A Role for Noncoding Variation in Schizophrenia
Open accessAbstract
A large portion of common variant loci associated with genetic risk for schizophrenia reside within noncoding sequence of unknown function. Here, we demonstrate promoter and enhancer enrichment in schizophrenia variants associated with expression quantitative trait loci (eQTL). The enrichment is greater when functional annotations derived from the human brain are used relative to peripheral tissues. Regulatory trait concordance analysis ranked genes within schizophrenia genome-wide significant loci for a potential functional role, based on colocalization of a risk SNP, eQTL, and regulatory element sequence. We identified potential physical interactions of noncontiguous proximal and distal regulatory elements. This was verified in prefrontal cortex and -induced pluripotent stem cell-derived neurons for the L-type calcium channel (CACNA1C) risk locus. Our findings point to a functional link between schizophrenia-associated noncoding SNPs and 3D genome architecture associated with chromosomal loopings and transcriptional regulation in the brain.
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Schizophrenia GWAS SNPs occur more often than chance in cis-regulatory functional genomic elements such as enhancers or eQTL SNPs.
“Indeed, GWAS SNPs associated with SCZ risk occur more often than expected by chance in cis-regulatory functional genomic elements, such as enhancers or eQTL SNPs3,21–24.”
From Gene expression elucidates functional impact of polygenic risk for schizophrenia (2016) · cites this paper as [21]
GWAS SNPs associated with schizophrenia risk occur more often than expected by chance in cis-regulatory functional genomic elements, such as enhancers or eQTL SNPs.
“Indeed, GWAS SNPs associated with SCZ risk occur more often than expected by chance in cis-regulatory functional genomic elements, such as enhancers or eQTL SNPs3,21–24.”
From Gene expression elucidates functional impact of polygenic risk for schizophrenia (2016) · cites this paper as [21]
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NIH Image to ImageJ: 25 years of image analysis
Schneider, C. A., Rasband, W. S., & Eliceiri, K. W. (2012) · Nature Methods · doi:10.1038/nmeth.2089 · Cited by 64,638 · see citing works
Biological insights from 108 schizophrenia-associated genetic loci
Schizophrenia Working Group of the Psychiatric Genomics Consortium (2014) · Nature · doi:10.1038/nature13595 · Cited by 7,577 · see citing works
Systematic Localization of Common Disease-Associated Variation in Regulatory DNA
Maurano, M. T., Humbert, R., Rynes, E., Thurman, R. E., Haugen, E., Wang, H., Reynolds, A. P., Sandstrom, R., Qu, H., Brody, J., et al. (2012) · Science · doi:10.1126/science.1222794 · Cited by 3,716 · see citing works
(2013) · The Lancet · doi:10.1016/s0140-6736(12)62129-1 · Cited by 3,010 · 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
An atlas of active enhancers across human cell types and tissues
The FANTOM Consortium, Andersson, R., Gebhard, C., Miguel-Escalada, I., Hoof, I., Bornholdt, J., Boyd, M., Chen, Y., Zhao, X., Schmidl, C., et al. (2014) · Nature · doi:10.1038/nature12787 · Cited by 2,550 · see citing works
Histone modifications at human enhancers reflect global cell-type-specific gene expression
Heintzman, N. D., Hon, G. C., Hawkins, R. D., Kheradpour, P., Stark, A., Harp, L. F., Ye, Z., Lee, L. K., Stuart, R. K., Ching, C. W., et al. (2009) · Nature · doi:10.1038/nature07829 · Cited by 2,533 · see citing works
