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A polygenic burden of rare disruptive mutations in schizophrenia
Open accessAbstract
Schizophrenia is a common disease with a complex aetiology, probably involving multiple and heterogeneous genetic factors. Here, by analysing the exome sequences of 2,536 schizophrenia cases and 2,543 controls, we demonstrate a polygenic burden primarily arising from rare (less than 1 in 10,000), disruptive mutations distributed across many genes. Particularly enriched gene sets include the voltage-gated calcium ion channel and the signalling complex formed by the activity-regulated cytoskeleton-associated scaffold protein (ARC) of the postsynaptic density, sets previously implicated by genome-wide association and copy-number variation studies. Similar to reports in autism, targets of the fragile X mental retardation protein (FMRP, product of FMR1) are enriched for case mutations. No individual gene-based test achieves significance after correction for multiple testing and we do not detect any alleles of moderately low frequency (approximately 0.5 to 1 per cent) and moderately large effect. Taken together, these data suggest that population-based exome sequencing can discover risk alleles and complements established gene-mapping paradigms in neuropsychiatric disease.
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“These findings support our model in which CYFIP1 regulation of calcium channel subunits compromise intracellular calcium levels, resulting in delayed axonal development10,84,85 (Fig. 7).”
From CYFIP1 governs the development of cortical axons by modulating calcium availability (2025) · cites this paper as [10]
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“Additionally, a polygenic pattern including a rare heterozygous disruptive nonsense variant, p.Arg624Ter, in CYFIP1 was detected in a patient diagnosed with SCZ115 (Table 2n).”
From The WAVE complex in developmental and adulthood brain disorders (2025) · cites this paper as [115]
Experimental — accuracy not yet measuredIn the citing paper
“direct comparisons of the contributions of common and rare genetic variation show that common variation dominates heritable risk for SCZ and ASD (Gaugler et al., 2014; Purcell et al., 2014)”
From Defining the genetic, genomic, cellular, and diagnostic architectures of psychiatric disorders (2019) · cites this paper as Purcell et al., 2014
In the citing paper
“In the instances where this has been studied directly, polygenic risk acts additively with major mutational burdens (Gaugler et al., 2014; Niemi et al., 2018; Purcell et al., 2014; Weiner et al., 2017).”
From Defining the genetic, genomic, cellular, and diagnostic architectures of psychiatric disorders (2019) · cites this paper as Purcell et al., 2014
In the citing paper
“Thus, many severe mutations do not converge on one specific phenotype but instead seem to cause a range of clinical disorders74,76,80,81,84,87,91.”
From Systems biology and gene networks in neurodevelopmental and neurodegenerative disorders (2015) · cites this paper as [81]
In the citing paper
“Additionally, whole-exome sequencing studies of other neurodevelopmental disorders have found enrichment for FMRP targets in rare mutations in schizophrenia81, intellectual disability68 and epilepsy78.”
From Systems biology and gene networks in neurodevelopmental and neurodegenerative disorders (2015) · cites this paper as [81]
In the citing paper
“Earlier schizophrenia sequencing studies have established that ultra-rare and de novo mutations contribute to risk as a category, and have prioritized disease-relevant tissues and processes, specifically observing an enrichment in neuronal genes and synaptic processes9,11,19–23.”
From Rare coding variants in ten genes confer substantial risk for schizophrenia (2022) · cites this paper as [19]
In the citing paper
“among 5,092 (of the 12,332) individuals who were also part of an earlier sequencing study9, the additional data allowed us to re-classify ~66% of variants that had been “singletons” as segregating variants (not URVs in the current analysis).”
From Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia (2016) · cites this paper as [9]
In the citing paper
“A strong and consistent finding in exome-sequencing studies of schizophrenia involves an excess of variants in genes whose mRNAs are bound by the fragile X mental retardation protein (FMRP)9,12,27.”
From Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia (2016) · cites this paper as [9]
In the citing paper
“The observed enrichment was consistent across data from previously analyzed exomes9 and newly generated data (Supplementary Fig. 5); as the previously analyzed exomes were sequenced across randomized batches with equal number of cases and controls in each batch, this provides additional evidence that the enrichment is not due to technical effects.”
From Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia (2016) · cites this paper as [9]
In the citing paper
“The fact that an analysis of the current scale (4,877 cases, 6,203 controls, and 45,376 other genomes used to help identify ultra-rare variants) did not implicate individual genes of large effect in an unbiased exome-wide search – while documenting a very clear exome-wide elevation of hundreds of pathogenic variants across 4,877 individuals affected with schizophrenia relative to controls – lends”
From Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia (2016) · cites this paper as [9]
In the citing paper
“Psychiatric cases with a diagnosis of schizophrenia or bipolar disorder were ascertained from the Swedish National Hospital Discharge Register as described in previous studies9,50, which captures all inpatient hospitalizations. Controls were randomly selected from population registers.”
From Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia (2016) · cites this paper as [9]
In the citing paper
“SCZ is truly complex and appears to result from a myriad of genetic variants exerting small effects on disease risk4,5, conforming closely to a classical polygenic model.”
