Molecular pathways involved in neuronal cell adhesion and membrane scaffolding contribute to schizophrenia and bipolar disorder susceptibility
Open accessAbstract
Susceptibility to schizophrenia and bipolar disorder may involve a substantial, shared contribution from thousands of common genetic variants, each of small effect. Identifying whether risk variants map to specific molecular pathways is potentially biologically informative. We report a molecular pathway analysis using the single-nucleotide polymorphism (SNP) ratio test, which compares the ratio of nominally significant (P<0.05) to nonsignificant SNPs in a given pathway to identify the 'enrichment' for association signals. We applied this approach to the discovery (the International Schizophrenia Consortium (n=6909)) and validation (Genetic Association Information Network (n=2729)) of schizophrenia genome-wide association study (GWAS) data sets. We investigated each of the 212 experimentally validated pathways described in the Kyoto Encyclopaedia of Genes and Genomes in the discovery sample. Nominally significant pathways were tested in the validation sample, and five pathways were found to be significant (P=0.03-0.001); only the cell adhesion molecule (CAM) pathway withstood conservative correction for multiple testing. Interestingly, this pathway was also significantly associated with bipolar disorder (Wellcome Trust Case Control Consortium (n=4847)) (P=0.01). At a gene level, CAM genes associated in all three samples (NRXN1 and CNTNAP2), which were previously implicated in specific language disorder, autism and schizophrenia. The CAM pathway functions in neuronal cell adhesion, which is critical for synaptic formation and normal cell signaling. Similar pathways have also emerged from a pathway analysis of autism, suggesting that mechanisms involved in neuronal cell adhesion may contribute broadly to neurodevelopmental psychiatric phenotypes.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
GO analysis highlighted multiple pathways previously implicated in schizophrenia, including extracellular matrix and cell-cell adhesion.
“GO analysis highlighted multiple pathways previously implicated in schizophrenia, including several related to the extracellular matrix (Berretta, 2012) and cell-cell adhesion (O'Dushlaine et al., 2011).”
From DNA methylation meta-analysis reveals cellular alterations in psychosis and markers of treatment-resistant schizophrenia (2021) · cites this paper as O'Dushlaine et al., 2011
Analyses of bipolar disorder provided evidence of association with hormone action and adherens junctions.
“Analyses of bipolar disorder provided evidence of association with hormone action and adherens junctions7,9,10”
From Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways (2015) · cites this paper as [10]
Cites
Subramanian, A., Tamayo, P., Mootha, V. K., Mukherjee, S., Ebert, B. L., Gillette, M. A., Paulovich, A., Pomeroy, S. L., Golub, T. R., Lander, E. S., et al. (2005) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0506580102 · Cited by 53,625 · see citing works
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls
The Wellcome Trust Case Control Consortium, Management Committee, Burton, P. R., Clayton, D. G., Cardon, L. R., Craddock, N., Deloukas, P., Duncanson, A., Kwiatkowski, D. P., McCarthy, M. I., et al. (2007) · Nature · doi:10.1038/nature05911 · Cited by 9,442 · see citing works
Common polygenic variation contributes to risk of schizophrenia and bipolar disorder
The International Schizophrenia Consortium (2009) · Nature · doi:10.1038/nature08185 · Cited by 4,821 · see citing works
Glycosylation in Cellular Mechanisms of Health and Disease
Ohtsubo, K., & Marth, J. D. (2006) · Cell · doi:10.1016/j.cell.2006.08.019 · Cited by 2,765 · see citing works
The Wellcome Trust Case Control Consortium, U.K.
Mossman, K. (2008) · Scientific American · doi:10.1038/scientificamerican0108-42a · Cited by 2,714 · see citing works
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 · see citing works
Structural Variation of Chromosomes in Autism Spectrum Disorder
Marshall, C. R., Noor, A., Vincent, J. B., Lionel, A. C., Feuk, L., Skaug, J., Shago, M., Moessner, R., Pinto, D., Ren, Y., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2007.12.009 · Cited by 1,815 · see citing works
Rare Structural Variants Disrupt Multiple Genes in Neurodevelopmental Pathways in Schizophrenia
Walsh, T., McClellan, J. M., McCarthy, S. E., Addington, A. M., Pierce, S. B., Cooper, G. M., Nord, A. S., Kusenda, M., Malhotra, D., Bhandari, A., et al. (2008) · Science · doi:10.1126/science.1155174 · Cited by 1,800 · see citing works
Large recurrent microdeletions associated with schizophrenia.