Genetics of rheumatoid arthritis contributes to biology and drug discovery
the RACI consortium, Okada, Y., the GARNET consortium, Wu, D., Trynka, G., Raj, T., Terao, C., Ikari, K., Kochi, Y., Ohmura, K., et al. (2014) · Nature · doi:10.1038/nature12873 · Cited by 2,310 · see citing works
Self-citationMediator and cohesin connect gene expression and chromatin architecture
Kagey, M. H., Newman, J. J., Bilodeau, S., Zhan, Y., Orlando, D. A., van Berkum, N. L., Ebmeier, C. C., Goossens, J., Rahl, P. B., Levine, S. S., et al. (2010) · Nature · doi:10.1038/nature09380 · Cited by 1,939 · see citing works
Global epigenomic reconfiguration during mammalian brain development
Lister, R., Mukamel, E. A., Nery, J. R., Urich, M., Puddifoot, C. A., Johnson, N. D., Lucero, J., Huang, Y., Dwork, A. J., Schultz, M. D., et al. (2013) · Science · doi:10.1126/science.1237905 · Cited by 1,830 · see citing works
Systematic identification of trans eQTLs as putative drivers of known disease associations
Westra, H.-J., Peters, M. J., Esko, T., Yaghootkar, H., Schurmann, C., Kettunen, J., Christiansen, M. W., Fairfax, B. P., Schramm, K., Powell, J. E., et al. (2013) · Nature Genetics · doi:10.1038/ng.2756 · Cited by 1,658 · see citing works
Integrated Systems Approach Identifies Genetic Nodes and Networks in Late-Onset Alzheimer’s Disease
Zhang, B., Gaiteri, C., Bodea, L.-G., Wang, Z., McElwee, J., Podtelezhnikov, A. A., Zhang, C., Xie, T., Tran, L., Dobrin, R., et al. (2013) · Cell · doi:10.1016/j.cell.2013.03.030 · Cited by 1,657 · see citing works
Self-citationDe novo mutations in schizophrenia implicate synaptic networks
Fromer, M., Pocklington, A. J., Kavanagh, D. H., Williams, H. J., Dwyer, S., Gormley, P., Georgieva, L., Rees, E., Palta, P., Ruderfer, D. M., et al. (2014) · Nature · doi:10.1038/nature12929 · Cited by 1,617 · see citing works
Self-citationGenome-wide association analysis identifies 13 new risk loci for schizophrenia
Multicenter Genetic Studies of Schizophrenia Consortium, Ripke, S., Psychosis Endophenotypes International Consortium, Wellcome Trust Case Control Consortium 2, O'Dushlaine, C., Chambert, K., Moran, J. L., Kähler, A. K., Akterin, S., Bergen, S. E., et al. (2013) · Nature Genetics · doi:10.1038/ng.2742 · Cited by 1,496 · see citing works
Self-citationA polygenic burden of rare disruptive mutations in schizophrenia
Purcell, S. M., Moran, J. L., Fromer, M., Ruderfer, D., Solovieff, N., Roussos, P., O’Dushlaine, C., Chambert, K., Bergen, S. E., Kähler, A., et al. (2014) · Nature · doi:10.1038/nature12975 · Cited by 1,385 · see citing works
Self-citationModelling schizophrenia using human induced pluripotent stem cells
Brennand, K. J., Simone, A., Jou, J., Gelboin-Burkhart, C., Tran, N., Sangar, S., Li, Y., Mu, Y., Chen, G., Yu, D., et al. (2011) · Nature · doi:10.1038/nature09915 · Cited by 1,375 · see citing works
Self-citationPsychiatric GWAS Consortium Bipolar Disorder Working Group, Sklar, P., Ripke, S., Scott, L. J., Andreassen, O. A., Cichon, S., Craddock, N., Edenberg, H. J., Nurnberger, J. I., Rietschel, M., et al. (2011) · Nature Genetics · doi:10.1038/ng.943 · Cited by 1,344 · see citing works
Self-citationTrait-associated SNPs are more likely to be eQTLs: annotation to enhance discovery from GWAS
Nicolae, D. L., Gamazon, E., Zhang, W., Duan, S., Dolan, M. E., & Cox, N. J. (2010) · PLoS Genetics · doi:10.1371/journal.pgen.1000888 · Cited by 1,292 · see citing works
Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci
BIRAC Consortium, Stahl, E. A., YEAR Consortium, Raychaudhuri, S., Remmers, E. F., Xie, G., Eyre, S., Thomson, B. P., Li, Y., Kurreeman, F. A. S., et al. (2010) · Nature Genetics · doi:10.1038/ng.582 · Cited by 1,253 · see citing works
Self-citationWellcome Trust Case Control Consortium, Ferreira, M. A. R., O'Donovan, M. C., Meng, Y. A., Jones, I. R., Ruderfer, D. M., Jones, L., Fan, J., Kirov, G., Perlis, R. H., et al. (2008) · Nature Genetics · doi:10.1038/ng.209 · Cited by 1,237 · see citing works
Self-citationFrom noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus
Musunuru, K., Strong, A., Frank-Kamenetsky, M., Lee, N. E., Ahfeldt, T., Sachs, K. V., Li, X., Li, H., Kuperwasser, N., Ruda, V. M., et al. (2010) · Nature · doi:10.1038/nature09266 · Cited by 1,140 · see citing works
Self-citationAbundant quantitative trait loci exist for DNA methylation and gene expression in human brain
Gibbs, J. R., van der Brug, M. P., Hernandez, D. G., Traynor, B. J., Nalls, M. A., Lai, S.-L., Arepalli, S., Dillman, A., Rafferty, I. P., Troncoso, J., et al. (2010) · PLoS Genetics · doi:10.1371/journal.pgen.1000952 · Cited by 769 · see citing works
Common Regulatory Variation Impacts Gene Expression in a Cell Type–Dependent Manner
Dimas, A. S., Deutsch, S., Stranger, B. E., Montgomery, S. B., Borel, C., Attar, H., Ingle, C., Beazley, C., Arcelus, M. G., Sekowska, M., et al. (2009) · Science · doi:10.1126/science.1174148 · Cited by 746 · see citing works
Mapping cis- and trans-regulatory effects across multiple tissues in twins
The Multiple Tissue Human Expression Resource (MuTHER) Consortium, Grundberg, E., Small, K. S., Hedman, Å. K., Nica, A. C., Buil, A., Keildson, S., Bell, J. T., Yang, T.-P., Meduri, E., et al. (2012) · Nature Genetics · doi:10.1038/ng.2394 · Cited by 729 · see citing works
Self-citationWhole-genome association study of bipolar disorder
Sklar, P. B., Smoller, J. W., Fan, J., Ferreira, M. A. R., Perlis, R. H., Chambert, K., Nimgaonkar, V. L., McQueen, M. B., Faraone, S. V., Kirby, A. W., et al. (2008) · Molecular Psychiatry · doi:10.1038/sj.mp.4002151 · Cited by 691 · see citing works
Self-citationTemporal dynamics and genetic control of transcription in the human prefrontal cortex
Colantuoni, C., Lipska, B. K., Ye, T., Hyde, T. M., Tao, R., Leek, J. T., Colantuoni, E. A., Elkahloun, A. G., Herman, M. M., Weinberger, D. R., et al. (2011) · Nature · doi:10.1038/nature10524 · Cited by 685 · see citing works
DNase I sensitivity QTLs are a major determinant of human expression variation
Degner, J. F., Pai, A. A., Piqué-Regi, R., Veyrieras, J., Gaffney, D. J., Pickrell, J. K., Leon, S. D., Michelini, K., Lewellen, N., Crawford, G. E., et al. (2012) · Nature · doi:10.1038/nature10808 · Cited by 633 · see citing works
9p21 DNA variants associated with coronary artery disease impair interferon-γ signalling response
Harismendy, O., Notani, D., Song, X., Rahim, N. G., Tanasă, B., Heintzman, N. D., Ren, B., Fu, X., Topol, E. J., Rosenfeld, M. G., et al. (2011) · Nature · doi:10.1038/nature09753 · Cited by 605 · see citing works
Chromatin marks identify critical cell types for fine mapping complex trait variants
Trynka, G., Sandor, C., Han, B., Xu, H., Stranger, B. E., Liu, X. S., & Raychaudhuri, S. (2013) · Nature Genetics · doi:10.1038/ng.2504 · Cited by 580 · see citing works
Self-citationGenome-wide chromatin state transitions associated with developmental and environmental cues
Zhu, J., Adli, M., Zou, J., Verstappen, G., Coyne, M. J., Zhang, X.-L., Durham, T. J., Miri, M., Deshpande, V., Jager, P. D., et al. (2013) · Cell · doi:10.1016/j.cell.2012.12.033 · Cited by 553 · see citing works