From Gene expression elucidates functional impact of polygenic risk for schizophrenia (2016) · cites this paper as [5]
In the citing paper
“SCZ is truly complex and appears to result from a myriad of genetic variants exerting small effects on disease risk4,5, conforming closely to a classical polygenic model.”
From Gene expression elucidates functional impact of polygenic risk for schizophrenia (2016) · cites this paper as [5]
In the citing paper
“The available data are incomplete but implicate synaptic components, including calcium channel subunits and post-synaptic elements5–7.”
From Gene expression elucidates functional impact of polygenic risk for schizophrenia (2016) · cites this paper as [5]
In the citing paper
“We note that strong, independent support of our findings comes from the observation that analyses of rare variants have also implicated postsynaptic pathways in SCZ etiology23,24, suggesting that both rare and common variants are relevant.”
From Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways (2015) · cites this paper as [24]
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Cites
Fast and accurate short read alignment with Burrows-Wheeler transform
Li, H., & Durbin, R. (2009) · Bioinformatics · doi:10.1093/bioinformatics/btp324 · Cited by 58,607
A framework for variation discovery and genotyping using next-generation DNA sequencing data
DePristo, M. A., Banks, E., Poplin, R. E., Garimella, K. V., Maguire, J., Hartl, C., Philippakis, A., del Angel, G., Rivas, M. A., Hanna, M., et al. (2011) · Nature Genetics · doi:10.1038/ng.806 · Cited by 11,457
Self-citationCommon polygenic variation contributes to risk of schizophrenia and bipolar disorder
The International Schizophrenia Consortium (2009) · Nature · doi:10.1038/nature08185 · Cited by 4,821
Self-citation(2013) · The Lancet · doi:10.1016/s0140-6736(12)62129-1 · Cited by 3,010
Rare-Variant Association Testing for Sequencing Data with the Sequence Kernel Association Test
Wu, M. C., Lee, S., Cai, T., Li, Y., Boehnke, M., & Lin, X. (2011) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.05.029 · Cited by 2,373
Schizophrenia as a Complex Trait: Evidence From a Meta-analysis of Twin Studies
Sullivan, P. F., Kendler, K. S., & Neale, M. C. (2003) · Archives of General Psychiatry · doi:10.1001/archpsyc.60.12.1187 · Cited by 2,356
Self-citationSporadic autism exomes reveal a highly interconnected protein network of de novo mutations
O’Roak, B. J., Vives, L., Girirajan, S., Karakoc, E., Krumm, N., Coe, B. P., Levy, R., Ko, A., Lee, C., Smith, J. D., et al. (2012) · Nature · doi:10.1038/nature10989 · Cited by 2,165
Lichtenstein, P., Yip, B. H., Björk, C., Pawitan, Y., Cannon, T. D., Sullivan, P. F., & Hultman, C. M. (2009) · The Lancet · doi:10.1016/s0140-6736(09)60072-6 · Cited by 2,125
Self-citationDe novo mutations revealed by whole-exome sequencing are strongly associated with autism
Sanders, S. J., Murtha, M. T., Gupta, A. R., Murdoch, J. D., Raubeson, M. J., Willsey, A. J., Ercan-Sencicek, A. G., DiLullo, N. M., Parikshak, N. N., Stein, J. L., et al. (2012) · Nature · doi:10.1038/nature10945 · Cited by 2,084
FMRP Stalls Ribosomal Translocation on mRNAs Linked to Synaptic Function and Autism
Darnell, J. C., Van Driesche, S. J., Zhang, C., Hung, K. Y. S., Mele, A., Fraser, C. E., Stone, E. F., Chen, C., Fak, J. J., Chi, S. W., et al. (2011) · Cell · doi:10.1016/j.cell.2011.06.013 · Cited by 2,072
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Hartwig, C. L., Monis, W. J., Chen, X., Dickman, D. K., Pazour, G. J., & Faúndez, V. (2017) · Developmental Neurobiology · doi:10.1002/dneu.22542 · Cited by 29
Taylor, M. J., Robinson, E., Happe, F. G. E., Bolton, P., Freeman, D. H., & Ronald, A. (2015) · Molecular Autism · doi:10.1186/s13229-015-0037-9 · Cited by 29
FMRP and CYFIP1 at the Synapse and Their Role in Psychiatric Vulnerability
