Disease-associated epigenetic changes in monozygotic twins discordant for schizophrenia and bipolar disorder
Open accessAbstract
Studies of the major psychoses, schizophrenia (SZ) and bipolar disorder (BD), have traditionally focused on genetic and environmental risk factors, although more recent work has highlighted an additional role for epigenetic processes in mediating susceptibility. Since monozygotic (MZ) twins share a common DNA sequence, their study represents an ideal design for investigating the contribution of epigenetic factors to disease etiology. We performed a genome-wide analysis of DNA methylation on peripheral blood DNA samples obtained from a unique sample of MZ twin pairs discordant for major psychosis. Numerous loci demonstrated disease-associated DNA methylation differences between twins discordant for SZ and BD individually, and together as a combined major psychosis group. Pathway analysis of our top loci highlighted a significant enrichment of epigenetic changes in biological networks and pathways directly relevant to psychiatric disorder and neurodevelopment. The top psychosis-associated, differentially methylated region, significantly hypomethylated in affected twins, was located in the promoter of ST6GALNAC1 overlapping a previously reported rare genomic duplication observed in SZ. The mean DNA methylation difference at this locus was 6%, but there was considerable heterogeneity between families, with some twin pairs showing a 20% difference in methylation. We subsequently assessed this region in an independent sample of postmortem brain tissue from affected individuals and controls, finding marked hypomethylation (>25%) in a subset of psychosis patients. Overall, our data provide further evidence to support a role for DNA methylation differences in mediating phenotypic differences between MZ twins and in the etiology of both SZ and BD.
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Cites
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 · see citing works
Weber, M., Hellmann, I., Stadler, M. B., Ramos, L., Pääbo, S., Rebhan, M., & Schübeler, D. (2007) · Nature Genetics · doi:10.1038/ng1990 · Cited by 2,267 · see citing works
Epigenetic regulation in psychiatric disorders
Tsankova, N., Renthal, W., Kumar, A., & Nestler, E. J. (2007) · Nature reviews. Neuroscience · doi:10.1038/nrn2132 · Cited by 1,400 · see citing works
A simple method for estimating global DNA methylation using bisulfite PCR of repetitive DNA elements
Yang, A. S. (2004) · Nucleic Acids Research · doi:10.1093/nar/gnh032 · Cited by 1,033 · see citing works
Bocklandt, S., Lin, W., Sehl, M. E., Sánchez, F. J., Sinsheimer, J. S., Horvath, S., & Vilain, E. (2011) · PLoS ONE · doi:10.1371/journal.pone.0014821 · Cited by 1,012 · see citing works
REST and Its Corepressors Mediate Plasticity of Neuronal Gene Chromatin throughout Neurogenesis
Ballas, N., Grunseich, C., Lu, D. D., Speh, J. C., & Mandel, G. (2005) · Cell · doi:10.1016/j.cell.2005.03.013 · Cited by 930 · see citing works
Strong association of de novo copy number mutations with sporadic schizophrenia
Xu, B., Roos, J. L., Levy, S., van Rensburg, E. J., Gogos, J. A., & Karayiorgou, M. (2008) · Nature Genetics · doi:10.1038/ng.162 · Cited by 813 · see citing works
Meta-analysis of whole-genome linkage scans of bipolar disorder and schizophrenia
Badner, J. A., & Gershon, E. S. (2002) · Molecular Psychiatry · doi:10.1038/sj.mp.4001012 · Cited by 811 · see citing works