GROUP, Stefansson, H., Rujescu, D., Cichon, S., Pietiläinen, O. P. H., Ingason, A., Steinberg, S., Fossdal, R., Sigurdsson, E., Sigmundsson, T., et al. (2008) · Nature · doi:10.1038/nature07229 · Cited by 1,745 · see citing works
Newly identified loci that influence lipid concentrations and risk of coronary artery disease
Willer, C. J., Sanna, S., Jackson, A. U., Scuteri, A., Bonnycastle, L. L., Clarke, R., Heath, S. C., Timpson, N. J., Najjar, S. S., Stringham, H. M., et al. (2008) · Nature Genetics · doi:10.1038/ng.76 · Cited by 1,585 · see citing works
Rare chromosomal deletions and duplications increase risk of schizophrenia
The International Schizophrenia Consortium (2008) · Nature · doi:10.1038/nature07239 · Cited by 1,475 · see citing works
Self-citationMapping autism risk loci using genetic linkage and chromosomal rearrangements
The Autism Genome Project Consortium (2007) · Nature Genetics · doi:10.1038/ng1985 · Cited by 1,402 · see citing works
Identification of loci associated with schizophrenia by genome-wide association and follow-up
Molecular Genetics of Schizophrenia Collaboration, O'Donovan, M. C., Craddock, N., Norton, N., Williams, H., Peirce, T., Moskvina, V., Nikolov, I., Hamshere, M., Carroll, L., et al. (2008) · Nature Genetics · doi:10.1038/ng.201 · Cited by 1,070 · see citing works
Self-citationCommon genetic variants on 5p14.1 associate with autism spectrum disorders
Wang, K., Zhang, H., Ma, D., Bucan, M., Glessner, J. T., Abrahams, B. S., Salyakina, D., Imielinski, M., Bradfield, J. P., Sleiman, P. M. A., et al. (2009) · Nature · doi:10.1038/nature07999 · Cited by 989 · see citing works
Pathway-Based Approaches for Analysis of Genomewide Association Studies
Wang, K., Li, M., & Bućan, M. (2007) · The American Journal of Human Genetics · doi:10.1086/522374 · Cited by 858 · see citing works
Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene
Alarcón, M., Abrahams, B. S., Stone, J. L., Duvall, J. A., Perederiy, J. V., Bomar, J. M., Sebat, J., Wigler, M., Martin, C. L., Ledbetter, D. H., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2007.09.005 · Cited by 818 · see citing works
Mao, Y., Ge, X., Frank, C. L., Madison, J. M., Koehler, A. N., Doud, M. K., Tassa, C., Berry-Scott, E., Soda, T., Singh, K. K., et al. (2009) · Cell · doi:10.1016/j.cell.2008.12.044 · Cited by 768 · see citing works
Kinesin superfamily motor protein KIF17 and mLin-10 in NMDA receptor-containing vesicle transport.
Setou, M., Nakagawa, T., Seog, D., & Hirokawa, N. (2000) · Science · doi:10.1126/science.288.5472.1796 · Cited by 744 · see citing works
A functional genetic link between distinct developmental language disorders
Vernes, S. C., Newbury, D. F., Abrahams, B. S., Winchester, L., Nicod, J., Groszer, M., Alarcón, M., Oliver, P. L., Davies, K. E., Geschwind, D. H., et al. (2008) · New England Journal of Medicine · doi:10.1056/nejmoa0802828 · Cited by 676 · see citing works
Arking, D. E., Cutler, D. J., Brune, C. W., Teslovich, T. M., West, K., Ikeda, M., Rea, A., Guy, M., Lin, S., Cook, E. H., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2007.09.015 · Cited by 590 · see citing works
Bakkaloglu, B., O'Roak, B. J., Louvi, A., Gupta, A. R., Abelson, J. F., Morgan, T. M., Chawarska, K., Klin, A., Ercan-Sencicek, A. G., Stillman, A. A., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2007.09.017 · Cited by 537 · see citing works
Disruption of the neurexin 1 gene is associated with schizophrenia
Rujescu, D., Ingason, A., Cichon, S., Pietiläinen, O. P. H., Barnes, M. R., Toulopoulou, T., Picchioni, M., Vassos, E., Ettinger, U., Bramon, E., et al. (2009) · Human Molecular Genetics · doi:10.1093/hmg/ddn351 · Cited by 471 · see citing works
Genomewide Association Studies: History, Rationale, and Prospects for Psychiatric Disorders
Psychiatric GWAS Consortium Coordinating Committee (2009) · American Journal of Psychiatry · doi:10.1176/appi.ajp.2008.08091354 · Cited by 450 · see citing works
A Genomic Pathway Approach to a Complex Disease: Axon Guidance and Parkinson Disease
Lesnick, T. G., Papapetropoulos, S., Mash, D. C., ffrench‐Mullen, J. M. H., Shehadeh, L. A., de Andrade, M., Henley, J. R., Rocca, W. A., Ahlskog, J. E., & Maraganore, D. M. (2007) · PLoS Genetics · doi:10.1371/journal.pgen.0030098 · Cited by 414 · see citing works
Gene Ontology Analysis of GWA Study Data Sets Provides Insights into the Biology of Bipolar Disorder
Holmans, P., Green, E. K., Pahwa, J. S., Ferreira, M. A. R., Purcell, S. M., Sklar, P., Owen, M. J., O'Donovan, M. C., & Craddock, N. (2009) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2009.05.011 · Cited by 378 · see citing works
Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia
Kirov, G., Gumus, D., Chen, W., Norton, N., Georgieva, L., Sari, M., O'Donovan, M. C., Erdogan, F., Owen, M. J., Ropers, H.-H., et al. (2007) · Human Molecular Genetics · doi:10.1093/hmg/ddm323 · Cited by 377 · see citing works