Clifton, N. E., Thomas, K. L., Wilkinson, L. S., Hall, J., & Trent, S. (2020) · Complex Psychiatry · doi:10.1159/000506858 · Cited by 28
Hrovatin, K., Kunej, T., & Dolžan, V. (2019) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32766 · Cited by 28
Low-Level Brain Somatic Mutations Are Implicated in Schizophrenia
Kim, M.-H., Kim, I. B., Lee, J., Cha, D. H., Park, S. M., Kim, J. H., Kim, R., Park, J. S., An, Y., Kim, K., et al. (2021) · Biological Psychiatry · doi:10.1016/j.biopsych.2021.01.014 · Cited by 28
Kalscheuer, V. M., James, V. M., Himelright, M. L., Long, P., Oegema, R., Jensen, C., Bienek, M., Hu, H., Haas, S. A., Topf, M., et al. (2016) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2015.00085 · Cited by 28
Qvist, P., Christensen, J., Vardya, I., Rajkumar, A. P., Mørk, A., Paternoster, V., Füchtbauer, E., Pallesen, J., Fryland, T., Dyrvig, M., et al. (2016) · Biological Psychiatry · doi:10.1016/j.biopsych.2016.08.037 · Cited by 28
Systems-level analysis of risk genes reveals the modular nature of schizophrenia
Liu, J., Li, M., Luo, X., & Su, B. (2018) · Schizophrenia Research · doi:10.1016/j.schres.2018.05.015 · Cited by 28
Rare variants and de novo variants in mesial temporal lobe epilepsy with hippocampal sclerosis
Wong, J., Gui, H., Kwok, M., Ng, P. W., Lui, C. H. T., Baum, L., Sham, P. C., Kwan, P., & Cherny, S. S. (2018) · Neurology Genetics · doi:10.1212/nxg.0000000000000245 · Cited by 28
Schoonover, K. E., Queern, S. L., Lapi, S. E., & Roberts, R. C. (2018) · The World Journal of Biological Psychiatry · doi:10.1080/15622975.2018.1523562 · Cited by 28
Genetic risk for schizophrenia and autism, social impairment and developmental pathways to psychosis
Velthorst, E., Froudist‐Walsh, S., Stahl, E. A., Ruderfer, D. M., Ivanov, I., Buxbaum, J. D., Børglum, A. D., Grove, J., Mattheisen, M., Werge, T. M., et al. (2018) · Translational Psychiatry · doi:10.1038/s41398-018-0229-0 · Cited by 28
Self-citationA large‐scale exome array analysis of venous thromboembolism
Lindström, S., Brody, J. A., Turman, C., Germain, M., Bartz, T. M., Smith, E. N., Chen, M., Puurunen, M. K., Chasman, D. I., Hassler, J., et al. (2019) · Genetic Epidemiology · doi:10.1002/gepi.22187 · Cited by 28
Kranz, T. M., Berns, A., Shields, J., Rothman, K., Walsh‐Messinger, J., Goetz, R. R., Chao, M. V., & Malaspina, D. (2016) · EBioMedicine · doi:10.1016/j.ebiom.2016.03.008 · Cited by 27
Contextualizing genetic risk score for disease screening and rare variant discovery
Zhou, D., Yu, D., Scharf, J. M., Mathews, C. A., McGrath, L. M., Cook, E. H., Lee, S., Davis, L. K., & Gamazon, E. R. (2021) · Nature Communications · doi:10.1038/s41467-021-24387-z · Cited by 28
The Long Non-Coding RNA GOMAFU in Schizophrenia: Function, Disease Risk, and Beyond
Zakutansky, P. M., & Feng, Y. (2022) · Cells · doi:10.3390/cells11121949 · Cited by 27
Translating Human Genetics into Novel Treatment Targets for Schizophrenia
Schubert, C. R., Xi, H. S., Wendland, J. R., & O’Donnell, P. (2014) · Neuron · doi:10.1016/j.neuron.2014.10.037 · Cited by 27
Genetics implicate common mechanisms in autism and schizophrenia: synaptic activity and immunity
Liu, X., Li, Z., Fan, C., Zhang, D., & Chen, J. (2017) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2016-104487 · Cited by 27
Li, J., Jiang, Y. W., Wang, T., Chen, H., Xie, Q. S., Shao, Q., Xia, R., Xia, K., Sun, Z. S., & Wu, J. (2015) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2014-102656 · Cited by 26
Understanding the genetic liability to schizophrenia through the neuroepigenome
Fullard, J. F., Halene, T. B., Giambartolomei, C., Haroutunian, V. H., Akbarian, S., & Roussos, P. (2016) · Schizophrenia Research · doi:10.1016/j.schres.2016.01.039 · Cited by 26
Self-citationStem cell models of schizophrenia, what have we learned and what is the potential?