Epigenetic Regulation of <i>bdnf</i> Gene Transcription in the Consolidation of Fear Memory
Lubin, F. D., Roth, T. L., & Sweatt, J. D. (2008) · The Journal of Neuroscience · doi:10.1523/jneurosci.1786-08.2008 · Cited by 793 · see citing works
Epigenomic Profiling Reveals DNA-Methylation Changes Associated with Major Psychosis
Mill, J., Tang, T., Kaminsky, Z., Khare, T., Yazdanpanah, S., Bouchard, L., Jia, P., Assadzadeh, A., Flanagan, J., Schumacher, A., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.01.008 · Cited by 773 · see citing works
Self-citationHuman aging-associated DNA hypermethylation occurs preferentially at bivalent chromatin domainsPreprint
Rakyan, V. K., Down, T. A., Maslau, S., Andrew, T., Yang, T.-P., Beyan, H., Whittaker, P., McCann, O. T., Finer, S., Valdes, A. M., et al. (2010) · Genome Research · doi:10.1101/gr.103101.109 · Cited by 750 · see citing works
Javierre, B. M., Fernández, A. F., Richter, J., Al‐Shahrour, F., Martín-Subero, J. I., Rodríguez‐Ubreva, J., Berdasco, M., Fraga, M. F., OʼHanlon, T. P., Rider, L. G., et al. (2009) · Genome Research · doi:10.1101/gr.100289.109 · Cited by 669 · see citing works
DNA methylation profiles in monozygotic and dizygotic twins
Kaminsky, Z. A., Tang, T., Wang, S.-C., Ptak, C., Oh, G., Wong, A. H. C., Feldcamp, L. A., Virtanen, C., Halfvarson, J., Tysk, C., et al. (2009) · Nature Genetics · doi:10.1038/ng.286 · Cited by 662 · see citing works
Tobacco-smoking-related differential DNA methylation: 27K discovery and replication
Breitling, L. P., Yang, R., Korn, B., Burwinkel, B., & Brenner, H. (2011) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.03.003 · Cited by 640 · see citing works
Genome-Wide Dna Methylation Profiling Using Infinium ® Assay
Bibikova, M. V., Le, J. M., Barnes, B., Saedinia-Melnyk, S., Zhou, L., Shen, R., & Gunderson, K. L. (2009) · Epigenomics · doi:10.2217/epi.09.14 · Cited by 592 · see citing works
The genetics of schizophrenia and bipolar disorder: dissecting psychosis
Craddock, N., O’Donovan, M. C., & Owen, M. J. (2005) · Journal of Medical Genetics · doi:10.1136/jmg.2005.030718 · Cited by 574 · see citing works
The Stanley Foundation brain collection and Neuropathology Consortium
Torrey, Ε. F., Webster, M. J., Knable, M. B., Johnston, N., & Yolken, R. H. (2000) · Schizophrenia Research · doi:10.1016/s0920-9964(99)00192-9 · Cited by 533 · see citing works
Craddock, N. J., & Jones, I. R. (1999) · Journal of Medical Genetics · doi:10.1136/jmg.36.8.585 · Cited by 523 · see citing works
Borowsky, B., Durkin, M. M., Ogozalek, K. L., Marzabadi, M. R., DeLeon, J., Heurich, R. O., Lichtblau, H., Shaposhnik, Z., Daniewska, I., Blackburn, T. P., et al. (2002) · Nature Medicine · doi:10.1038/nm741 · Cited by 506 · see citing works
Global Mental Health: A New Global Health Field Comes of Age
Patel, V., & Prince, M. (2010) · JAMA · doi:10.1001/jama.2010.616 · Cited by 485 · see citing works
A Twin Study of Genetic Relationships Between Psychotic Symptoms
Cardno, A. G., Rijsdijk, F. V., Sham, P. C., Murray, R. M., & McGuffin, P. (2002) · American Journal of Psychiatry · doi:10.1176/appi.ajp.159.4.539 · Cited by 460 · see citing works
Self-citationFrancks, C., Maegawa, S., Laurén, J., Abrahams, B. S., Velayos‐Baeza, A., Medland, S. E., Colella, S., Groszer, M., McAuley, E. Z., Caffrey, T. M., et al. (2007) · Molecular Psychiatry · doi:10.1038/sj.mp.4002053 · Cited by 355 · see citing works