Cohen, A. R., Wood, D. F., Marfatia, S. M., Walther, Z., Chishti, A. H., & Anderson, J. M. (1998) · The Journal of Cell Biology · doi:10.1083/jcb.142.1.129 · Cited by 373 · see citing works
Weinhold, B., Seidenfaden, R., Röckle, I., Mühlenhoff, M., Schertzinger, F., Conzelmann, S., Marth, J. D., Gerardy-Schahn, R., & Hildebrandt, H. (2005) · Journal of Biological Chemistry · doi:10.1074/jbc.m511097200 · Cited by 298 · see citing works
CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy
Friedman, J. I., Vrijenhoek, T., Markx, S., Janssen, I. M., van der Vliet, W. A., Faas, B. H. W., Knoers, N. V. A. M., Cahn, W., Kahn, R. S., Edelmann, L. J., et al. (2007) · Molecular Psychiatry · doi:10.1038/sj.mp.4002049 · Cited by 297 · see citing works
Hill, J. J., Hashimoto, T., & Lewis, D. A. (2006) · Molecular Psychiatry · doi:10.1038/sj.mp.4001792 · Cited by 228 · see citing works
The polarity protein PAR-3 and TIAM1 cooperate in dendritic spine morphogenesis
Zhang, H., & Macara, I. G. (2006) · Nature Cell Biology · doi:10.1038/ncb1368 · Cited by 213 · see citing works
Using genome‐wide pathway analysis to unravel the etiology of complex diseases
Elbers, C. C., van Eijk, K. R., Franke, L., Mulder, F., van der Schouw, Y. T., Wijmenga, C., & Onland‐Moret, N. C. (2009) · Genetic Epidemiology · doi:10.1002/gepi.20395 · Cited by 190 · see citing works
The Polarity Protein Par-3 Directly Interacts with p75 NTR to Regulate Myelination
Chan, J. R., Jolicoeur, C., Yamauchi, J., Elliott, J., Fawcett, J. P., Ng, B. K., & Cayouette, M. (2006) · Science · doi:10.1126/science.1134069 · Cited by 153 · see citing works
Askland, K. D., Read, C., & Moore, J. H. (2008) · Human Genetics · doi:10.1007/s00439-008-0600-y · Cited by 144 · see citing works
Suarez, B. K., Duan, J., Sanders, A. R., Hinrichs, A. L., Jin, C. H., Hou, C., Buccola, N. G., Hale, N., Weilbaecher, A., Nertney, D. A., et al. (2006) · The American Journal of Human Genetics · doi:10.1086/500272 · Cited by 139 · see citing works
The SNP ratio test: pathway analysis of genome-wide association datasets
O'Dushlaine, C. T., Kenny, E. M., Heron, E. A., Segurado, R., Gill, M., Morris, D. W., & Corvin, A. P. (2009) · Bioinformatics · doi:10.1093/bioinformatics/btp448 · Cited by 138 · see citing works
Self-citationInduction of GABAergic Postsynaptic Differentiation by α-Neurexins
Kang, Y., Zhang, X., Dobie, F. A., Wu, H., & Craig, A. M. (2007) · Journal of Biological Chemistry · doi:10.1074/jbc.m703957200 · Cited by 132 · see citing works
Strategies and issues in the detection of pathway enrichment in genome-wide association studies
Hong, M., Yudi Pawitan, Y., Magnusson, P. K. E., & Prince, J. A. (2009) · Human Genetics · doi:10.1007/s00439-009-0676-z · Cited by 118 · see citing works
G2Cdb: the Genes to Cognition database
Croning, M. D. R., Marshall, M. C., McLaren, P., Armstrong, J. D., & Grant, S. G. N. (2008) · Nucleic Acids Research · doi:10.1093/nar/gkn700 · Cited by 75 · see citing works
Nudel Binds Cdc42GAP to Modulate Cdc42 Activity at the Leading Edge of Migrating Cells
Shen, Y., Li, N., Wu, S., Zhou, Y., Shan, Y., Zhang, Q., Ding, C., Yuan, Q., Zhao, F., Zeng, R., et al. (2008) · Developmental Cell · doi:10.1016/j.devcel.2008.01.001 · Cited by 74 · see citing works
Molecular Dissection of the ST8Sia IV Polysialyltransferase
Angata, K., Chan, D., Thibault, J., & Fukuda, M. (2004) · Journal of Biological Chemistry · doi:10.1074/jbc.m401562200 · Cited by 31 · see citing works
Flagged first, then by citations
Cited by
Sorted by citations
Functional impact of global rare copy number variation in autism spectrum disorders
Pinto, D., Pagnamenta, A. T., Klei, L., Anney, R., Merico, D., Regan, R., Conroy, J., Magalhaes, T. R., Correia, C., Abrahams, B. S., et al. (2010) · Nature · doi:10.1038/nature09146 · Cited by 2,013 · see citing works
Self-citationDe novo mutations in human genetic disease
Veltman, J. A., & Brunner, H. G. (2012) · Nature Reviews Genetics · doi:10.1038/nrg3241 · Cited by 845 · see citing works
Analysing biological pathways in genome-wide association studies
Wang, K., Li, M., & Hakonarson, H. H. (2010) · Nature Reviews Genetics · doi:10.1038/nrg2884 · Cited by 757 · see citing works
Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways
The Network and Pathway Analysis Subgroup of the Psychiatric Genomics Consortium (2015) · Nature Neuroscience · doi:10.1038/nn.3922 · Cited by 755 · see citing works
Self-citationHoward, D. M., Adams, M. J., Shirali, M., Clarke, T.-K., Marioni, R. E., Davies, G., Coleman, J. R. I., Alloza, C., Shen, X., Barbu, M. C., et al. (2018) · Nature Communications · doi:10.1038/s41467-018-03819-3 · Cited by 612 · see citing works
Psychopathology and the Human Connectome: Toward a Transdiagnostic Model of Risk For Mental Illness
Buckholtz, J. W., & Meyer‐Lindenberg, A. (2012) · Neuron · doi:10.1016/j.neuron.2012.06.002 · Cited by 433 · see citing works