Moslem, M., Olive, J. F., & Falk, A. (2018) · Schizophrenia Research · doi:10.1016/j.schres.2018.12.023 · Cited by 26
Liu, J., Li, S., Li, X., Li, W., Yang, Y., Guo, S., Lv, L., Xiao, X., Yao, Y., Guan, F., et al. (2021) · BMC Medicine · doi:10.1186/s12916-021-02039-9 · Cited by 26
SAPAP Scaffold Proteins: From Synaptic Function to Neuropsychiatric Disorders
Bai, Y., Wang, H., & Li, C. (2022) · Cells · doi:10.3390/cells11233815 · Cited by 26
Genetic underpinnings of left superior temporal gyrus thickness in patients with schizophrenia
Wolthusen, R. P. F., Haß, J., Walton, E., Turner, J. A., Roessner, V., Sponheim, S. R., Ho, B., Holt, D. J., Gollub, R. L., Calhoun, V. D., et al. (2015) · PubMed · doi:10.6084/m9.figshare.1568480 · Cited by 26
A schizophrenia-associated HLA locus affects thalamus volume and asymmetry
Brucato, N., Guadalupe, T. M., Franke, B., Fisher, S. E., & Francks, C. (2015) · Brain Behavior and Immunity · doi:10.1016/j.bbi.2015.02.021 · Cited by 26
Nucifora, L. G., Wu, Y. C., Lee, B. J., Sha, L., Margolis, R. L., Ross, C. A., Sawa, A., & Nucifora, F. C. (2016) · Complex Psychiatry · doi:10.1159/000447358 · Cited by 26
Yang, F., Zhu, X.-H., Zhang, Q., Sun, N., Ji, Y., Ma, J., Xiao, B., Ding, H., Sun, S., & Li, W. (2017) · Scientific Reports · doi:10.1038/s41598-017-08655-x · Cited by 26
Miller, J. A., Scult, M. A., Drabant, E. M., Chen, Q., Weinberger, D. R., & Hariri, A. R. (2017) · Schizophrenia Bulletin · doi:10.1093/schbul/sbx140 · Cited by 26
Paolantoni, C., Ricciardi, S., Paolis, V. D., Okenwa, C., Catalanotto, C., Ciotti, M. T., Cattaneo, A., Cogoni, C., & Giorgi, C. (2018) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2018.00145 · Cited by 26
Treatment-Resistant Schizophrenia: Insights From Genetic Studies and Machine Learning Approaches
Pisanu, C., & Squassina, A. (2019) · Frontiers in Pharmacology · doi:10.3389/fphar.2019.00617 · Cited by 26
Bobsin, K., & Kreienkamp, H. (2015) · Journal of Neurochemistry · doi:10.1111/jnc.13428 · Cited by 26
Longitudinal analytical approaches to genetic data
Chiu, Y., Justice, A. E., & Melton, P. E. (2016) · BMC Genetics · doi:10.1186/s12863-015-0312-y · Cited by 26
Magri, C., Giacopuzzi, E., Via, L. L., Bonini, D., Ravasio, V., Elhussiny, M. E. A., Orizio, F., Gangemi, F., Valsecchi, P., Bresciani, R., et al. (2018) · Scientific Reports · doi:10.1038/s41598-018-33924-8 · Cited by 25
Hathy, E., Szabó, E., Varga, N., Erdei, Z., Tordai, C., Czehlár, B., Baradits, M., Jezsó, B., Koller, J., Nagy, L., et al. (2020) · Stem Cell Research & Therapy · doi:10.1186/s13287-020-01980-5 · Cited by 25
Shepard, N., Báez-Nieto, D., Iqbal, S., Kurganov, E., Budnik, N., Campbell, A. J., Pan, J. Q., Sheng, M., & Farsi, Z. (2024) · Scientific Reports · doi:10.1038/s41598-024-53102-3 · Cited by 25
Biological pathways and networks implicated in psychiatric disorders
Sullivan, P. F., & Posthuma, D. (2014) · Current Opinion in Behavioral Sciences · doi:10.1016/j.cobeha.2014.09.003 · Cited by 25
Self-citationPerformance of case-control rare copy number variation annotation in classification of autism
Engchuan, W., Dhindsa, K., Lionel, A. C., Scherer, S. W., Chan, J. H., & Merico, D. (2015) · BMC Medical Genomics · doi:10.1186/1755-8794-8-s1-s7 · Cited by 25
Haddad, S. A., Ruiz-Narváez, E., Haiman, C. A., Sucheston‐Campbell, L. E., Bensen, J. T., Zhu, Q., Liu, S., Yao, S., Bandera, E. V., Rosenberg, L. A., et al. (2016) · Carcinogenesis · doi:10.1093/carcin/bgw067 · Cited by 25
Curtis, D., Coelewij, L., Liu, S.-H., Humphrey, J., & Mott, R. (2018) · Behavior Genetics · doi:10.1007/s10519-018-9893-3 · Cited by 25
Stereological Assessments of Neuronal Pathology in Auditory Cortex in Schizophrenia
Parker, E. M., & Sweet, R. A. (2018) · Frontiers in Neuroanatomy · doi:10.3389/fnana.2017.00131 · Cited by 25
Jansen, P. R., Muetzel, R. L., Polderman, T. J. C., Jaddoe, V. W. V., Verhulst, F. C., van der Lugt, A., Tiemeier, H. W., Posthuma, D., & White, T. J. H. (2018) · Biological Psychiatry Cognitive Neuroscience and Neuroimaging · doi:10.1016/j.bpsc.2018.07.010 · Cited by 25
Exome-Derived Adiponectin-Associated Variants Implicate Obesity and Lipid Biology
