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Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology
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Abstract
Abstract Bipolar disorder (BD) is a heritable mental illness with complex etiology. We performed a genome-wide association study (GWAS) of 41,917 BD cases and 371,549 controls of European ancestry, which identified 64 associated genomic loci. BD risk alleles were enriched in genes in synaptic signaling pathways and brain-expressed genes, particularly those with high specificity of expression in neurons of the prefrontal cortex and hippocampus. Significant signal enrichment was found in genes encoding targets of antipsychotics, calcium channel blockers, antiepileptics and anesthetics. Integrating eQTL data implicated 15 genes robustly linked to BD via gene expression, encoding druggable targets such as HTR6, MCHR1, DCLK3 and FURIN. Analyses of BD subtypes indicated high but imperfect genetic correlation between BD type I and II and identified additional associated loci. Together, these results advance our understanding of the biological etiology of BD, identify novel therapeutic leads and prioritize genes for functional follow-up studies.
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“As previous studies and our results suggest, EduYears shows phenotypic correlations and shares genetic components with multiple traits and diseases relevant to medical research, including cognitive function, neurodegeneration and psychiatric disorders43–46”
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Temporally distinct 3D multi-omic dynamics in the developing human brain
Heffel, M. G., Zhou, J., Zhang, Y., Lee, D.-S., Hou, K., Pastor-Alonso, O., Abuhanna, K. D., Galasso, J., Kern, C., Tai, C., et al. (2024) · Nature · doi:10.1038/s41586-024-08030-7 · Cited by 75
“The genome-wide association study (GWAS) summary statistics included in this study were as follows: schizophrenia 40 , bipolar disorder 62 , major depressive disorder 63 , attention deficit hyperactivity disorder 64 , autism spectrum disorder 65 , Alzheimer’s disease 66 and height from the UK…”
Austin-Zimmerman, I., Levey, D. F., Giannakopoulou, O., Deak, J. D., Galimberti, M., Adhikari, K., Zhou, H., Denaxas, S., Irizar, H., Kuchenbaecker, K. B., et al. (2023) · Nature Communications · doi:10.1038/s41467-023-41249-y · Cited by 67
“We fi ltered results based on a PIP threshold of ≥ 0.7 74 (see Supplementary data 26, 27).”
InfluentialSelf-citationAryal, S., Bonanno, K., Song, B. J., Mani, D. R., Keshishian, H., Carr, S. A., Sheng, M., & Dejanovic, B. (2023) · Cell Reports · doi:10.1016/j.celrep.2023.112497 · Cited by 77
Cross-ancestry atlas of gene, isoform, and splicing regulation in the developing human brain
Wen, C. H., Margolis, M. P., Dai, R., Zhang, P., Przytycki, P. F., Vo, D., Bhattacharya, A., Matoba, N., Tang, M., Jiao, C., et al. (2024) · Science · doi:10.1126/science.adh0829 · Cited by 65
“We chose five GWASs of brain-relevant neuro-psychiatric traits: SCZ, ASD, bipolar disorder (BIP), attention deficit hyperactivity disorder (ADHD), and major depression disorder (MDD) ( 1 , 2 , 60 – 62 ).”
MethodSelf-citationCui, Y., Arnold, F. J., Peng, F., Wang, D., Li, J. S., Michels, S., Wagner, E. J., Spada, A. R. L., & Li, W. (2023) · Nature Communications · doi:10.1038/s41467-023-36311-8 · Cited by 50
“…risk of developing various brain disorders, including attention de fi cit hyperactivity disorder (ADHD) 14 , autism spectrum disorder (ASD) 15 , bipolar disorder (BIP) 16 , major depression (MD) 17 , schizophrenia (SCZ) 18 , Parkinson ’ s disease (PD) 19 , and Alzheimer ’ s disease (AD) 20 .”