Fairfax, B. P., Makino, S., Radhakrishnan, J., Plant, K., Leslie, S., Dilthey, A., Ellis, P., Langford, C., Vannberg, F. O., & Knight, J. C. (2012) · Nature Genetics · doi:10.1038/ng.2205 · Cited by 486 · see citing works
Nica, A. C., Montgomery, S. B., Dimas, A. S., Stranger, B. E., Beazley, C., Barroso, I., & Dermitzakis, E. T. (2010) · PLoS Genetics · doi:10.1371/journal.pgen.1000895 · Cited by 423 · see citing works
The Architecture of Gene Regulatory Variation across Multiple Human Tissues: The MuTHER Study
Nica, A. C., Parts, L., Glass, D., Nisbet, J. P., Barrett, A., Sekowska, M., Travers, M. E., Potter, S., Grundberg, E., Small, K. S., et al. (2011) · PLoS Genetics · doi:10.1371/journal.pgen.1002003 · Cited by 395 · see citing works
Bichet, D., Cornet, V., Geib, S., Carlier, E., Volsen, S. G., Hoshi, T., Mori, Y., & WAARD, M. M. D. (2000) · Neuron · doi:10.1016/s0896-6273(00)80881-8 · Cited by 377 · see citing works
Calcium Signaling in Neuronal Development
Rosenberg, S. S., & Spitzer, N. C. (2011) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a004259 · Cited by 322 · see citing works
Genetic Variation in CACNA1C Affects Brain Circuitries Related to Mental Illness
Bigos, K. L., Mattay, V. S., Callicott, J. H., Straub, R. E., Vakkalanka, R., Kolachana, B. S., Hyde, T. M., Lipska, B. K., Kleinman, J. E., & Weinberger, D. R. (2010) · Archives of General Psychiatry · doi:10.1001/archgenpsychiatry.2010.96 · Cited by 317 · see citing works
Schork, A. J., Thompson, W. K., Pham, P., Torkamani, A., Roddey, J. C., Sullivan, P. F., Kelsoe, J. R., O’Donovan, M. C., Furberg, H., Schork, N. J., et al. (2013) · PLoS Genetics · doi:10.1371/journal.pgen.1003449 · Cited by 275 · see citing works
A High-Resolution Enhancer Atlas of the Developing Telencephalon
Visel, A., Taher, L., Girgis, H., May, D., Golonzhka, O., Hoch, R. V., McKinsey, G. L., Pattabiraman, K., Silberberg, S. N., Blow, M. J., et al. (2013) · Cell · doi:10.1016/j.cell.2012.12.041 · Cited by 257 · see citing works
Cheung, I., Shulha, H. P., Jiang, Y., Matevossian, A., Wang, J., Weng, Z., & Akbarian, S. (2010) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1001702107 · Cited by 235 · see citing works
Self-citationChromosomal Contact Permits Transcription between Coregulated Genes
Fanucchi, S., Shibayama, Y., Burd, S. C., Weinberg, M. S., & Mhlanga, M. M. (2013) · Cell · doi:10.1016/j.cell.2013.09.051 · Cited by 207 · see citing works
Innocenti, F., Cooper, G. M., Stanaway, I. B., Gamazon, E. R., Smith, J. D., Mirkov, S., Ramı́rez, J., Liu, W., Lin, Y. S., Moloney, C., et al. (2011) · PLoS Genetics · doi:10.1371/journal.pgen.1002078 · Cited by 205 · see citing works
Epigenetic Signatures of Autism: Trimethylated H3K4 Landscapes in Prefrontal Neurons
Shulha, H. P. (2012) · Archives of General Psychiatry · doi:10.1001/archgenpsychiatry.2011.151 · Cited by 196 · see citing works
Brain Function in Carriers of a Genome-wide Supported Bipolar Disorder Variant
Erk, S., Meyer‐Lindenberg, A., Schnell, K., von Boberfeld, C. O., Esslinger, C., Kirsch, P., Grimm, O., Arnold, C., Haddad, L., Witt, S. H., et al. (2010) · Archives of General Psychiatry · doi:10.1001/archgenpsychiatry.2010.94 · Cited by 175 · see citing works
Liver and Adipose Expression Associated SNPs Are Enriched for Association to Type 2 Diabetes