Spracklen, C. N., Karaderi, T., Yaghootkar, H., Schurmann, C., Fine, R. S., Kutalik, Z., Preuss, M. H., Lu, Y., Wittemans, L. B. L., Adair, L. S., et al. (2019) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2019.05.002 · Cited by 25
Curtis, D. (2018) · European Journal of Human Genetics · doi:10.1038/s41431-018-0272-6 · Cited by 25
Cottee, M. A., Letham, S. C., Young, G. R., Stoye, J. P., & Taylor, I. A. (2020) · Science Advances · doi:10.1126/sciadv.aay6354 · Cited by 25
The Synaptic Dysregulation in Adolescent Rats Exposed to Maternal Immune Activation
Cieślik, M., Gąssowska-Dobrowolska, M., Zawadzka, A., Frontczak‐Baniewicz, M., Gewartowska, M., Dominiak, A., Czapski, G. A., & Adamczyk, A. (2021) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2020.555290 · Cited by 25
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Deans, P. J. M., & Brennand, K. (2021) · Current Opinion in Neurobiology · doi:10.1016/j.conb.2021.04.003 · Cited by 25
The Role of Metabotropic Glutamate Receptor Genes in Schizophrenia
Maj, C., Minelli, A., Giacopuzzi, E., Sacchetti, E., & Gennarelli, M. (2015) · Current Neuropharmacology · doi:10.2174/1570159x13666150514232745 · Cited by 24
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Liu, M., Malone, S. M., Vaidyanathan, U., Keller, M. C., Abecasis, G. R., McGue, M. K., Iacono, W. G., & Vrieze, S. I. (2016) · Psychological Medicine · doi:10.1017/s0033291716003184 · Cited by 24
Zhao, J., Liu, X., Huo, C., Zhao, T., & Ye, H. (2018) · Neuroscience · doi:10.1016/j.neuroscience.2018.07.046 · Cited by 24
The ANKS1B Gene and its Associated Phenotypes: Focus on CNS Drug Response
Younis, R. M., Taylor, R. M., Beardsley, P. M., & McClay, J. L. (2019) · Pharmacogenomics · doi:10.2217/pgs-2019-0015 · Cited by 24
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Cha, D. H., Gee, H. Y., Cachau, R. E., Choi, J. M., Park, D., Jee, S. H., Ryu, S., Kim, K. K., Won, H., Limou, S., et al. (2019) · Scientific Reports · doi:10.1038/s41598-019-50798-6 · Cited by 24
Kay, Y., Tsan, L., Davis, E. A., Tian, C., Décarie-Spain, L., Sadybekov, A., Pushkin, A. N., Katritch, V., Kanoski, S. E., & Herring, B. E. (2022) · Nature Communications · doi:10.1038/s41467-022-28430-5 · Cited by 24
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Yue, W., Huang, H., & Duan, J. (2022) · Medical Review · doi:10.1515/mr-2022-0009 · Cited by 24
Jiao, S., Cao, T., & Cai, H. (2022) · Frontiers in Pharmacology · doi:10.3389/fphar.2022.1005702 · Cited by 25
Kathuria, A., Lopez-Lengowski, K., Watmuff, B., & Karmacharya, R. (2023) · Genome Medicine · doi:10.1186/s13073-023-01203-5 · Cited by 24
The Future of Neuroepigenetics in the Human Brain
Mitchell, A., Roussos, P., Peter, C. J., Tsankova, N. M., & Akbarian, S. (2014) · Progress in molecular biology and translational science · doi:10.1016/b978-0-12-800977-2.00008-5 · Cited by 24
Self-citationGenome-wide burden of deleterious coding variants increased in schizophrenia
Loohuis, L. M. O., Vorstman, J. A. S., Ori, A. P. S., Staats, K. A., Wang, T., Richards, A. L., Leonenko, G., Walters, J., DeYoung, J. A., Kahn, R. S., et al. (2015) · Nature Communications · doi:10.1038/ncomms8501 · Cited by 24
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Chuang, Y.-A., Hu, T., Chen, C., Hsu, S.-H., Tsai, H.-Y., & Cheng, M.-C. (2016) · Schizophrenia Research · doi:10.1016/j.schres.2016.07.019 · Cited by 24
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de Maturana, E. L., Pineda, S., Brand, A. M., Steen, K. V., & Malats, N. (2016) · Genetic Epidemiology · doi:10.1002/gepi.21992 · Cited by 24
Buonaguro, E. F., Iasevoli, F., Marmo, F., Eramo, A., Latte, G., Avagliano, C., Tomasetti, C., & de Bartolomeis, A. (2017) · Progress in Neuro-Psychopharmacology and Biological Psychiatry · doi:10.1016/j.pnpbp.2017.02.012 · Cited by 24
Clair, D. S., & Johnstone, M. (2018) · Philosophical Transactions of the Royal Society B Biological Sciences · doi:10.1098/rstb.2017.0037 · Cited by 24
Estimating contribution of rare non‐coding variants to neuropsychiatric disorders
Takata, A. (2018) · Psychiatry and Clinical Neurosciences · doi:10.1111/pcn.12774 · Cited by 24