Wang, P., Mokhtari, R., Pedrosa, E., Kirschenbaum, M. A., Bayrak, C., Zheng, D., & Lachman, H. M. (2017) · Molecular Autism · doi:10.1186/s13229-017-0124-1 · Cited by 255 · see citing works
Bergen, S. E., O'Dushlaine, C. T., Ripke, S., Lee, P. H., Ruderfer, D. M., Akterin, S., Moran, J. L., Chambert, K. D., Handsaker, R. E., Backlund, L., et al. (2012) · Molecular Psychiatry · doi:10.1038/mp.2012.73 · Cited by 239 · see citing works
Self-citationMeda, S. A., Ruaño, G., Windemuth, A., O’Neil, K., Berwise, C., Dunn, S. M., Boccaccio, L. E., Narayanan, B., Kocherla, M., Sprooten, E., et al. (2014) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1313093111 · Cited by 242 · see citing works
Lin, M., Pedrosa, E., Shah, A., Hrabovsky, A., Maqbool, S. B., Zheng, D., & Lachman, H. M. (2011) · PLoS ONE · doi:10.1371/journal.pone.0023356 · Cited by 239 · see citing works
Genetic disruption of voltage-gated calcium channels in psychiatric and neurological disorders
Heyes, S., Pratt, W. S., Rees, E., Dahimène, S., Ferron, L., Owen, M. J., & DOLPHIN, A. C. (2015) · Progress in Neurobiology · doi:10.1016/j.pneurobio.2015.09.002 · Cited by 234 · see citing works
Identification of Pathways for Bipolar Disorder: A Meta-analysis
Nurnberger, J. I., Koller, D. L., Jung, J., Edenberg, H. J., Foroud, T., Guella, I., Vawter, M. P., & Kelsoe, J. R. (2014) · JAMA Psychiatry · doi:10.1001/jamapsychiatry.2014.176 · Cited by 234 · see citing works
Anderson, G. R., Galfin, T., Xu, W., Aoto, J. N., Malenka, R. C., & Südhof, T. C. (2012) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1216398109 · Cited by 225 · see citing works
Genetic Advances in the Study of Speech and Language Disorders
Newbury, D. F., & Monaco, A. P. (2010) · Neuron · doi:10.1016/j.neuron.2010.10.001 · Cited by 218 · see citing works
The molecular genetic architecture of attention deficit hyperactivity disorder
Hawi, Z., Cummins, T. D. R., Tong, J., Johnson, B., Lau, R., Samarrai, W., & Bellgrove, M. (2015) · Molecular Psychiatry · doi:10.1038/mp.2014.183 · Cited by 216 · see citing works
A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder
Wang, K.-S., Liu, X.-F., & Aragam, N. (2010) · Schizophrenia Research · doi:10.1016/j.schres.2010.09.002 · Cited by 204 · see citing works
Gene set analysis of genome-wide association studies: Methodological issues and perspectives
Wang, L., Jia, P., Wolfinger, R. D., Chen, X., & Zhao, Z. (2011) · Genomics · doi:10.1016/j.ygeno.2011.04.006 · Cited by 207 · see citing works
Common variants conferring risk of schizophrenia: A pathway analysis of GWAS data
Jia, P., Wang, L., Meltzer, H. Y., & Zhao, Z. (2010) · Schizophrenia Research · doi:10.1016/j.schres.2010.07.001 · Cited by 199 · see citing works
Evidence for genetic heterogeneity between clinical subtypes of bipolar disorder
Charney, A. W., Ruderfer, D. M., Stahl, E. A., Moran, J. L., Chambert, K., Belliveau, R., Forty, L., Gordon‐Smith, K., Florio, A. D., Lee, P. H., et al. (2017) · Translational Psychiatry · doi:10.1038/tp.2016.242 · Cited by 188 · see citing works
Kenny, E. M., Cormican, P., Furlong, S., Heron, E. A., Kenny, G., Fahey, C., Kelleher, E., Ennis, S., Tropea, D., Anney, R., et al. (2013) · Molecular Psychiatry · doi:10.1038/mp.2013.127 · Cited by 190 · see citing works
Self-citationChen, S.-J., Chao, Y.-L., Chen, C., Chang, C., Wu, E. C., Wu, C., Yeh, H.-H. H., Chen, C., & Tsai, H. (2012) · The British Journal of Psychiatry · doi:10.1192/bjp.bp.111.092098 · Cited by 182 · see citing works
The node of Ranvier in CNS pathology
Arancibia-Carcamo, I. L., & Attwell, D. (2014) · Acta Neuropathologica · doi:10.1007/s00401-014-1305-z · Cited by 177 · see citing works
Pearce, B. D., Kruszon‐Moran, D., & Jones, J. L. (2012) · Biological Psychiatry · doi:10.1016/j.biopsych.2012.01.003 · Cited by 169 · see citing works
Functional gene group analysis identifies synaptic gene groups as risk factor for schizophrenia
the International Schizophrenia Consortium, Lips, E. S., Cornelisse, L. N., Toonen, R. F., Min, J. L., Hultman, C. M., Holmans, P. A., O'Donovan, M. C., Purcell, S. M., Smit, A. B., et al. (2012) · Molecular Psychiatry · doi:10.1038/mp.2011.117 · Cited by 167 · see citing works
A Comprehensive Family-Based Replication Study of Schizophrenia Genes
Åberg, K. A., Liu, Y., Bukszár, J., McClay, J. L., Khachane, A. N., Andreassen, O. A., Blackwood, D., Corvin, A. P., Djurovic, S., Gurling, H., et al. (2013) · JAMA Psychiatry · doi:10.1001/jamapsychiatry.2013.288 · Cited by 150 · see citing works
Self-citationHannon, E., Dempster, E. L., Mansell, G., Burrage, J., Bass, N., Bohlken, M. M., Corvin, A., Curtis, C. J., Dempster, D., Di Forti, M., et al. (2021) · eLife · doi:10.7554/elife.58430 · Cited by 132 · see citing works
“…direct relevance to the etiology of schizophrenia and gene ontology (GO) analysis highlighted multiple pathways previously implicated in schizophrenia including several related to the extracellular matrix ( Berretta, 2012 ) and cell-cell adhesion ( O’Dushlaine et al., 2011 ; Supplementary file 1 ).”