BackgroundRødevand, L. N., Bahrami, S., Frei, O., Chu, Y., Shadrin, A. A., O’Connell, K. S., Smeland, O. B., Elvsåshagen, T., Hindley, G., Djurovic, S., et al. (2021) · Translational Psychiatry · doi:10.1038/s41398-021-01527-z · Cited by 55
Self-citationThe genetic relationships between brain structure and schizophrenia
Stauffer, E.-M., Bethlehem, R. A. I., Dorfschmidt, L., Won, H., Warrier, V., & Bullmore, E. T. (2023) · Nature Communications · doi:10.1038/s41467-023-43567-7 · Cited by 61
Self-citationRichards, A. L., Cardno, A. G., Harold, G. T., Craddock, N. J., Florio, A. D., Jones, L. A., Gordon‐Smith, K., Jones, I. R., Sellers, R., Walters, J., et al. (2022) · JAMA Psychiatry · doi:10.1001/jamapsychiatry.2022.2594 · Cited by 58
Self-citationBhattacharya, A., Vo, D., Jops, C. T., Kim, M., Wen, C. H., Hervoso, J. L., Paşaniuc, B., & Gandal, M. J. (2023) · Nature Genetics · doi:10.1038/s41588-023-01560-2 · Cited by 61
Self-citationLi, W., Chen, R., Feng, L., Dang, X., Liu, J., Chen, T., Yang, J., Su, X., Lv, L., Li, T., et al. (2023) · Nature Human Behaviour · doi:10.1038/s41562-023-01746-y · Cited by 48
“Compared with other common mental disorders such as schizophrenia 15,80 , depression 81,82 and bipolar disorder 83 , the genetic study of anxiety disorders lags far behind.”
Self-citationPopulation-level variation in enhancer expression identifies disease mechanisms in the human brain
Dong, P., Hoffman, G. E., Apontes, P., Bendl, J. M., Rahman, S., Fernando, M. B., Zeng, B., Vicari, J. M., Zhang, W., Girdhar, K., et al. (2022) · Nature Genetics · doi:10.1038/s41588-022-01170-4 · Cited by 45
Self-citationHow can same-gene mutations promote both cancer and developmental disorders?
Nussinov, R., Tsai, C., & Jang, H. (2022) · Science Advances · doi:10.1126/sciadv.abm2059 · Cited by 56
Fröhlich, A. S., Gerstner, N., Gagliardi, M., Ködel, M., Yusupov, N., Matosin, N., Czamara, D., Sauer, S., Roeh, S., Murek, V., et al. (2024) · Nature Neuroscience · doi:10.1038/s41593-024-01742-z · Cited by 54
Customizing delivery nano-vehicles for precise brain tumor therapy
Miao, Y., Wang, Z., Gao, R., Ying, G., & Shi, Y. (2023) · Journal of Nanobiotechnology · doi:10.1186/s12951-023-01775-9 · Cited by 58
“This is in line with the results of the autopsy investigation conducted by Price and Johnson, who looked at 126 brain samples and found arachnoid involvement in 70 of them [35].”
ResultNamkung, H., Yukitake, H., Fukudome, D., Lee, B. J., Tian, M., Ursini, G., Saito, A., Lam, S., Kannan, S., Srivastava, R., et al. (2021) · bioRxiv · doi:10.1101/2021.10.19.465053 · Cited by 47
“…implicated in social interaction and psychostimulant sensitivity, such as the nucleus accumbens and the ventral tegmental area (Deng et al., 2010; Murugan et al., 2017), we focused on investigating excitatory neurons in the mPFC, which are the dominant source of cortical outputs (Brown and…”
BackgroundSelf-citationTesfaye, M., Jaholkowski, P., Hindley, G. F. L., Shadrin, A. A., Rahman, Z., Bahrami, S., Lin, A., Holen, B., Parker, N., Cheng, W., et al. (2023) · Genome Medicine · doi:10.1186/s13073-023-01212-4 · Cited by 46
“cFDR 40,463 313,436 European PGC-BIP [34] PGC-MD + 23andMe + UKBB [30] MD MiXeR 246,363 561,190 European”
BackgroundMethodInfluentialSelf-citationHafez, A. K., Zimmerman, A. J., Papageorgiou, G., Chandrasekaran, J., Amoah, S. K., Lin, R., Lozano, E., Pierotti, C. E., Dell’Orco, M., Hartley, B. J., et al. (2020) · Cell Reports · doi:10.1016/j.celrep.2021.110282 · Cited by 52
Self-citationPrognostic value of polygenic risk scores for adults with psychosis
Landi, I., Kaji, D. A., Cotter, L., Vleck, T. T. V., Belbin, G. M., Preuss, M. H., Loos, R. J. F., Kenny, E. E., Glicksberg, B. S., Beckmann, N. D., et al. (2021) · Nature Medicine · doi:10.1038/s41591-021-01475-7 · Cited by 68
Self-citationOsete, J. R., Akkouh, I. A., Ievglevskyi, O., Vandenberghe, M., de Assis, D. R., Ueland, T., Kondratskaya, E., Holen, B., Szabó, A., Hughes, T., et al. (2023) · Molecular Psychiatry · doi:10.1038/s41380-023-01944-0 · Cited by 52
“7g, h), consistent with our fi nding that Li-induced reduction in IRR occurs during the fi rst hours of treatment and rapidly fades away.”
