J Genet Syndr Gene Ther. 7:307.
   Google Scholar
• Mayer J, Salovey P, Caruso D. 2002. Mayer-Salovey-Caruso Emotional Intelligence TestTM (MSCEIT): users’ manual. MHS Assessments. Toronto, Ontario: Multi-Health Systems.
   Google Scholar
• McDonald S. 2013. Impairments in social cognition following severe traumatic brain injury. J Int Neuropsychol Soc. 19(3):231–246.
   PubMed Web of Science ®Google Scholar
• McDonald S, Bornhofen C, Shum D, Long E, Saunders C, Neulinger K. 2006. Reliability and validity of The Awareness of Social Inference Test (TASIT): a clinical test of social perception. Disabil Rehabil. 28(24):1529–1542.
   PubMed Web of Science ®Google Scholar
• Melis D, Genesio R, Cappuccio G, MariaGinocchio V, Della Casa R, Menna G, Buffardi S, Poggi V, Leszle A, Imperati F, et al. 2011. Mental retardation, congenital heart malformation, and myelodysplasia in a patient with a complex chromosomal rearrangement involving the critical region 21q22. Am J Med Genet. 155(7):1697–1705.
   Google Scholar
• Milanini B, Ciccarelli N, Fabbiani M, Limiti S, Grima P, Rossetti B, Visconti E, Tamburrini E, Cauda R, Di Giambenedetto S. 2016. Cognitive reserve and neuropsychological functioning in older HIV-infected people. J Neurovirol. 22(5):575–583.
   PubMed Web of Science ®Google Scholar
• Murphy BC, O’Reilly RL, Singh SM. 2008. DNA methylation and mRNA expression of SYN III, a candidate gene for schizophrenia. BMC Med Genet. 9:115.
   PubMed Web of Science ®Google Scholar
• Nevado J, Mergener R, Palomares-Bralo M, Souza KR, Vallespín E, Mena R, Martínez-Glez V, Mori MÁ, Santos F, García-Miñaur S, et al. 2014. New microdeletion and microduplication syndromes: a comprehensive review. Genet Mol Biol. 37(1 Suppl):210–219.
   PubMed Web of Science ®Google Scholar
• Pai S, Li P, Killinger B, Marshall L, Jia P, Liao J, Petronis A, Szabó PE, Labrie V. 2019. Differential methylation of enhancer at IGF2 is associated with abnormal dopamine synthesis in major psychosis. Nat Commun. 10(1):2046.
   PubMedGoogle Scholar
• Panagiotou OA, Willer CJ, Hirschhorn JN, Ioannidis JPA. 2013. The power of meta-analysis in genome-wide association studies. Annu Rev Genomics Hum Genet. 14:441–465.
   PubMed Web of Science ®Google Scholar
• Penn DL, Sanna LJ, Roberts DL. 2008. Social cognition in schizophrenia: an overview. Schizophr Bull. 34(3):408–411.
   PubMed Web of Science ®Google Scholar
• Pertz M, Okoniewski A, Schlegel U, Thoma P. 2020. Impairment of sociocognitive functions in patients with brain tumours. Neurosci Biobehav Rev. 108:370–392.
   PubMed Web of Science ®Google Scholar
• Prasad A, Merico D, Thiruvahindrapuram B, Wei J, Lionel AC, Sato D, Rickaby J, Lu C, Szatmari P, Roberts W, et al. 2012. A Discovery resource of rare copy number variations in individuals with autism spectrum disorder. G3 Genes Genomes Genet. 2:1665–1685.
   Web of Science ®Google Scholar
• Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MAR, Bender D, Maller J, Sklar P, de Bakker PIW, Daly MJ, et al. 2007. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet. 81(3):559–575.
   PubMed Web of Science ®Google Scholar
• Rocca P, Galderisi S, Rossi A, Bertolino A, Rucci P, Gibertoni D, Montemagni C, Sigaudo M, Mucci A, Bucci P, et al. 2016. Social cognition in people with schizophrenia: a cluster-analytic approach. Psychol Med. 46(13):2717–2729.
   PubMed Web of Science ®Google Scholar
• Romanelli MG, Lorenzi P, Diani E, Filippello A, Avesani F, Morandi C. 2012. Transcriptional regulation of the human Raver2 ribonucleoprotein gene. Gene. 493(2):243–252.
   PubMed Web of Science ®Google Scholar
• Savla GN, Vella L, Armstrong CC, Penn DL, Twamley EW. 2013. Deficits in domains of social cognition in schizophrenia: a meta-analysis of the empirical evidence. Schizophr Bull. 39(5):979–992.