Self-citationVarea, O., Martin‐de‐Saavedra, M. D., Kopeikina, K. J., Schürmann, B., Fleming, H. J., Fawcett‐Patel, J. M., Bach, A. P., Jang, S., Peles, E., Kim, E., et al. (2015) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1423205112 · Cited by 139 · see citing works
Xu, K., Schadt, E. E., Pollard, K. S., Roussos, P., & Dudley, J. T. (2015) · Molecular Biology and Evolution · doi:10.1093/molbev/msv031 · Cited by 133 · see citing works
Development of Patient-Specific Neurons in Schizophrenia Using Induced Pluripotent Stem Cells
Pedrosa, E., Sandler, V. M., Shah, A., Carroll, R. C., Chang, C.-J., Rockowitz, S., Guo, X., Zheng, D., & Lachman, H. M. (2011) · Journal of Neurogenetics · doi:10.3109/01677063.2011.597908 · Cited by 129 · see citing works
Kendler, K. S. (2013) · Molecular Psychiatry · doi:10.1038/mp.2013.50 · Cited by 178 · see citing works
Neurodevelopmental pathways in bipolar disorder
Kloiber, S., Rosenblat, J. D., Husain, M. I., Ortiz, A., Berk, M., Quevedo, J., Vieta, E., Maes, M., Birmaher, B., Soares, J. C., et al. (2020) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2020.02.005 · Cited by 122 · see citing works
Mutations ofANK3identified by exome sequencing are associated with autism susceptibility
Bi, C., Wu, J., Jiang, T., Liu, Q., Cai, W., Yu, P., Cai, T., Zhao, M., Jiang, Y., & Sun, Z. S. (2012) · Human Mutation · doi:10.1002/humu.22174 · Cited by 121 · see citing works
The genetic basis of Gilles de la Tourette Syndrome
Paschou, P. (2013) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2013.01.016 · Cited by 117 · see citing works
Lam, M., Hill, W. D., Trampush, J. W., Yu, J., Knowles, E., Davies, G., Stahl, E. A., Huckins, L. M., Liewald, D. C. M., Djurovic, S., et al. (2019) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2019.06.012 · Cited by 113 · see citing works
Self-citationSpecific Glial Functions Contribute to Schizophrenia Susceptibility
Goudriaan, A., de Leeuw, C., Ripke, S., Hultman, C. M., Sklar, P., Sullivan, P. F., Smit, A. B., Posthuma, D., & Verheijen, M. H. G. (2014) · Schizophrenia Bulletin · doi:10.1093/schbul/sbt109 · Cited by 114 · see citing works
Hochstenbach, R., Buizer‐Voskamp, J. E., Vorstman, J. A. S., & Ophoff, R. A. (2011) · Cytogenetic and Genome Research · doi:10.1159/000332928 · Cited by 110 · see citing works
Integrin activity in neuronal connectivity
Lilja, J., & Ivaska, J. (2018) · Journal of Cell Science · doi:10.1242/jcs.212803 · Cited by 103 · see citing works
Hill, M., Jeffries, A. R., Dobson, R., Price, J., & Bray, N. J. (2011) · Human Molecular Genetics · doi:10.1093/hmg/ddr532 · Cited by 105 · see citing works
Neurodevelopmental origins of bipolar disorder: iPSC models
O’Shea, K. S., & McInnis, M. G. (2015) · Molecular and Cellular Neuroscience · doi:10.1016/j.mcn.2015.11.006 · Cited by 107 · see citing works
Crabtree, G. W., & Gogos, J. A. (2014) · Frontiers in Synaptic Neuroscience · doi:10.3389/fnsyn.2014.00028 · Cited by 102 · see citing works
Holmans, P. (2010) · Advances in genetics · doi:10.1016/b978-0-12-380862-2.00007-2 · Cited by 99 · see citing works
Goriely, A., McGrath, J. J., Hultman, C. M., Wilkie, A. O. M., & Malaspina, D. (2013) · American Journal of Psychiatry · doi:10.1176/appi.ajp.2013.12101352 · Cited by 96 · see citing works
Clinical Implications of Gene Dosage and Gene Expression Patterns in Diploid Breast Carcinoma
Parris, T. Z., Danielsson, A., Nemes, S., Kovács, A., Delle, U., Fallenius, G., Möllerström, E., Karlsson, P., & Helou, K. (2010) · Clinical Cancer Research · doi:10.1158/1078-0432.ccr-10-0889 · Cited by 95 · see citing works
Sakurai, T., Gamo, N. J., Hikida, T., Kim, S.-H., Murai, T., Tomoda, T., & Sawa, A. (2015) · Progress in Neurobiology · doi:10.1016/j.pneurobio.2015.09.010 · Cited by 96 · see citing works
Heck, A., Fastenrath, M., Ackermann, S., Auschra, B., Bickel, H., Coynel, D., Gschwind, L., Jessen, F., Kaduszkiewicz, H., Maier, W., et al. (2014) · Neuron · doi:10.1016/j.neuron.2014.01.010 · Cited by 92 · see citing works
White matter neuron alterations in schizophrenia and related disorders
Connor, C., Crawford, B. C., & Akbarian, S. (2010) · International Journal of Developmental Neuroscience · doi:10.1016/j.ijdevneu.2010.07.236 · Cited by 92 · see citing works
Stein, M. B., Yang, B.-Z., Chavira, D. A., Hitchcock, C. A., Sung, S. C., Shipon-Blum, E., & Gelernter, J. (2011) · Biological Psychiatry · doi:10.1016/j.biopsych.2010.11.008 · Cited by 89 · see citing works
Lee, P. H., Perlis, R. H., Jung, J. Y., Byrne, E. M., Rueckert, E. H., Siburian, R., Haddad, S. A., Mayerfeld, C., Heath, A. C., Pergadia, M. L., et al. (2012) · Translational Psychiatry · doi:10.1038/tp.2012.95 · Cited by 86 · see citing works