BackgroundInfluentialSelf-citationChen, W., Feng, J., Jiang, S., Guo, J., Zhang, X., Zhang, X., Wang, C., Ma, Y., & Dong, Z. (2023) · Journal of Affective Disorders · doi:10.1016/j.jad.2023.07.044 · Cited by 52
Calafate, S., Özturan, G., Thrupp, N., Vanderlinden, J., Marinha, L. S., Morais‐Ribeiro, R., Ruggiero, A., Bozic, I., Rusterholz, T., Lorente-Echeverría, B., et al. (2023) · Nature Neuroscience · doi:10.1038/s41593-023-01325-4 · Cited by 67
Genetic architecture of brain age and its causal relations with brain and mental disorders
Leonardsen, E. H., Dídac Vidal-piñeiro, A., Roe, J. M., Frei, O., Shadrin, A. A., Iakunchykova, O. P., de Lange, A. G., Kaufmann, T., Taschler, B., Smith, S. M., et al. (2023) · Molecular Psychiatry · doi:10.1038/s41380-023-02087-y · Cited by 48
“GWAS summary data for four disorders (SCZ [36], BIP [37], MDD [38], and AD [39]) were obtained from the Psychiatric Genomics Consortium (PGC, https://med.unc.edu/pgc/download-results).”
MethodSelf-citationAdolescent Psychedelic Use and Psychotic or Manic Symptoms
Simonsson, O., Mosing, M. A., Osika, W., Ullén, F., Larsson, H., Lu, Y., & Wesseldijk, L. W. (2024) · JAMA Psychiatry · doi:10.1001/jamapsychiatry.2024.0047 · Cited by 49
Circulating Proteins Influencing Psychiatric Disease: A Mendelian Randomization Study
Lu, T., Forgetta, V., Greenwood, C. M. T., Zhou, S., & Richards, J. B. (2022) · Biological Psychiatry · doi:10.1016/j.biopsych.2022.08.015 · Cited by 54
Roles and mechanisms of ankyrin-G in neuropsychiatric disorders
Yoon, S., Piguel, N. H., & Penzes, P. (2022) · Experimental & Molecular Medicine · doi:10.1038/s12276-022-00798-w · Cited by 48
Hatzimanolis, O., Sykes, A. M., & Cristino, A. S. (2025) · Molecular Psychiatry · doi:10.1038/s41380-025-02925-1 · Cited by 44
“As with other GWAS fi ndings, most identi fi ed SNPs are in non-coding regions (94%), with a substantial proportion in intronic regions (64%), which may in fl uence the regulation of circRNA expression [252].”
InfluentialMarchi, M., Alkema, A., Xia, C., Thio, C. H. L., Chen, L.-Y., Schalkwijk, W., Galeazzi, G. M., Ferrari, S., Pingani, L., Kweon, H., et al. (2024) · Nature Human Behaviour · doi:10.1038/s41562-024-01919-3 · Cited by 47
Self-citationGenetic regulation of cell type–specific chromatin accessibility shapes brain disease etiology
Zeng, B., Bendl, J. M., Deng, C., Lee, D., Misir, R., Reach, S. M., Kleopoulos, S. P., Auluck, P. K., Marenco, S., Lewis, D. A., et al. (2024) · Science · doi:10.1126/science.adh4265 · Cited by 48
Self-citationGenetics of age-at-onset in major depression
Harder, A., Nguyen, T.-D., Pasman, J. A., Mosing, M. A., Hägg, S., & Lu, Y. (2022) · Translational Psychiatry · doi:10.1038/s41398-022-01888-z · Cited by 50
“PRS for MD (PRSMD), schizophrenia (PRSSCZ), and bipolar disorder (PRSBP) were derived using MD GWAS summary statistics excluding UKB [12] and the largest publicly available summary statistics for schizophrenia and bipolar disorder [27, 28].”