A twin approach to unraveling epigenetics
Bell, J. T., & Spector, T. D. (2011) · Trends in Genetics · doi:10.1016/j.tig.2010.12.005 · Cited by 353 · see citing works
Epigenetic choreographers of neurogenesis in the adult mammalian brain
Dengke, K., Marchetto, M. C., Guo, J. U., Ming, G., Gage, F. H., & Song, H. (2010) · Nature Neuroscience · doi:10.1038/nn.2672 · Cited by 332 · see citing works
A longitudinal study of epigenetic variation in twins
Wong, C. C. Y., Caspi, A., Williams, B. S., Craig, I., Houts, R., Ambler, A. P., Moffitt, T. E., & Mill, J. S. (2010) · Epigenetics · doi:10.4161/epi.5.6.12226 · Cited by 320 · see citing works
Self-citationGenetics, environmental factors and the emerging role of epigenetics in neurodegenerative diseases
Migliore, L., & Coppedè, F. (2008) · Mutation research. Fundamental and molecular mechanisms of mutagenesis · doi:10.1016/j.mrfmmm.2008.10.011 · Cited by 319 · see citing works
Genome-wide association and meta-analysis of bipolar disorder in individuals of European ancestry
Scott, L. J., Muglia, P., Kong, X., Guan, W., Flickinger, M., Upmanyu, R., Tozzi, F., Li, J. Z., Burmeister, M., Absher, D., et al. (2009) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0813386106 · Cited by 314 · see citing works
Monozygotic Twins Exhibit Numerous Epigenetic Differences: Clues to Twin Discordance?
Petronis, A., Gottesman, I. I., Kan, P., Kennedy, J. L., Basile, V. S., Paterson, A. D., & Popendikytė, V. (2003) · Schizophrenia Bulletin · doi:10.1093/oxfordjournals.schbul.a006988 · Cited by 312 · see citing works
Exploring and explaining epigenetic effects
Henikoff, S., & Matzke, M. A. (1997) · Trends in Genetics · doi:10.1016/s0168-9525(97)01219-5 · Cited by 307 · see citing works
Clozapine and sulpiride but not haloperidol or olanzapine activate brain DNA demethylation
Dong, E., Nelson, M., Grayson, D. R., Costa, E., & Guidotti, A. (2008) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0805493105 · Cited by 284 · see citing works
DeLisi, L. E., Shaw, S. H., Crow, T. J., Shields, G. W., Smith, A., Larach, V. W., Wellman, N. A., Loftus, J., Nanthakumar, B., Razi, K., et al. (2002) · American Journal of Psychiatry · doi:10.1176/appi.ajp.159.5.803 · Cited by 246 · see citing works
Allelic Skewing of DNA Methylation Is Widespread across the Genome
Schalkwyk, L. C., Meaburn, E. L., Smith, R. G., Dempster, E. L., Jeffries, A. R., Davies, M. N., Plomin, R. J., & Mill, J. S. (2010) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.01.014 · Cited by 244 · see citing works
Self-citationCoolen, M. W., Statham, A. L., Gardiner‐Garden, M., & Clark, S. J. (2007) · Nucleic Acids Research · doi:10.1093/nar/gkm662 · Cited by 237 · see citing works
Sapienza, C., Lee, J. Y. H., Powell, J., Erinle, O., Yafai, F., Reichert, J., Siraj, E. S., & Madaio, M. P. (2011) · Epigenetics · doi:10.4161/epi.6.1.13362 · Cited by 208 · see citing works
Borowsky, B., Durkin, M. M., Ogozalek, K. L., Marzabadi, M. R., DeLeon, J., Heurich, R. O., Lichtblau, H., Shaposhnik, Z., Daniewska, I., Blackburn, T. P., et al. (2002) · Nature Medicine · doi:10.1038/nm0902-1039b · Cited by 192 · see citing works
Kuratomi, G., Iwamoto, K., Bundo, M., Kusumi, I., Kato, N., Iwata, N., Ozaki, N., & Kato, T. (2007) · Molecular Psychiatry · doi:10.1038/sj.mp.4002001 · Cited by 188 · see citing works
Rethinking psychosis: the disadvantages of a dichotomous classification now outweigh the advantages.