Chromatin profiling of cortical neurons identifies individual epigenetic signatures in schizophrenia
Gusev, F. E., Reshetov, D. A., Mitchell, A., Андреева, Т. В., Dincer, A., Grigorenko, A. P., Fedonin, G. G., Halene, T. B., Aliseychik, M., Filippova, E., et al. (2019) · Translational Psychiatry · doi:10.1038/s41398-019-0596-1 · Cited by 24
Caponnetto, P., Polosa, R., Robson, D., & Bauld, L. (2020) · Health Psychology Research · doi:10.4081/hpr.2020.9042 · Cited by 24
Khan, Z. U., Carretero‐Rey, M., de León-López, C. A. M., & Navarro‐Lobato, I. (2025) · Molecular Neurobiology · doi:10.1007/s12035-025-05203-x · Cited by 28
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Clifton, N. E., Collado‐Torres, L., Burke, E. E., Pardiñas, A. F., Harwood, J. C., Florio, A. D., Walters, J., Owen, M. J., O’Donovan, M. C., Weinberger, D. R., et al. (2021) · Biological Psychiatry · doi:10.1016/j.biopsych.2021.03.009 · Cited by 25
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Bilecki, W., & Maćkowiak, M. (2023) · Genes · doi:10.3390/genes14020243 · Cited by 23
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McClellan, J., Zoghbi, A. W., Buxbaum, J. D., Cappi, C., Crowley, J. J., Flint, J., Grice, D. E., Gülsüner, S., Iyegbe, C. O., Jain, S., et al. (2023) · Neuron · doi:10.1016/j.neuron.2023.10.037 · Cited by 25
Peng, X., Yang, Y., Hou, R., Zhang, L., Shen, C., Yang, X., Luo, Z., Yin, Z., & Cao, Y. (2024) · Drug Design Development and Therapy · doi:10.2147/dddt.s460448 · Cited by 23
Voltage‐gated calcium channels – from basic mechanisms to disease
Striessnig, J. (2016) · The Journal of Physiology · doi:10.1113/jp272619 · Cited by 23
Chemogenomic analysis reveals key role for lysine acetylation in regulating Arc stability
Lalonde, J., Reis, S. A., Sivakumaran, S., Holland, C. S., Wesseling, H., Sauld, J. F. K., Alural, B., Zhao, W., Steen, J. A. J., & Haggarty, S. J. (2017) · Nature Communications · doi:10.1038/s41467-017-01750-7 · Cited by 23
Self-citationSalvoro, C., Bortoluzzi, S., Coppe, A., Valle, G., Feltrin, E., Mostacciuolo, M. L., & Vazza, G. (2018) · Molecular Neurobiology · doi:10.1007/s12035-018-0922-2 · Cited by 23
Corominas, J., Klein, M., Zayats, T., Rivero, O., Ziegler, G. C., Pauper, M., Neveling, K., Poelmans, G., Jansch, C., Svirin, E. P., et al. (2018) · Molecular Psychiatry · doi:10.1038/s41380-018-0210-6 · Cited by 23
Qvist, P., Eskildsen, S. F., Hansen, B., Baragji, M., Ringgaard, S., Roovers, J., Paternoster, V., Molgaard, S., Corydon, T. J., Stødkilde-Jørgensen, H., et al. (2018) · Scientific Reports · doi:10.1038/s41598-018-34729-5 · Cited by 23
Identifying nootropic drug targets via large-scale cognitive GWAS and transcriptomics
Lam, M., Chen, C., Ge, T., Xia, Y., Hill, D. W., Trampush, J. W., Yu, J., Knowles, E., Davies, G., Stahl, E. A., et al. (2021) · Neuropsychopharmacology · doi:10.1038/s41386-021-01023-4 · Cited by 23
Self-citationSong, J., Yao, S., Kowalec, K., Lu, Y., Sariaslan, A., Szatkiewicz, J., Larsson, H., Lichtenstein, P., Hultman, C. M., & Sullivan, P. F. (2022) · Molecular Psychiatry · doi:10.1038/s41380-022-01500-2 · Cited by 23
Self-citationKos, M. Z., Carless, M. A., Peralta, J. M., Blackburn, A. N., Almeida, M., Roalf, D. R., Pogue‐Geile, M. F., Prasad, K. M. R., Gur, R. C., Nimgaonkar, V. L., et al. (2015) · Schizophrenia Bulletin · doi:10.1093/schbul/sbv135 · Cited by 23
Clinical Trials and Therapeutic Rationale for Drug Repurposing in Schizophrenia
Lago, S. G., & Bahn, S. (2018) · ACS Chemical Neuroscience · doi:10.1021/acschemneuro.8b00205 · Cited by 23
Context-Aware Prediction of Pathogenicity of Missense Mutations Involved in Human DiseasePreprint
Feinauer, C., & Weigt, M. (2017) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/103051 · Cited by 23
Whole‐gene sequencing investigation ofSAT1in attempted suicide
Monson, E. T., de Klerk, K., Gaynor, S. C., Wagner, A. H., Breen, M. E., Parsons, M. G., Casavant, T. L., Zandi, P. P., Potash, J. B., & Willour, V. L. (2016) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32462 · Cited by 22
Bipolar disorders and schizophrenia: discrete disorders?