Joint sparse canonical correlation analysis for detecting differential imaging genetics modules
Fang, J., Lin, D., Schulz, S. C., Xu, Z., Calhoun, V. D., & Wang, Y. (2016) · Bioinformatics · doi:10.1093/bioinformatics/btw485 · Cited by 88 · see citing works
Motahari, Z., Moody, S., Maynard, T., & LaMantia, A. (2019) · Journal of Neurodevelopmental Disorders · doi:10.1186/s11689-019-9267-z · Cited by 76 · see citing works
Circulating exosomal microRNAs in bipolar disorder
Ceylan, D., Tüfekçi, K. U., Keskinoğlu, P., Genç, Ş., & Özerdem, A. (2019) · Journal of Affective Disorders · doi:10.1016/j.jad.2019.10.038 · Cited by 81 · see citing works
Liu, G., Jiang, Y., Wang, P., Feng, R., Jiang, N., Chen, X., Song, H., & Chen, Z. (2011) · Journal of Neurochemistry · doi:10.1111/j.1471-4159.2011.07547.x · Cited by 83 · see citing works
Mowry, B. J., & Gratten, J. (2012) · Molecular Psychiatry · doi:10.1038/mp.2012.34 · Cited by 81 · see citing works
Focal Adhesion Dynamics Are Altered in Schizophrenia
Fan, Y., Abrahamsen, G., Mills, R. J., Calderón, C. C., Tee, J. Y., Leyton, L., Murrell, W. G., Cooper-White, J. J., McGrath, J. J., & Mackay‐Sim, A. (2013) · Biological Psychiatry · doi:10.1016/j.biopsych.2013.01.020 · Cited by 79 · see citing works
Roffman, J. L., Brohawn, D. G., Nitenson, A. Z., Macklin, E. A., Smoller, J. W., & GOFF, D. C. (2011) · Schizophrenia Bulletin · doi:10.1093/schbul/sbr150 · Cited by 79 · see citing works
RNA-Seq analysis implicates dysregulation of the immune system in schizophrenia
Xu, J., Sun, J., Chen, J., Wang, L. H.-C., Li, A., Helm, M., Dubovsky, S. L., Bacanu, S., Zhao, Z., & Chen, X. (2012) · BMC Genomics · doi:10.1186/1471-2164-13-s8-s2 · Cited by 77 · see citing works
The genomic psychiatry cohort: Partners in discovery
Pato, M. T., Sobell, J. L., Medeiros, H., Abbott, C., Sklar, B. M., Buckley, P. F., Bromet, E. J., Escamilla, M., Fanous, A. H., Lehrer, D. S., et al. (2013) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32160 · Cited by 76 · see citing works
Genomic View of Bipolar Disorder Revealed by Whole Genome Sequencing in a Genetic Isolate
Georgi, B., Craig, D. W., Kember, R. L., Liu, W., Lindquist, I. E., Nasser, S., Brown, C. D., Egeland, J. A., Paul, S. M., & Bućan, M. (2014) · PLoS Genetics · doi:10.1371/journal.pgen.1004229 · Cited by 74 · see citing works
Genome-Wide Association Study of the Child Behavior Checklist Dysregulation Profile
Mick, E., McGough, J., Loo, S., Doyle, A. E., Wozniak, J., Wilens, T. E., Smalley, S., McCracken, J., Biederman, J., & Faraone, S. V. (2011) · Journal of the American Academy of Child & Adolescent Psychiatry · doi:10.1016/j.jaac.2011.05.001 · Cited by 75 · see citing works
Huang, H., Jeon, T., Sedmak, G., Pletikos, M., Vasung, L., Xu, X., Yarowsky, P., Richards, L. J., Kostović, I., Šestan, N., et al. (2012) · Cerebral Cortex · doi:10.1093/cercor/bhs241 · Cited by 75 · see citing works
Pathway-based analysis of GWAS datasets: effective but caution required
Jia, P., Wang, L., Meltzer, H. Y., & Zhao, Z. (2011) · The International Journal of Neuropsychopharmacology · doi:10.1017/s1461145710001446 · Cited by 71 · see citing works
Jia, P., Wang, L., Fanous, A. H., Chen, X., Kendler, K. S., & Zhao, Z. (2011) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2011-100397 · Cited by 69 · see citing works
Genetic and cognitive windows into circuit mechanisms of psychiatric disease
Arguello, P. A., & Gogos, J. A. (2011) · Trends in Neurosciences · doi:10.1016/j.tins.2011.11.007 · Cited by 66 · see citing works
Carbonetto, P. S., & Stephens, M. (2013) · PLoS Genetics · doi:10.1371/journal.pgen.1003770 · Cited by 66 · see citing works
Synapse Assembly and Neurodevelopmental Disorders
Washbourne, P. (2014) · Neuropsychopharmacology · doi:10.1038/npp.2014.163 · Cited by 66 · see citing works
Ishii, T., Ishikawa, M., Fujimori, K., Maeda, T., Kushima, I., Arioka, Y., Mori, D., Nakatake, Y., Yamagata, B., Nio, S., et al. (2019) · eNeuro · doi:10.1523/eneuro.0403-18.2019 · Cited by 64 · see citing works
Hu, J. R., Xu, J., Pang, L., Zhao, H., Li, F., Deng, Y., Liu, L., Lan, Y., Zhang, X., Zhao, T., et al. (2016) · Oncotarget · doi:10.18632/oncotarget.12122 · Cited by 63 · see citing works
Ghani, M., Pinto, D., Lee, J. H., Grinberg, Y., Sato, C., Moreno, D., Scherer, S. W., Mayeux, R. P., George‐Hyslop, P. S., & Rogaeva, E. A. (2012) · G3 Genes Genomes Genetics · doi:10.1534/g3.111.000869 · Cited by 63 · see citing works