Craddock, N. J., & Owen, M. J. (2007) · Europe PMC (PubMed Central) · Cited by 184 · see citing works
Copy-number variants in neurodevelopmental disorders: promises and challenges
Merikangas, A. K., Corvin, A. P., & Gallagher, L. (2009) · Trends in Genetics · doi:10.1016/j.tig.2009.10.006 · Cited by 133 · see citing works
Kaminsky, Z. A., Tochigi, M., Jia, P., Pal, M., Mill, J. S., Kwan, A., Ioshikhes, I. P., Vincent, J. B., Kennedy, J. L., Strauss, J., et al. (2011) · Molecular Psychiatry · doi:10.1038/mp.2011.64 · Cited by 132 · see citing works
Self-citationChaki, S., Funakoshi, T., Hirota-Okuno, S., Nishiguchi, M., Shimazaki, T., Iijima, M., Grottick, A. J., Kanuma, K., Omodera, K., Sekiguchi, Y., et al. (2005) · Journal of Pharmacology and Experimental Therapeutics · doi:10.1124/jpet.104.081711 · Cited by 132 · see citing works
Ghadirivasfi, M., Nohesara, S., Ahmadkhaniha, H., Eskandari, M. R., Mostafavi, S., Thiagalingam, S., & Abdolmaleky, H. M. (2011) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.31192 · Cited by 127 · see citing works
Angata, K., Huckaby, V., Ranscht, B., Terskikh, A. V., Marth, J. D., & Fukuda, M. (2007) · Molecular and Cellular Biology · doi:10.1128/mcb.00205-07 · Cited by 124 · see citing works
Pidsley, R., & Mill, J. S. (2010) · Biological Psychiatry · doi:10.1016/j.biopsych.2010.03.029 · Cited by 115 · see citing works
Self-citationHistone acetylation in drug addiction
Renthal, W., & Nestler, E. J. (2009) · Seminars in Cell & Developmental Biology · doi:10.1016/j.semcdb.2009.01.005 · Cited by 109 · see citing works
Positive association between SIAT8B and schizophrenia in the Chinese Han population
TAO, R., LI, C., Zheng, Y., QIN, W., Zhang, J., Li, X., Xu, Y., Shi, Y., FENG, G., & He, L. (2006) · Schizophrenia Research · doi:10.1016/j.schres.2006.09.029 · Cited by 91 · see citing works
Signaling to the circadian clock: plasticity by chromatin remodeling
Nakahata, Y., Grimaldi, B., Sahar, S., Hirayama, J., & Sassone‐Corsi, P. (2007) · Current Opinion in Cell Biology · doi:10.1016/j.ceb.2007.02.016 · Cited by 87 · see citing works
Rosa, A., Picchioni, M., Kalidindi, S., Loat, C. S., Knight, J., Toulopoulou, T., Vonk, R., van der Schot, A. C., Nolen, W. A., Kahn, R. S., et al. (2007) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.30616 · Cited by 85 · see citing works
Self-citationLi, L., Lee, K.-M., Han, W., Choi, J., Lee, J., Kang, G. H., Park, S. K., Noh, D., Yoo, K.-Y., & Kang, D. (2010) · Human Molecular Genetics · doi:10.1093/hmg/ddq351 · Cited by 84 · see citing works
Leukocyte DNA Methylation Signature Differentiates Pancreatic Cancer Patients from Healthy Controls
Pedersen, K. S., Bamlet, W. R., Oberg, A. L., de Andrade, M., Matsumoto, M., Tang, H. D., Thibodeau, S. N., Petersen, G. M., & Wang, L. (2011) · PLoS ONE · doi:10.1371/journal.pone.0018223 · Cited by 80 · see citing works
Dysregulation of the Mesolimbic Dopamine System and Reward in MCH−/− Mice
Pissios, P., Frank, L., Kennedy, A. R., Porter, D. R., Marino, F. E., Liu, F., Pothos, E. N., & Maratos–Flier, E. (2008) · Biological Psychiatry · doi:10.1016/j.biopsych.2007.12.011 · Cited by 79 · see citing works
Smith, A., Bourdeau, I., Wang, J., & Bondy, C. A. (2005) · Molecular Brain Research · doi:10.1016/j.molbrainres.2004.12.025 · Cited by 34 · see citing works