Zhong, H., Beaulaurier, J., Lum, P. Y., Molony, C. M., Yang, X., MacNeil, D. J., Weingarth, D. T., Zhang, B., Greenawalt, D. M., Dobrin, R., et al. (2010) · PLoS Genetics · doi:10.1371/journal.pgen.1000932 · Cited by 164 · see citing works
Self-citationGenome-wide association study of bipolar I disorder in the Han Chinese population
Lee, M. T. M., Chen, C. H., Lee, C. S., Chen, C. C., Chong, M. Y., Ouyang, W. C., Chiu, N. Y., Chuo, L. J., Chen, C. Y., Tan, H. K. L., et al. (2011) · Molecular Psychiatry · doi:10.1038/mp.2010.43 · Cited by 157 · see citing works
CTCF: insights into insulator function during development
Herold, M. V. B., Bartkuhn, M., & Renkawitz, R. (2012) · Development · doi:10.1242/dev.065268 · Cited by 150 · see citing works
Obermair, G. J., Szabó, Z. M., Bourinet, E., & Flucher, B. E. (2004) · European Journal of Neuroscience · doi:10.1111/j.0953-816x.2004.03272.x · Cited by 149 · see citing works
seeQTL: a searchable database for human eQTLs
Xia, K., Shabalin, A. A., Huang, S., Madar, V., Zhou, Y., Wang, W., Zou, F., Sun, W., Sullivan, P. F., & Wright, F. A. (2011) · Bioinformatics · doi:10.1093/bioinformatics/btr678 · Cited by 130 · see citing works
Gershon, E. S., Grennan, K. S., Busnello, J. V., Badner, J. A., Ovsiew, F., Memon, S., Alliey‐Rodriguez, N., Cooper, J. J., Romanos, B., & Liu, C. (2013) · Molecular Psychiatry · doi:10.1038/mp.2013.107 · Cited by 125 · see citing works
Richards, A. L., Jones, L., Moskvina, V, Kirov, G., Gejman, P. V., Levinson, D. F., Sanders, A. R., Molecular Genetics of Schizophrenia Collaboration (MGS), International Schizophrenia Consortium (ISC), Purcell, S., et al. (2012) · Molecular Psychiatry · doi:10.1038/mp.2011.11 · Cited by 123 · see citing works
Self-citationRoussos, P., Giakoumaki, S. G., Georgakopoulos, A., Robakis, N. K. R. K., & Bitsios, P. (2011) · Bipolar Disorders · doi:10.1111/j.1399-5618.2011.00924.x · Cited by 100 · see citing works
Self-citationCACNA1C Risk Variant and Amygdala Activity in Bipolar Disorder, Schizophrenia and Healthy Controls
Tesli, M., Skåtun, K. C., Ousdal, O. T., Brown, A. A., Thoresen, C., Agartz, I., Melle, I. S., Djurovic, S., Jensen, J., & Andreassen, O. A. (2013) · PLoS ONE · doi:10.1371/journal.pone.0056970 · Cited by 89 · see citing works
Paulus, F. M., Bedenbender, J., Krach, S., Pyka, M., Krug, A., Sommer, J. B., Mette, M., Nöthen, M. M., Witt, S. H., Rietschel, M., et al. (2013) · Human Brain Mapping · doi:10.1002/hbm.22244 · Cited by 81 · see citing works
Shulha, H. P., Cheung, I. K., Guo, Y., Akbarian, S., & Weng, Z. (2013) · PLoS Genetics · doi:10.1371/journal.pgen.1003433 · Cited by 72 · see citing works
Self-citationRaduà, J., Surguladze, S. A., Marshall, N., Walshe, M., Bramon, E., Collier, D. A., Prata, D. P., Murray, R. M., & McDonald, C. (2012) · Molecular Psychiatry · doi:10.1038/mp.2012.61 · Cited by 60 · see citing works
The Genome in Three Dimensions: A New Frontier in Human Brain Research
Mitchell, A., Bharadwaj, R. A., Whittle, C., Krueger, W. H., Mirnics, K., Hurd, Y. L., Rasmussen, T. P., & Akbarian, S. (2013) · Biological Psychiatry · doi:10.1016/j.biopsych.2013.07.015 · Cited by 57 · see citing works
Self-citationHori, H., Yamamoto, N., Fujii, T., Teraishi, T., Sasayama, D., Matsuo, J., Kawamoto, Y., Kinoshita, Y., Ota, M., Hattori, K., et al. (2012) · Scientific Reports · doi:10.1038/srep00634 · Cited by 47 · see citing works
CACNA1C as a risk factor for schizotypal personality disorder and schizotypy in healthy individuals
Roussos, P., Bitsios, P., Giakoumaki, S. G., McClure, M. M., Hazlett, E. A., New, A. S., & Siever, L. J. (2012) · Psychiatry Research · doi:10.1016/j.psychres.2012.08.039 · Cited by 41 · see citing works