MethodRajagopal, V. M., Ganna, A., Coleman, J. R. I., Allegrini, A. G., Voloudakis, G., Grove, J., Als, T. D., Horsdal, H. T., Petersen, L. V., Appadurai, V., et al. (2023) · Scientific Reports · doi:10.1038/s41598-022-26845-0 · Cited by 36
Self-citationCheng, W., Parker, N., Karadag, N., Koch, E. M., Hindley, G., Icick, R., Shadrin, A. A., O’Connell, K. S., Bjella, T. D., Bahrami, S., et al. (2023) · The Lancet Psychiatry · doi:10.1016/s2215-0366(23)00143-8 · Cited by 55
Self-citationIob, E., Pingault, J., Munafo, M. R., Stubbs, B., Gilthorpe, M. S., Maihofer, A. X., & Danese, A. (2023) · Molecular Psychiatry · doi:10.1038/s41380-023-02133-9 · Cited by 53
“, bipolar disorder [32] ( N ~ 413,000), schizophrenia [33] ( N ~ 306,000), anorexia nervosa [34] ( N ~ 69,000), ADHD [35] ( N ~ 55,000), autism [36] ( N ~ 46,000), alcohol dependence [37] ( N ~ 47,000), and cannabis use disorder [38] ( N ~ 374,000) were obtained from the Psychiatric Genomics…”
Self-citationGenomics of schizophrenia, bipolar disorder and major depressive disorder
Owen, M. J., Bray, N. J., Walters, J., & O’Donovan, M. C. (2025) · Nature Reviews Genetics · doi:10.1038/s41576-025-00843-0 · Cited by 44
“…show the largest studies of cases described as meeting clinical diagnostic criteria for major depressive disorder (MDD) 146 and bipolar disorder 29 , demonstrating the relatively low yield of associations per clinically defined case, particularly for depression, which has motivated the…”
InfluentialSelf-citationHow Real-World Data Can Facilitate the Development of Precision Medicine Treatment in Psychiatry
Koch, E. M., Pardiñas, A. F., O’Connell, K. S., Selvaggi, P., Camacho-Collados, J., Babić, A., Marshall, S., der Eycken, E. V., Angulo, C., Lu, Y., et al. (2024) · Biological Psychiatry · doi:10.1016/j.biopsych.2024.01.001 · Cited by 48
Self-citationXiao, L., Liu, S., Wu, Y., Huang, Y., Tao, S., Liu, Y., Tang, Y., Xie, M., Ma, Q., Yin, Y., et al. (2023) · Brain Behavior and Immunity · doi:10.1016/j.bbi.2023.08.003 · Cited by 46
Goes, F. S., Collado‐Torres, L., Zandi, P. P., Huuki-Myers, L. A., Tao, R., Jaffe, A. E., Pertea, G. M., Shin, J. H., Weinberger, D. R., Kleinman, J. E., et al. (2025) · Nature Communications · doi:10.1038/s41467-025-59115-4 · Cited by 40
Self-citationHarrison, P. J., Husain, S. M., Lee, H., Angeles, A. D. L., Colbourne, L., Mould, A. W., Hall, N., Haerty, W., & Tunbridge, E. M. (2022) · Neuropharmacology · doi:10.1016/j.neuropharm.2022.109262 · Cited by 45
Self-citationShared genetic architecture and bidirectional clinical risks within the psycho-metabolic nexus
Guo, X., Feng, Y., Ji, X., Jia, N., Maimaiti, A., Lai, J., Wang, Z., Yang, S., & Hu, S. (2024) · EBioMedicine · doi:10.1016/j.ebiom.2024.105530 · Cited by 31
Psychosis superspectrum I: Nosology, etiology, and lifespan development
Jonas, K. G., Cannon, T. D., Docherty, A. R., Dwyer, D., Gur, R. C., Gur, R. E., Nelson, B., Reininghaus, U., & Kotov, R. (2024) · Molecular Psychiatry · doi:10.1038/s41380-023-02388-2 · Cited by 45
“The lack of a genetic correlation between bipolar disorder and intelligence (r g = -0.09) [79] likely re fl ects that the association between detachment and cognition is stronger than that linking psychoticism and cognition, discussed above.”