Neurological Abnormalities in Schizophrenic Twins
Picchioni, M., Toulopoulou, T., Landau, S., Davies, N., Ribchester, T., & Murray, R. M. (2005) · Biological Psychiatry · doi:10.1016/j.biopsych.2005.07.007 · Cited by 31 · see citing works
Self-citationBrain weight in males is correlated with DNA methylation at IGF2
Pidsley, R., Dempster, E. L., & Mill, J. S. (2009) · Molecular Psychiatry · doi:10.1038/mp.2009.138 · Cited by 30 · see citing works
Self-citationEpigenetic Profiling in Schizophrenia and Major Mental Disorders
Iwamoto, K., & Kato, T. (2009) · Neuropsychobiology · doi:10.1159/000234811 · Cited by 27 · see citing works
Severinsen, J. E., Als, T. D., Binderup, H. G., Kruse, T. A., Wang, A. G., Vang, M., Muir, W. J., Blackwood, D., Mors, O. N., & Børglum, A. D. (2006) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.30335 · Cited by 22 · see citing works
Smith, F. I., Qu, Q., Hong, S. J., Kim, K., Gilmartin, T. J., & Head, S. R. (2005) · Gene Expression Patterns · doi:10.1016/j.modgep.2005.04.006 · Cited by 21 · see citing works
Cardno, A. G., & Gottesman, I. I. (2000) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(200021)97:1
Flagged first, then by citations
Cited by
Sorted by citations
A data-driven approach to preprocessing Illumina 450K methylation array data
Pidsley, R., Y Wong, C. C., Volta, M., Lunnon, K., Mill, J., & Schalkwyk, L. C. (2013) · BMC Genomics · doi:10.1186/1471-2164-14-293 · Cited by 1,143 · see citing works
“However, for the investigation of subtle differences, such as those seen in common complex disorders such as schizophrenia [9,10] and diabetes [11],”
BackgroundSelf-citationMethylomic profiling implicates cortical deregulation of ANK1 in Alzheimer's disease
Lunnon, K., Smith, R., Hannon, E., De Jager, P. L., Srivastava, G., Volta, M., Troakes, C., Al-Sarraj, S., Burrage, J., Macdonald, R., et al. (2014) · Nature Neuroscience · doi:10.1038/nn.3782 · Cited by 574 · see citing works
Self-citationBabenko, O., Kovalchuk, I., & Metz, G. A. S. (2015) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2014.11.013 · Cited by 513 · see citing works
Epigenetic basis of mental illness
Nestler, E. J., Peña, C. J., Kundakovic, M., Mitchell, A., & Akbarian, S. (2016) · The Neuroscientist · doi:10.1177/1073858415608147 · Cited by 342 · see citing works
Hannon, E., Dempster, E., Viana, J., Burrage, J., Smith, A. R., Macdonald, R., St Clair, D., Mustard, C., Breen, G., Therman, S., et al. (2016) · Genome Biology · doi:10.1186/s13059-016-1041-x · Cited by 349 · see citing works
Self-citationWong, C. C. Y., Meaburn, E. L., Ronald, A., Price, T. S., Jeffries, A. R., Schalkwyk, L. C., Plomin, R., & Mill, J. (2014) · Molecular Psychiatry · doi:10.1038/mp.2013.41 · Cited by 327 · see citing works
Self-citationCortessis, V. K., Thomas, D. C., Levine, A. J., Breton, C. V., Mack, T. M., Siegmund, K. D., Haile, R. W., & Laird, P. W. (2012) · Human Genetics · doi:10.1007/s00439-012-1189-8 · Cited by 319 · see citing works
Walton, E., Hass, J., Liu, J., Roffman, J. L., Bernardoni, F., Roessner, V., Kirsch, M., Schackert, G., Calhoun, V., & Ehrlich, S. (2016) · Schizophrenia Bulletin · doi:10.1093/schbul/sbv074 · Cited by 286 · see citing works
Child abuse and epigenetic mechanisms of disease risk