Self-citationWenger, A. M., Clarke, S. L., Notwell, J. H., Chung, T. R., Tuteja, G., Guturu, H., Schaar, B. T., & Bejerano, G. (2013) · PLoS Genetics · doi:10.1371/journal.pgen.1003728 · Cited by 35 · see citing works
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- Sklar P Ripke S Scott LJ Andreassen OA Cichon S Craddock N Edenberg HJ Nurnberger JI Jr Rietschel M Blackwood D Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4 Nat Genet 2011 43 977 983 21926972 PMC3637176
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Visscher, P. M., Wray, N. R., Zhang, Q., Sklar, P., McCarthy, M. I., Brown, M. A., & Yang, J. (2017) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2017.06.005 · Cited by 3,719 · see citing works
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Fromer, M., Roussos, P., Sieberts, S. K., Johnson, J. S., Kavanagh, D. H., Perumal, T. M., Ruderfer, D. M., Oh, E. C., Topol, A., Shah, H. R., et al. (2016) · Nature Neuroscience · doi:10.1038/nn.4399 · Cited by 1,091 · see citing works
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Won, H., de la Torre-Ubieta, L., Stein, J. L., Parikshak, N. N., Huang, J., Opland, C. K., Gandal, M. J., Sutton, G. J., Hormozdiari, F., Lu, D., et al. (2016) · Nature · doi:10.1038/nature19847 · Cited by 584 · see citing works
Qi, T., Wu, Y., Zeng, J., Zhang, F., Xue, A., Jiang, L., Zhu, Z., Kemper, K., Yengo, L., Zheng, Z., et al. (2018) · Nature Communications · doi:10.1038/s41467-018-04558-1 · Cited by 427 · see citing works
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Klengel, T., & Binder, E. B. (2015) · Neuron · doi:10.1016/j.neuron.2015.05.036 · Cited by 353 · see citing works
The road to precision psychiatry: translating genetics into disease mechanisms
Gandal, M. J., Leppa, V., Won, H., Parikshak, N. N., & Geschwind, D. H. (2016) · Nature Neuroscience · doi:10.1038/nn.4409 · Cited by 223 · see citing works
Watson, C. T., Roussos, P., Garg, P., Ho, D. J., Azam, N., Katsel, P. L., Haroutunian, V., & Sharp, A. J. (2016) · Genome Medicine · doi:10.1186/s13073-015-0258-8 · Cited by 201 · see citing works
Self-citationEvaluation of chromatin accessibility in prefrontal cortex of individuals with schizophrenia
Bryois, J., Garrett, M. E., Song, L., Safi, A., Giusti-Rodriguez, P., Johnson, G. D., Shieh, A. W., Buil, A., Fullard, J. F., Roussos, P., et al. (2018) · Nature Communications · doi:10.1038/s41467-018-05379-y · Cited by 167 · see citing works
Self-citationArloth, J., Bogdan, R., Weber, P., Frishman, G., Menke, A., Wagner, K. V., Balsevich, G., Schmidt, M. V., Karbalai, N., Czamara, D., et al. (2015) · Neuron · doi:10.1016/j.neuron.2015.05.034 · Cited by 142 · see citing works
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Suárez-Rama, J. J., Arrojo, M., Sobrino, B., Amigo, J., Brenlla, J., Agra, S., Paz, E., Brión, M., Carracedo, Á., Páramo, M., et al. (2015) · Journal of Psychiatric Research · doi:10.1016/j.jpsychires.2015.04.013 · Cited by 18 · see citing works
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Self-citation
- Authors
- Roussos, P., Mitchell, A. C., Voloudakis, G., Fullard, J. F., Pothula, V. M., Tsang, J., Stahl, E. A., Georgakopoulos, A., Ruderfer, D. M., Charney, A., Okada, Y., Siminovitch, K. A., Worthington, J., Padyukov, L., Klareskog, L., Gregersen, P. K., Plenge, R. M., Raychaudhuri, S., Fromer, M., Purcell, S. M., Brennand, K. J., Robakis, N. K., Schadt, E. E., Akbarian, S., & Sklar, P.