InfluentialYamamoto, H., Lee, H., Ikeda, M., Nakamura, T., Saito, T., Takata, A., Yokomizo, T., Iwata, N., Kato, T., & Kasahara, T. (2023) · Molecular Psychiatry · doi:10.1038/s41380-023-01988-2 · Cited by 43
Self-citationAlbiñana, C., Zhu, Z., Borbye‐Lorenzen, N., Boelt, S. G., Cohen, A. S., Skogstrand, K., Wray, N. R., Revez, J. A., Privé, F., Petersen, L. V., et al. (2023) · Nature Communications · doi:10.1038/s41467-023-36392-5 · Cited by 35
“All the relevant GWAS summary statistics are publicly available (schizophrenia 101 , major depression 102 , bipolar disorder 103 , autism spectrum disorder 104 , attention de fi cit hyperactivity disorder 105 , Alz-heimer ’ s disease 106 , educational attainment 107 , multiple sclerosis 108 ,…”
Self-citationGrotzinger, A. D., Mallard, T. T., Liu, Z., Seidlitz, J., Ge, T., & Smoller, J. W. (2023) · Nature Communications · doi:10.1038/s41467-023-36605-x · Cited by 35
Self-citationThe Psychiatric Genomics Consortium: Discoveries and Directions
Arpana Agrawal, A., Bulik, C. M., Abebe, D., Andreassen, O. A., Atkinson, E. G., Choi, K. W., Corvin, A. P., Davies, H. L., Davis, L. K., Docherty, A. R., et al. (2025) · The Lancet Psychiatry · doi:10.1016/s2215-0366(25)00124-5 · Cited by 40
Self-citationWainberg, M., Jacobs, G. R., Voineskos, A. N., & Tripathy, S. J. (2022) · Molecular Psychiatry · doi:10.1038/s41380-022-01522-w · Cited by 41
“edu/pgc/download-results) for major depression [29], bipolar disorder [30], schizophrenia [31], attention deficit hyperactivity disorder (ADHD) [32] and anorexia nervosa [33].”
BackgroundCausal influences of neuropsychiatric disorders on Alzheimer’s disease
Baranova, A. V., Zhao, Q., Cao, H., Chandhoke, V., & Zhang, F. (2024) · Translational Psychiatry · doi:10.1038/s41398-024-02822-1 · Cited by 36
“…alcohol dependence [16], amyotrophic lateral sclerosis (ALS) [17], anorexia nervosa [18], anxiety disorder [19], autism spectrum disorder [20], BD [21], epilepsy [22], insomnia [23], major depressive disorder (MDD) [24], migraine [25], multiple sclerosis (MS) [26], obsessive-compulsive disorder…”
Background
Metadata
- Authors
- Mullins, N., Forstner, A. J., O’Connell, K. S., Coombes, B., Coleman, J. R. I., Qiao, Z., Als, T. D., Bigdeli, T. B., Børte, S., Bryois, J., Charney, A. W., Drange, O. K., Gandal, M. J., Hagenaars, S. P., Ikeda, M., Kamitaki, N., Kim, M., Krebs, K., Panagiotaropoulou, G., Schilder, B. M., Sloofman, L. G., Steinberg, S., Trubetskoy, V., Winsvold, B. S., Won, H.-H., Abramova, L., Adorjan, K., Agerbo, E., Al Eissa, M., Albani, D., Alliey-Rodriguez, N., Anjorin, A., Antilla, V., Antoniou, A., Awasthi, S., Baek, J. H., Bækvad-Hansen, M., Bass, N., Bauer, M., Beins, E. C., Bergen, S. E., Birner, A., Bøcker Pedersen, C., Bøen, E., Boks, M. P., Bosch, R., Brum, M., Brumpton, B. M., Brunkhorst-Kanaan, N., Budde, M., Bybjerg-Grauholm, J., Byerley, W., Cairns, M., Casas, M., Cervantes, P., Clarke, T.-K., Cruceanu, C., Cuellar-Barboza, A., Cunningham, J., Curtis, D., Czerski, P. M., Dale, A. M., Dalkner, N., David, F. S., Degenhardt, F., Djurovic, S., Dobbyn, A. L., Douzenis, A., Elvsåshagen, T., Escott-Price, V., Ferrier, I. N., Fiorentino, A., Foroud, T. M., Forty, L., Frank, J., Frei, O., Freimer, N. B., Frisén, L., Gade, K., Garnham, J., Gelernter, J., Giørtz Pedersen, M., Gizer, I. R., Gordon, S. D., Gordon-Smith, K., Greenwood, T. A., Grove, J., Guzman-Parra, J., Ha, K., Haraldsson, M., Hautzinger, M., Heilbronner, U., Hellgren, D., Herms, S., Hoffmann, P., Holmans, P. A., Huckins, L., Jamain, S., Johnson, J. S., Kalman, J. L., Kamatani, Y., Kennedy, J. L., Kittel-Schneider, S., Knowles, J. A., Kogevinas, M., Koromina, M., Kranz, T. M., Kranzler, H. R., Kubo, M., Kupka, R., Kushner, S. A., Lavebratt, C., Lawrence, J., Leber, M., Lee, H.