Yang, B.-Z., Zhang, H., Ge, W., Weder, N., Douglas-Palumberi, H., Perepletchikova, F., Gelernter, J., & Kaufman, J. (2013) · American Journal of Preventive Medicine · doi:10.1016/j.amepre.2012.10.012 · Cited by 256 · see citing works
Aberg, K. A., McClay, J. L., Nerella, S., Clark, S., Kumar, G., Chen, W., Khachane, A. N., Xie, L., Hudson, A., Gao, G., et al. (2014) · JAMA Psychiatry · doi:10.1001/jamapsychiatry.2013.3730 · Cited by 248 · see citing works
The Research Domain Criteria (RDoC): An analysis of methodological and conceptual challenges
Lilienfeld, S. O. (2014) · Behaviour Research and Therapy · doi:10.1016/j.brat.2014.07.019 · Cited by 248 · see citing works
Unternaehrer, E., Luers, P., Mill, J., Dempster, E., Meyer, A. H., Staehli, S., Lieb, R., Hellhammer, D. H., & Meinlschmidt, G. (2012) · Translational Psychiatry · doi:10.1038/tp.2012.77 · Cited by 250 · see citing works
Self-citationOn the outside, looking in: A review and evaluation of the comparability of blood and brain “‐omes”
Tylee, D. S., Kawaguchi, D. M., & Glatt, S. J. (2013) · American Journal of Medical Genetics Part B: Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32150 · Cited by 243 · see citing works
Systematic reviews of animal models: methodology versus epistemology
Greek, R., & Menache, A. (2013) · International Journal of Medical Sciences · doi:10.7150/ijms.5529 · Cited by 207 · see citing works
Milekic, M. H., Xin, Y., O’Donnell, A., Kumar, K. K., Bradley-Moore, M., Malaspina, D., Moore, H., Brunner, D., Ge, Y., Edwards, J., et al. (2015) · Molecular Psychiatry · doi:10.1038/mp.2014.84 · Cited by 190 · see citing works
Association of DNA methylation differences with schizophrenia in an Epigenome-Wide association study
Montano, C., Taub, M. A., Jaffe, A., Briem, E., Feinberg, J. I., Trygvadottir, R., Idrizi, A., Runarsson, A., Berndsen, B., Gur, R. C., et al. (2016) · JAMA Psychiatry · doi:10.1001/jamapsychiatry.2016.0144 · Cited by 180 · see citing works
Dissecting psychiatric spectrum disorders by generative embedding
Brodersen, K. H., Deserno, L., Schlagenhauf, F., Lin, Z., Penny, W. D., Buhmann, J. M., & Stephan, K. E. (2014) · NeuroImage: Clinical · doi:10.1016/j.nicl.2013.11.002 · Cited by 173 · see citing works
Vukojevic, V., Kolassa, I.-T., Fastenrath, M., Gschwind, L., Spalek, K., Milnik, A., Heck, A., Vogler, C., Wilker, S., Demougin, P., et al. (2014) · Journal of Neuroscience · doi:10.1523/jneurosci.1526-14.2014 · Cited by 168 · see citing works
Methylomic profiling of human brain tissue supports a neurodevelopmental origin for schizophrenia
Pidsley, R., Viana, J., Hannon, E., Spiers, H., Troakes, C., Al-Saraj, S., Mechawar, N., Turecki, G., Schalkwyk, L. C., Bray, N. J., et al. (2014) · Genome biology · doi:10.1186/s13059-014-0483-2 · Cited by 157 · see citing works
Lowe, R., Gemma, C., Beyan, H., Hawa, M. I., Bazeos, A., Leslie, R. D., Montpetit, A., Rakyan, V. K., & Ramagopalan, S. V. (2013) · Epigenetics · doi:10.4161/epi.24362 · Cited by 160 · see citing works
Hannon, 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
“…et al., 2014 ), and also detected disease-associated variation in peripheral blood samples from both schizophrenia-dis-cordant monozygotic twin pairs ( Dempster et al., 2011 ) and clinically ascertained case-control cohorts ( Aberg et al., 2014 ; Hannon et al., 2016a ; Kinoshita et al., 2014 ).”