   PubMed Web of Science ®Google Scholar
• Sessa P, Meconi F, Han S. 2014. Double dissociation of neural responses supporting perceptual and cognitive components of social cognition: evidence from processing of others’ pain. Sci Rep. 4:7424.
   PubMed Web of Science ®Google Scholar
• Sethi MK, Buettner FFR, Krylov VB, Takeuchi H, Nifantiev NE, Haltiwanger RS, Gerardy-Schahn R, Bakker H. 2010. Identification of glycosyltransferase 8 family members as xylosyltransferases acting on O-glucosylated notch epidermal growth factor repeats . J Biol Chem. 285(3):1582–1586.
   PubMed Web of Science ®Google Scholar
• Shao L-X, Jiang Q, Liu X-X, Gong D-M, Yin Y-X, Wu G, Sun N-H, Wang C-K, Chen Q-Z, Yu C, et al. 2019. Functional coupling of Tmem74 and HCN1 channels regulates anxiety-like behavior in BLA neurons. Mol Psychiatry. 24(10):1461–1477.
   PubMed Web of Science ®Google Scholar
• Sheffield JM, Karcher NR, Barch DM. 2018. Cognitive deficits in psychotic disorders: a lifespan perspective. Neuropsychol Rev. 28(4):509–533.
   PubMed Web of Science ®Google Scholar
• Steinmetz AB, Stern SA, Kohtz AS, Descalzi G, Alberini CM. 2018. Insulin-like growth factor II targets the mTOR pathway to reverse autism-like phenotypes in mice. J Neurosci. 38(4):1015–1029.
   PubMed Web of Science ®Google Scholar
• Stern SA, Chen DY, Alberini CM. 2014. The effect of insulin and insulin-like growth factors on hippocampus- and amygdala-dependent long-term memory formation. Learn Mem. 21(10):556–563.
   PubMed Web of Science ®Google Scholar
• Tager-Flusberg H, Sullivan K. 2000. A componential view of theory of mind: evidence from Williams syndrome. Cognition. 76(1):59–90.
   PubMed Web of Science ®Google Scholar
• Truitt WA, Sajdyk TJ, Dietrich AD, Oberlin B, McDougle CJ, Shekhar A. 2007. From anxiety to autism: spectrum of abnormal social behaviors modeled by progressive disruption of inhibitory neuronal function in the basolateral amygdala in Wistar rats. Psychopharmacology (Berl). 191(1):107–118.
   PubMed Web of Science ®Google Scholar
• Uliana DL, Resstel LBM, Grace AA. 2018. Fear extinction disruption in a developmental rodent model of schizophrenia correlates with an impairment in basolateral amygdala-medial prefrontal cortex plasticity. Neuropsychopharmacology. 43(12):2459–2467.
   PubMed Web of Science ®Google Scholar
• Wang Y, Zhao S, Liu X, Fu Q. 2014. Effects of the medial or basolateral amygdala upon social anxiety and social recognition in mice. Turk J Med Sci. 44(3):353–359.
   PubMed Web of Science ®Google Scholar
• Watanabe K, Taskesen E, van Bochoven A, Posthuma D. 2017. Functional mapping and annotation of genetic associations with FUMA. Nat Commun. 8(1):1826.
   PubMed Web of Science ®Google Scholar
• Wilczyński KM, Siwiec A, Janas-Kozik M. 2019. Systematic review of literature on single-nucleotide polymorphisms within the oxytocin and vasopressin receptor genes in the development of social cognition dysfunctions in individuals suffering from autism spectrum disorder. Front Psychiatry. 10:380.
   PubMed Web of Science ®Google Scholar
• Williams MR, Pattni S, Pearce RK, Hirsch SR, Maier M. 2016. Basolateral but not corticomedial amygdala shows neuroarchitectural changes in schizophrenia. J Neurosci Res. 94(6):544–547.
   PubMed Web of Science ®Google Scholar
• Yang Y, Wang J-Z. 2017. From structure to behavior in basolateral amygdala-hippocampus circuits. Front Neural Circuits. 11:86.
   PubMed Web of Science ®Google Scholar
• Yu C, Wang L, Lv B, Lu Y, Zeng L, Chen Y, Ma D, Shi T, Wang L. 2008. TMEM74, a lysosome and autophagosome protein, regulates autophagy. Biochem Biophys Res Commun. 369(2):622–629.
   PubMed Web of Science ®Google Scholar