-J., Lee, P. H., Levy, S. E., Lewis, C., Liao, C., Lucae, S., Lundberg, M., MacIntyre, D. J., Magnusson, S. H., Maier, W., Maihofer, A., Malaspina, D., Maratou, E., Martinsson, L., Mattheisen, M., McCarroll, S. A., McGregor, N. W., McGuffin, P., McKay, J. D., Medeiros, H., Medland, S. E., Millischer, V., Montgomery, G. W., Moran, J. L., Morris, D. W., Mühleisen, T. W., O’Brien, N., O’Donovan, C., Olde Loohuis, L. M., Oruc, L., Papiol, S., Pardiñas, A. F., Perry, A., Pfennig, A., Porichi, E., Potash, J. B., Quested, D., Raj, T., Rapaport, M. H., DePaulo, J. R., Regeer, E. J., Rice, J. P., Rivas, F., Rivera, M., Roth, J., Roussos, P., Ruderfer, D. M., Sánchez-Mora, C., Schulte, E. C., Senner, F., Sharp, S., Shilling, P. D., Sigurdsson, E., Sirignano, L., Slaney, C., Smeland, O. B., Smith, D. J., Sobell, J. L., Søholm Hansen, C., Soler Artigas, M., Spijker, A. T., Stein, D. J., Strauss, J. S., Świątkowska, B., Terao, C., Thorgeirsson, T. E., Toma, C., Tooney, P., Tsermpini, E.-E., Vawter, M. P., Vedder, H., Walters, J. T. R., Witt, S. H., Xi, S., Xu, W., Yang, J. M. K., Young, A. H., Young, H., Zandi, P. P., Zhou, H., Zillich, L., Psychiatry, H. A.-I., Adolfsson, R., Agartz, I., Alda, M., Alfredsson, L., Babadjanova, G., Backlund, L., Baune, B. T., Bellivier, F., Bengesser, S., Berrettini, W. H., Blackwood, D. H. R., Boehnke, M., Børglum, A. D., Breen, G., Carr, V. J., Catts, S., Corvin, A., Craddock, N., Dannlowski, U., Dikeos, D., Esko, T., Etain, B., Ferentinos, P., Frye, M., Fullerton, J. M., Gawlik, M., Gershon, E. S., Goes, F. S., Green, M. J., Grigoroiu-Serbanescu, M., Hauser, J., Henskens, F., Hillert, J., Hong, K. S., Hougaard, D. M., Hultman, C. M., Hveem, K., Iwata, N., Jablensky, A. V., Jones, I., Jones, L. A., Kahn, R. S., Kelsoe, J. R., Kirov, G., Landén, M., Leboyer, M., Lewis, C. M., Li, Q. S., Lissowska, J., Lochner, C., Loughland, C., Martin, N. G., Mathews, C. A., Mayoral, F., McElroy, S. L., McIntosh, A. M., McMahon, F. J., Melle, I., Michie, P., Milani, L., Mitchell, P. B., Morken, G., Mors, O., Mortensen, P. B., Mowry, B., Müller-Myhsok, B., Myers, R. M., Neale, B. M., Nievergelt, C. M., Nordentoft, M., Nöthen, M. M., O’Donovan, M. C., Oedegaard, K. J., Olsson, T., Owen, M. J., Paciga, S. A., Pantelis, C., Pato, C., Pato, M. T., Patrinos, G. P., Perlis, R. H., Posthuma, D., Ramos-Quiroga, J. A., Reif, A., Reininghaus, E. Z., Ribasés, M., Rietschel, M., Ripke, S., Rouleau, G. A., Saito, T., Schall, U., Schalling, M., Schofield, P. R., Schulze, T. G., Scott, L. J., Scott, R. J., Serretti, A., Shannon Weickert, C., Smoller, J. W., Stefansson, H., Stefansson, K., Stordal, E., Streit, F., Sullivan, P. F., Turecki, G., Vaaler, A. E., Vieta, E., Vincent, J. B., Waldman, I. D., Weickert, T. W., Werge, T., Wray, N. R., Zwart, J.-A., Biernacka, J. M., Nurnberger, J. I., Cichon, S., Edenberg, H. J., Stahl, E. A., McQuillin, A., Di Florio, A., Ophoff, R. A., & Andreassen, O. A.