Self-citationEpigenetic Research in Neuropsychiatric Disorders: the “Tissue Issue”
Bakulski, K. M., Halladay, A., Hu, V. W., Mill, J., & Fallin, M. D. (2016) · Current Behavioral Neuroscience Reports · doi:10.1007/s40473-016-0083-4 · Cited by 127 · see citing works
Self-citationNeurodevelopmental 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
Prenatal maternal immune activation causes epigenetic differences in adolescent mouse brain
Basil, P., Li, Q., Dempster, E. L., Mill, J., Sham, P.-C., Wong, C. C. Y., & McAlonan, G. M. (2014) · Translational Psychiatry · doi:10.1038/tp.2014.80 · Cited by 116 · see citing works
Self-citationCórdova-Palomera, A., Fatjó-Vilas, M., Gastó, C., Navarro, V, Krebs, M.-O., & Fañanás, L. (2015) · Translational Psychiatry · doi:10.1038/tp.2015.49 · Cited by 117 · see citing works
Origins of human disease: the chrono-epigenetic perspective
Oh, E. S., & Petronis, A. (2021) · Nature Reviews Genetics · doi:10.1038/s41576-021-00348-6 · Cited by 108 · see citing works
Rodgers, A. B., & Bale, T. L. (2015) · Biological Psychiatry · doi:10.1016/j.biopsych.2015.03.018 · Cited by 91 · see citing works
Serpeloni, F., Radtke, K. M., Hecker, T., Sill, J., Vukojevic, V., Assis, S. G. D., Schauer, M., Elbert, T., & Nätt, D. (2019) · Frontiers in Genetics · doi:10.3389/fgene.2019.00269 · Cited by 77 · see citing works
Schuebel, K., Gitik, M., Domschke, K., & Goldman, D. (2016) · International Journal of Neuropsychopharmacology · doi:10.1093/ijnp/pyw058 · Cited by 75 · see citing works
DNA Modification Study of Major Depressive Disorder: Beyond Locus-by-Locus Comparisons
Oh, G., Wang, S.-C., Pal, M., Chen, Z. F., Khare, T., Tochigi, M., Ng, C., Yang, Y. A., Kwan, A., Kaminsky, Z. A., et al. (2015) · Biological Psychiatry · doi:10.1016/j.biopsych.2014.06.016 · Cited by 66 · see citing works
Self-citationEarly life trauma, depression and the glucocorticoid receptor gene—An epigenetic perspective
Smart, C., Strathdee, G., Watson, S., Murgatroyd, C., & McAllister-Williams, R. H. (2015) · Psychological Medicine · doi:10.1017/s0033291715001555 · Cited by 61 · see citing works
Epigenome-wide association study of DNA methylation in panic disorder
Shimada-Sugimoto, M., Otowa, T., Miyagawa, T., Umekage, T., Kawamura, Y., Bundo, M., Iwamoto, K., Tochigi, M., Kasai, K., Kaiya, H., et al. (2017) · Clinical Epigenetics · doi:10.1186/s13148-016-0307-1 · Cited by 61 · see citing works
Khulan, B., Manning, J. R., Dunbar, D. R., Seckl, J. R., Raikkonen, K., Eriksson, J. G., & Drake, A. J. (2014) · Translational Psychiatry · doi:10.1038/tp.2014.94 · Cited by 59 · see citing works
Epigenome-Wide Association Study of Cognitive Functioning in Middle-Aged Monozygotic Twins
Starnawska, A., Tan, Q., McGue, M., Mors, O., Børglum, A. D., Christensen, K., Nyegaard, M., & Christiansen, L. (2017) · Frontiers in Aging Neuroscience · doi:10.3389/fnagi.2017.00413 · Cited by 54 · see citing works
Epigenetics in bipolar disorder: a critical review of the literature
Legrand, A., Iftimovici, A., Khayachi, A., & Chaumette, B. (2021) · Psychiatric Genetics · doi:10.1097/ypg.0000000000000267 · Cited by 48 · see citing works
DNA Methylation in Schizophrenia Subjects: Gender and <i>MTHFR</i> 677C/T Genotype Differences