Dines, M., Kes, M., Ailán, D., Cetkovich, M., Born, C., & Grunze, H. (2024) · Frontiers in Psychiatry · doi:10.3389/fpsyt.2024.1352250 · Cited by 22
Genomics and predictive medicine
Баранов, В. С. (2021) · Сибирский журнал клинической и экспериментальной медицины · doi:10.29001/2073-8552-2021-36-4-14-28 · Cited by 22
de Bartolomeis, A., Vellucci, L., Simone, G. D., Mazza, B., Barone, A., & Ciccarelli, M. (2023) · Cells · doi:10.3390/cells12040574 · Cited by 22
Potential Value of Genomic Copy Number Variations in Schizophrenia
Zhuo, C., Hou, W., Lin, C., Hu, L., & Li, J. (2017) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2017.00204 · Cited by 22
Ca2+‐Dependent Hyperpolarization Pathways in Sleep Homeostasis and Mental Disorders
Shi, S., & Ueda, H. R. (2017) · BioEssays · doi:10.1002/bies.201700105 · Cited by 22
Pujol, C., Pellissier, L. P., Clément, C., Becker, J. A. J., & Merrer, J. L. (2018) · Translational Psychiatry · doi:10.1038/s41398-018-0247-y · Cited by 22
Exome sequencing in large, multiplex bipolar disorder families from Cuba
Maaser, A., Forstner, A. J., Strohmaier, J., Hecker, J., Ludwig, K. U., Sivalingam, S., Streit, F., Degenhardt, F., Witt, S. H., Reinbold, C. S., et al. (2018) · PLoS ONE · doi:10.1371/journal.pone.0205895 · Cited by 22
Chen, X., Duan, H.-F., Xiao, L., & Gan, J. (2018) · Frontiers in Genetics · doi:10.3389/fgene.2018.00565 · Cited by 22
Paternoster, V., Svanborg, M., Edhager, A. V., Rajkumar, A. P., Eickhardt, E. A., Pallesen, J., Grove, J., Qvist, P., Fryland, T., Wegener, G., et al. (2018) · Neurobiology of Disease · doi:10.1016/j.nbd.2018.12.011 · Cited by 22
Hayata‐Takano, A., Kamo, T., Kijima, H., Seiriki, K., Ogata, K., Ago, Y., Nakazawa, T., Shintani, Y., Higashino, K., Nagayasu, K., et al. (2019) · Journal of Neuroscience · doi:10.1523/jneurosci.2468-18.2019 · Cited by 22
Evidence of association of the DISC1 interactome gene set with schizophrenia from GWAS
Facal, F., & Costas, J. (2019) · Progress in Neuro-Psychopharmacology and Biological Psychiatry · doi:10.1016/j.pnpbp.2019.109729 · Cited by 22
The proteome and its dynamics: A missing piece for integrative multi-omics in schizophrenia
Borgmann‐Winter, K. E., Wang, K., Bandyopadhyay, S., Torshizi, A. D., Blair, I. A., & Hahn, C.-G. (2019) · Schizophrenia Research · doi:10.1016/j.schres.2019.07.025 · Cited by 22
Kim, H. I., Ye, B., Gosalia, N., Köroğlu, Ç., Hanson, R. L., Hsueh, W., Knowler, W. C., Baier, L. J., Bogardus, C., Shuldiner, A. R., et al. (2020) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2020.06.009 · Cited by 22
Curtis, D. (2015) · Annals of Human Genetics · doi:10.1111/ahg.12135 · Cited by 22
Shao, L., Lu, B., Wen, Z., Teng, S., Wang, L., Zhao, Y. C., Wang, L., Ishizuka, K., Xu, X., Sawa, A., et al. (2017) · Human Molecular Genetics · doi:10.1093/hmg/ddx147 · Cited by 22
Cognitive endophenotypes inform genome-wide expression profiling in schizophrenia.