- Affiliations
- James J. Peters VA Medical Center (US)
- Icahn School of Medicine at Mount Sinai (US)
- Tokyo Medical and Dental University (JP)
- Mount Sinai Hospital (CA)
- National Health Service (GB)
- Karolinska Institutet (SE)
- Northwell Health (US)
- Broad Institute (US)
- Corresponding author
- Roussos, Panos
- Sklar, Pamela
- ORCID
- Roussos, Panos
- Mitchell, Amanda C.
- Voloudakis, Georgios
- Fullard, John F.
- Pothula, Venu M.
- Tsang, Jonathan
- Stahl, Eli A.
- Georgakopoulos, Anastasios
- Ruderfer, Douglas M.
- Charney, Alexander
- Okada, Yukinori
- Siminovitch, Katherine A.
- Worthington, Jane
- Padyukov, Leonid
- Klareskog, Lars
- Gregersen, Peter K.
- Plenge, Robert M.
- Raychaudhuri, Soumya
- Fromer, Menachem
- Purcell, Shaun M.
- Brennand, Kristen J.
- Robakis, Nikolaos K.
- Schadt, Eric E.
- Akbarian, Schahram
- Sklar, Pamela
- Venue
- Cell Reports
- Publisher
- Elsevier BV
- Published
- 2014-11
- Volume
- 9
- Issue
- 4
- Pages
- 1417-1429
- ISSN
- 2211-1247 (ISSN-L)
- PMC
- PMC4255904
- OpenAlex
- W1992176272
- Cited by
- 251
- References
- 59
- Citations by year
- 2026: 10 · 2025: 13 · 2024: 15 · 2023: 20 · 2022: 20 · 2021: 14 · 2020: 20 · 2019: 21 · 2018: 33 · 2017: 28 · 2016: 32 · 2015: 24 · 2014: 1
- FWCI
- 18.39
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- Locations
- Cell Reports (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion)
- Research Explorer (The University of Manchester) (submittedVersion)
- Funders
- U.S. Department of Veterans Affairs (I01BX002395)
- Icahn School of Medicine at Mount Sinai
- Wellcome Trust
- National Institute for Health and Care Research (MANMKBRU-2012-1)
- Friedman Brain Institute, Icahn School of Medicine at Mount Sinai
- National Institute on Aging (R37AG017926, P50AG005138)
- National Institute of Mental Health (P50MH096890, T32MH096678, R01MH097276, R01MH101454, U01MH103392, R01MH095034)
- National Institute of Neurological Disorders and Stroke (R21NS076958, R01NS047229)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Health Sciences › Medicine › Psychiatry and Mental health › Schizophrenia research and treatment
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Chromatin Dynamics
- Keywords
- schizophrenia, non-coding variants, expression quantitative trait loci, promoter enrichment, CACNA1C, L-type calcium channels, 3D genome organization, chromatin looping, prefrontal cortex, iPSC-derived neurons, transcriptional regulation
- MeSH terms
- Arthritis, Rheumatoid, Enhancer Elements, Genetic, Gene Expression Regulation, Humans, Organ Specificity, Promoter Regions, Genetic, Protein Binding, Risk Factors, Schizophrenia, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Calcium Channels, L-Type, DNA, Intergenic, Databases, Genetic, Genome-Wide Association Study, Genetic Loci, Molecular Sequence Annotation
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.
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