Burghardt, K. J., Pilsner, J. R., Bly, M. J., & Ellingrod, V. L. (2012) · Epigenomics · doi:10.2217/epi.12.25 · Cited by 49 · see citing works
The DNA methylome in panic disorder: A case-control and longitudinal psychotherapy-epigenetic study
Ziegler, C., Grundner-Culemann, F., Schiele, M. A., Schlosser, P., Kollert, L., Mahr, M., Gajewska, A., Lesch, K.-P., Deckert, J., Köttgen, A., et al. (2019) · Translational Psychiatry · doi:10.1038/s41398-019-0648-6 · Cited by 47 · see citing works
Sun, Y. V. (2014) · Current Genetic Medicine Reports · doi:10.1007/s40142-014-0058-2 · Cited by 27 · see citing works
<i>NTRK2</i> methylation is related to reduced PTSD risk in two African cohorts of trauma survivors
Vukojevic, V., Coynel, D., Ghaffari, N. R., Freytag, V., Elbert, T., Kolassa, I.-T., Wilker, S., McGaugh, J. L., Papassotiropoulos, A., & de Quervain, D. J.-F. (2020) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2008415117 · Cited by 19 · see citing works
- Authors
- Dempster, E. L., Pidsley, R., Schalkwyk, L. C., Owens, S., Georgiades, A., Kane, F., Kalidindi, S., Picchioni, M., Kravariti, E., Toulopoulou, T., Murray, R. M., & Mill, J.
- Affiliations
- King's College London (GB)
- Corresponding author
- Mill, Jonathan
- ORCID
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 2011-09-09
- Volume
- 20
- Issue
- 24
- Pages
- 4786-4796
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- PMC
- PMC3221539
- OpenAlex
- W2122230573
- Cited by
- 460
- References
- 57
- Citations by year
- 2026: 7 · 2025: 7 · 2024: 13 · 2023: 10 · 2022: 12 · 2021: 24 · 2020: 20 · 2019: 23 · 2018: 23 · 2017: 34 · 2016: 49 · 2015: 50 · 2014: 80 · 2013: 56 · 2012: 49
- FWCI
- 24.43
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- cc-by-nc
- Locations
- Human Molecular Genetics (publishedVersion, cc-by-nc)
- Europe PMC (PubMed Central) (publishedVersion, cc-by-nc)
- PubMed Central (publishedVersion, cc-by-nc)
- PubMed (publishedVersion)
- Open Access at Essex (University of Essex) (acceptedVersion)
- Minerva Access (University of Melbourne) (submittedVersion, cc-by-nc)
- UCL Discovery (University College London) (submittedVersion)
- The HKU Scholars Hub (University of Hong Kong) (submittedVersion)
- Research Portal (King's College London) (submittedVersion)
- Funders
- Wellcome Trust
- National Institute on Aging (R01AG036039, AG036039)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Epigenetics and DNA Methylation
- Health Sciences › Medicine › Psychiatry and Mental health › Schizophrenia research and treatment
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- schizophrenia, bipolar disorder, monozygotic twins, DNA methylation, epigenetics, psychosis, ST6GALNAC1, genomic duplication, promoter hypomethylation, postmortem brain, etiology, differentially methylated regions
- MeSH terms
- Bipolar Disorder, Demography, Female, Humans, Male, Promoter Regions, Genetic, Schizophrenia, Twins, Monozygotic, Reproducibility of Results, Genome, Human, CpG Islands, DNA Methylation, Genetic Predisposition to Disease, Epigenesis, Genetic, Gene Regulatory Networks, Young Adult
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