Zheutlin, A. B., Viehman, R., Fortgang, R. G., Borg, J., Smith, D., Suvisaari, J., Therman, S., Hultman, C. M., & Cannon, T. D. (2015) · Neuropsychology · doi:10.1037/neu0000244 · Cited by 21
Self-citationExome array analysis suggests an increased variant burden in families with schizophrenia
McCarthy, N. S., Melton, P. E., Ward, S. V., Allan, S. M., Dragović, M., Clark, M. L., Morar, B., Rubio, J. P., Blangero, J., Badcock, J. C., et al. (2016) · Schizophrenia Research · doi:10.1016/j.schres.2016.12.007 · Cited by 21
Gene expression changes following chronic antipsychotic exposure in single cells from mouse striatum
Abrantes, A., Giusti‐Rodríguez, P., Ancalade, N., Sekle, S., Basiri, M. L., Stuber, G. D., Sullivan, P. F., & Hultman, R. C. (2022) · Molecular Psychiatry · doi:10.1038/s41380-022-01509-7 · Cited by 24
Self-citationFjodorova, M., Noakes, Z., de la Fuente, D. C., Errington, A. C., & Li, M. (2022) · Biological Psychiatry Global Open Science · doi:10.1016/j.bpsgos.2022.03.010 · Cited by 21
Marballi, K. K., Alganem, K., Brunwasser, S. J., Barkatullah, A., Meyers, K. T., Campbell, J. M., Ozols, A. B., McCullumsmith, R. E., & Gallitano, A. L. (2022) · Translational Psychiatry · doi:10.1038/s41398-022-02069-8 · Cited by 21
Unlocking the Treasure Trove: From Genes to Schizophrenia Biology
McCarthy, S. E., McCombie, W. R., & Corvin, A. P. (2014) · Schizophrenia Bulletin · doi:10.1093/schbul/sbu042 · Cited by 21
Metadata
- Authors
- Purcell, S. M., Moran, J. L., Fromer, M., Ruderfer, D., Solovieff, N., Roussos, P., O’Dushlaine, C., Chambert, K., Bergen, S. E., Kähler, A., Duncan, L., Stahl, E., Genovese, G., Fernández, E., Collins, M. O., Komiyama, N. H., Choudhary, J. S., Magnusson, P. K. E., Banks, E., Shakir, K., Garimella, K., Fennell, T., DePristo, M., Grant, S. G. N., Haggarty, S. J., Gabriel, S., Scolnick, E. M., Lander, E. S., Hultman, C. M., Sullivan, P. F., McCarroll, S. A., & Sklar, P.
- Affiliations
- Broad Institute (US)
- Icahn School of Medicine at Mount Sinai (US)
- Massachusetts General Hospital (US)
- Karolinska Institutet (SE)
- KU Leuven (BE)
- Wellcome Sanger Institute (GB)
- University of Edinburgh (GB)
- University of North Carolina at Chapel Hill (US)
- Corresponding author
- Purcell, Shaun M.
- ORCID
- Purcell, Shaun M.
- Moran, Jennifer L.
- Fromer, Menachem
- Ruderfer, Douglas
- Solovieff, Nadia
- Roussos, Panos
- Bergen, Sarah E.
- Kähler, Anna
- Duncan, Laramie
- Genovese, Giulio
- Fernández, Esperanza
- Collins, Mark O.
- Komiyama, Noboru H.
- Choudhary, Jyoti S.
- Magnusson, Patrik K. E.
- Banks, Eric
- Garimella, Kiran
- Fennell, Tim
- Grant, Seth G. N.
- Haggarty, Stephen J.
- Gabriel, Stacey
- Scolnick, Edward M.
- Lander, Eric S.
- Sullivan, Patrick F.
- McCarroll, Steven A.
- Sklar, Pamela
- Venue
- Nature
- Published
- 2014-01-22
- Volume
- 506
- Issue
- 7487
- Pages
- 185-190
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- PMC
- PMC4136494
- OpenAlex
- W2132297623
- Cited by
- 1,385
- References
- 52
- Citations by year
- 2026: 23 · 2025: 39 · 2024: 34 · 2023: 60 · 2022: 96 · 2021: 98 · 2020: 123 · 2019: 145 · 2018: 158 · 2017: 169 · 2016: 169 · 2015: 158 · 2014: 113
- FWCI
- 154.88
- Type
- journal article
- Language
- en
- Open access
- Locations
- Nature (publishedVersion)
- PubMed (publishedVersion)
- White Rose Research Online (University of Leeds, The University of Sheffield, University of York) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Carolina Digital Repository (University of North Carolina at Chapel Hill) (submittedVersion)
- RePEc: Research Papers in Economics (submittedVersion)
- UNC Libraries
- Funders
- U.S. Department of Veterans Affairs (I01BX002395)
- Wellcome Trust
- European Commission (242167, 241995)
- Nederlandse Organisatie voor Wetenschappelijk Onderzoek (645-000-003)
- Karolinska Institutet
- Vetenskapsrådet (R01 MH077139)
- National Institutes of Health (241995)
- Stanley Center for Psychiatric Research, Broad Institute
- Medical Research Council
- National Heart, Lung, and Blood Institute
- National Institute of Mental Health (R01MH077139, T32MH017119, TT32MH017119, R01MH095088, RC2MH089905, R01MH095034, MH077139, R01MH091115, R01MH099126)
- National Human Genome Research Institute (U54HG003067, R01HG005827)
- Topics
- Health Sciences › Medicine › Psychiatry and Mental health › Schizophrenia research and treatment
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- schizophrenia, polygenic burden, exome sequencing, activity-regulated cytoskeleton-associated protein, postsynaptic density, FMRP, glutamatergic synapses, autism spectrum disorder
- MeSH terms
- Disks Large Homolog 4 Protein, Autistic Disorder, Cytoskeletal Proteins, Female, Humans, Male, Membrane Proteins, Intellectual Disability, Mutation, Nerve Tissue Proteins, Schizophrenia, Calcium Channels, Receptors, N-Methyl-D-Aspartate, Multifactorial Inheritance, Intracellular Signaling Peptides and Proteins, Fragile X Messenger Ribonucleoprotein 1, Genome-Wide Association Study, DNA Copy Number Variations
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