Kinoshita, M., Numata, S., Tajima, A., Yamamori, H., Yasuda, Y., Fujimoto, M., Watanabe, S., Umehara, H., Shimodera, S., Nakazawa, T., et al. (2017) · International Journal of Molecular Sciences · doi:10.3390/ijms18030632 · Cited by 63 · see citing works
Pedroso, I., Lourdusamy, A., Rietschel, M., Nöthen, M. M., Cichon, S., McGuffin, P., Al-Chalabi, A., Barnes, M. R., & Breen, G. (2012) · Biological Psychiatry · doi:10.1016/j.biopsych.2011.12.031 · Cited by 59 · see citing works
Implications of Genetic Findings for Understanding Schizophrenia
Owen, M. J. (2012) · Schizophrenia Bulletin · doi:10.1093/schbul/sbs103 · Cited by 58 · see citing works
Integrin adhesion in brain assembly: From molecular structure to neuropsychiatric disorders
Jaudon, F., Thalhammer, A., & Cingolani, L. A. (2020) · European Journal of Neuroscience · doi:10.1111/ejn.14859 · Cited by 57 · see citing works
Pers, T. H., Timshel, P. N., Ripke, S., Sullivan, P. F., O’Donovan, M. C., Franke, L., & Hirschhorn, J. N. (2016) · Human Molecular Genetics · doi:10.1093/hmg/ddw007 · Cited by 60 · see citing works
Failed drug discovery in psychiatry: time for human genome-guided solutions
Papassotiropoulos, A., & de Quervain, D. J. ‐. (2015) · Trends in Cognitive Sciences · doi:10.1016/j.tics.2015.02.002 · Cited by 57 · see citing works
Juraeva, D., Haenisch, B., Zapatka, M., Frank, J., GROUP Investigators, PSYCH-GEMS SCZ working group, Witt, S. H., Mühleisen, T. W., Treutlein, J., Strohmaier, J., et al. (2014) · PLoS Genetics · doi:10.1371/journal.pgen.1004345 · Cited by 57 · see citing works
Sprooten, E., Fleming, K., Thomson, P. A., Bastin, M. E., Whalley, H. C., Hall, J., Sussmann, J. E., McKirdy, J. W., Blackwood, D., Lawrie, S. M., et al. (2012) · Psychiatry Research · doi:10.1016/j.psychres.2012.11.002 · Cited by 56 · see citing works
Wouters, M. M., Lambrechts, D., Knapp, M., Cleynen, I., Whorwell, P. J., Agréus, L., Dlugosz, A., Schmidt, P. T., Halfvarson, J., Simrén, M., et al. (2013) · Gut · doi:10.1136/gutjnl-2013-304570 · Cited by 55 · see citing works
Disrupted AMPA Receptor Function upon Genetic- or Antibody-Mediated Loss of Autism-Associated CASPR2
Fernandes, D., Santos, S. D., Coutinho, E., Whitt, J. L., Beltrão, N., Rondão, T., Leite, M. I., Buckley, C. J., Lee, H., & Carvalho, A. L. (2019) · Cerebral Cortex · doi:10.1093/cercor/bhz032 · Cited by 55 · see citing works
Pathway Analyses Implicate Glial Cells in Schizophrenia
Duncan, L. E., Holmans, P., Lee, P. H., O'Dushlaine, C. T., Kirby, A. W., Smoller, J. W., Öngür, D., & Cohen, B. M. (2014) · PLoS ONE · doi:10.1371/journal.pone.0089441 · Cited by 54 · see citing works
Self-citationGenetics of Complex Traits in Psychiatry
Gelernter, J. E. (2014) · Biological Psychiatry · doi:10.1016/j.biopsych.2014.08.005 · Cited by 55 · see citing works
Nash, A., Aumann, T. D., Pigoni, M., Lichtenthaler, S. F., Takeshima, H., Munro, K. M., & Gunnersen, J. M. (2019) · Cerebral Cortex · doi:10.1093/cercor/bhz230 · Cited by 50 · see citing works
TCF4 (e2‐2; ITF2): A schizophrenia‐associated gene with pleiotropic effects on human disease
Navarrete, K., Pedroso, I., de Jong, S., Stefánsson, H., Steinberg, S., Stefánsson, K., Ophoff, R. A., Schalkwyk, L. C., & Collier, D. A. (2012) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32109 · Cited by 50 · see citing works
Genome‐wide association study of sleep duration in the F innish population
Ollila, H. M., Kettunen, J., Pietiläinen, O. P. H., Lammi, V., Silander, K., Kronholm, E., Perola, M., Lahti, J. M. T., Räikkönen, K., Widén, E., et al. (2014) · Journal of Sleep Research · doi:10.1111/jsr.12175 · Cited by 50 · see citing works
Chang, S., Gao, L., Zhao, L., Zhang, W., Du, Y., & Wang, J. (2013) · Biological Psychiatry · doi:10.1016/j.biopsych.2013.04.016 · Cited by 48 · see citing works
Le-Niculescu, H., Case, N. J., Hulvershorn, L. A., Patel, S. D., Bowker, D., Gupta, J., Bell, R. L., Edenberg, H. J., Tsuang, M. T., Kuczenski, R. T., et al. (2011) · Translational Psychiatry · doi:10.1038/tp.2011.1 · Cited by 48 · see citing works
Pathway analysis of genome‐wide association datasets of personality traits
Kim, H. ‐., Kim, B. ‐., Cho, J. K., Ryu, S., Shin, H. R., Sung, J., Shin, C., Cho, N. H., Sung, Y. A., Choi, B., et al. (2015) · Genes Brain & Behavior · doi:10.1111/gbb.12212 · Cited by 46 · see citing works
Genetics of long-term treatment outcome in bipolar disorder
Fabbri, C., & Serretti, A. (2015) · Progress in Neuro-Psychopharmacology and Biological Psychiatry · doi:10.1016/j.pnpbp.2015.08.008 · Cited by 44 · see citing works
dbPTB: a database for preterm birth
Uzun, A., Laliberte, A., Parker, J., Andrew, C., Winterrowd, E., Sharma, S., Istrail, S., & Padbury, J. F. (2012) · Database · doi:10.1093/database/bar069 · Cited by 44 · see citing works
Zhang, Z., Yu, H., Jiang, S., Liao, J., Lu, T., Wang, L., Zhang, D., & Yue, W. (2015) · PLoS ONE · doi:10.1371/journal.pone.0144719 · Cited by 44 · see citing works
From Rare Copy Number Variants to Biological Processes in ADHD
Harich, B., van der Voet, M., Klein, M., Čížek, P., Fencková, M., Schenck, A., & Franke, B. (2020) · American Journal of Psychiatry · doi:10.1176/appi.ajp.2020.19090923 · Cited by 42 · see citing works
Narayanan, B., Soh, P., Calhoun, V. D., Ruaño, G., Kocherla, M., Windemuth, A., Clementz, B. A., Tamminga, C. A., Sweeney, J. A., Keshavan, M. S., et al. (2015) · Translational Psychiatry · doi:10.1038/tp.2015.76 · Cited by 43 · see citing works
Genome-wide gene-set analysis for identification of pathways associated with alcohol dependence
Biernacka, J. M., Geske, J. R., Jenkins, G. D., Colby, C. L., Rider, D. N., Karpyak, V. M., Choi, D., & Fridley, B. L. (2012) · The International Journal of Neuropsychopharmacology · doi:10.1017/s1461145712000375 · Cited by 43 · see citing works
Cariaga-Martínez, A. E., Sáiz-Ruiz, J., & Alelú‐Paz, R. (2016) · Frontiers in Neuroscience · doi:10.3389/fnins.2016.00202 · Cited by 42 · see citing works
Chang, S., Fang, K., Zhang, K., & Wang, J. (2015) · PLoS ONE · doi:10.1371/journal.pone.0133404 · Cited by 41 · see citing works
Dynamics of Subcellular Proteomes During Brain Development
McClatchy, D. B., Liao, L., Lee, J. H., Park, S. K., & Yates, J. R. (2012) · Journal of Proteome Research · doi:10.1021/pr201176v · Cited by 40 · see citing works
Carter, C. J. (2011) · Journal of Pathogens · doi:10.4061/2011/128318 · Cited by 40 · see citing works
Voineskos, A. N. (2014) · Schizophrenia Research · doi:10.1016/j.schres.2014.03.034 · Cited by 39 · see citing works
CNTNAP2 polymorphisms and structural brain connectivity: A diffusion-tensor imaging study
von Hohenberg, C. C., Wigand, M. C. C., Kubicki, M. R., Leicht, G., Giegling, I., Karch, S., Hartmann, A. M., Konte, B., Friedl, M., Ballinger, T., et al. (2013) · Journal of Psychiatric Research · doi:10.1016/j.jpsychires.2013.07.002 · Cited by 39 · see citing works
RAPID detection of gene–gene interactions in genome-wide association studies
Brinza, D., Schultz, M., Tesler, G., & Bafna, V. (2010) · Bioinformatics · doi:10.1093/bioinformatics/btq529 · Cited by 39 · see citing works
Hertzberg, L., Katsel, P., Roussos, P., Haroutunian, V. H., & Domany, E. (2015) · Schizophrenia Research · doi:10.1016/j.schres.2015.02.001 · Cited by 39 · see citing works
- Authors
- O'Dushlaine, C., Kenny, E., Heron, E., Donohoe, G., Gill, M., Morris, D., The International Schizophrenia Consortium, & Corvin, A.
- Affiliations
- Trinity College Dublin (IE)
- Corresponding author
- Corvin, A
- Venue
- Molecular Psychiatry
- Published
- 2010-02-16
- Volume
- 16
- Issue
- 3
- Pages
- 286-292
- ISSN
- 1359-4184 (ISSN-L)
- 1476-5578
- OpenAlex
- W2037995604
- Cited by
- 228
- References
- 41
- Citations by year
- 2026: 2 · 2025: 7 · 2024: 6 · 2023: 3 · 2022: 4 · 2021: 6 · 2020: 12 · 2019: 13 · 2018: 6 · 2017: 10 · 2016: 13 · 2015: 25 · 2014: 23 · 2013: 30 · 2012: 29
- FWCI
- 21.39
- Type
- journal article
- Language
- en
- Open access
- green
- hdl.handle.net
- Licence
- Locations
- Molecular Psychiatry (publishedVersion)
- PubMed (publishedVersion)
- Arrow@dit (Dublin Institute of Technology) (submittedVersion, cc-by-nc-sa)
- HAL (submittedVersion, other-oa)
- UCL Discovery (University College London) (submittedVersion)
- ORCA Online Research @Cardiff (Cardiff University) (submittedVersion)
- Trinity's Access to Research Output (TARA) (Trinity College Dublin) (submittedVersion)
- Lenus, The Irish Health Repository (Dr Steevens Hospital Library) (submittedVersion)
- Topics
- Health Sciences › Medicine › Psychiatry and Mental health › Schizophrenia research and treatment
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Health Sciences › Medicine › Psychiatry and Mental health › Bipolar Disorder and Treatment
- Keywords
- schizophrenia, bipolar disorder, adhesion molecules, neuronal adhesion, pathway enrichment, NRXN1, CNTNAP2, synaptogenesis, genetic susceptibility
- MeSH terms
- Bipolar Disorder, Calcium-Binding Proteins, Female, Humans, Male, Membrane Proteins, Nerve Tissue Proteins, Schizophrenia, Signal Transduction, Cell Adhesion Molecules, Neuronal, Neural Cell Adhesion Molecules, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Genome-Wide Association Study
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review