- Affiliations
- Icahn School of Medicine at Mount Sinai (US)
- University of Bonn (DE)
- Oslo University Hospital (NO)
- Mayo Clinic (US)
- King's College London (GB)
- The University of Queensland (AU)
- Aarhus University (DK)
- SUNY Downstate Health Sciences University (US)
- Karolinska Institutet (SE)
- Norwegian University of Science and Technology (NO)
- University of California, Los Angeles (US)
- Fujita Health University (JP)
- Broad Institute (US)
- University of Tartu (EE)
- Stiftung Charité (DE)
- deCODE Genetics (Iceland) (IS)
- Samsung (South Korea) (KR)
- Mental Health Research Center of Russian Academy of Medical Sciences (RU)
- Institut für Psychiatrische Phänomik und Genomik (DE)
- Mario Negri Institute for Pharmacological Research (IT)
- Berkshire Healthcare NHS Foundation Trust (GB)
- National and Kapodistrian University of Athens (GR)
- Samsung Medical Center (KR)
- University College London (GB)
- University Hospital Carl Gustav Carus (DE)
- Medical University of Graz (AT)
- Diakonhjemmet Hospital (NO)
- University Medical Center Utrecht (NL)
- Universitat Autònoma de Barcelona (ES)
- University Hospital Frankfurt (DE)
- University of California, San Francisco (US)
- University of Newcastle Australia (AU)
- McGill University Health Centre (CA)
- University of Edinburgh (GB)
- Queen Mary University of London (GB)
- Poznan University of Medical Sciences (PL)
- University of California San Diego (US)
- Newcastle University (GB)
- Indiana University Indianapolis (US)
- Cardiff University (GB)
- Heidelberg University (DE)
- Universitätsmedizin Göttingen (DE)
- Dalhousie University (CA)
- Yale University (US)
- University of Missouri (US)
- QIMR Berghofer Medical Research Institute (AU)
- Seoul National University (KR)
- National University Hospital of Iceland (IS)
- University of Tübingen (DE)
- Inserm (FR)
- RIKEN Center for Integrative Medical Sciences (JP)
- Centre for Addiction and Mental Health (CA)
- Barcelona Institute for Global Health (ES)
- University of Patras (GR)
- Philadelphia VA Medical Center (US)
- GGZ inGeest (NL)
- Erasmus MC (NL)
- Karolinska University Hospital (SE)
- North East London NHS Foundation Trust (GB)
- University Hospital Cologne (DE)
- Korea University (KR)
- Harvard University (US)
- HudsonAlpha Institute for Biotechnology (US)
- Montreal Neurological Institute and Hospital (CA)
- Max Planck Institute of Psychiatry (DE)
- Stellenbosch University (ZA)
- Centre international de recherche sur le cancer (FR)
- Ollscoil na Gaillimhe – University of Galway (IE)
- Forschungszentrum Jülich (DE)
- University of Worcester (GB)
- Johns Hopkins University (US)
- Oxford Health NHS Foundation Trust (GB)
- Emory University (US)
- Washington University in St. Louis (US)
- Instituto de Investigación Biomédica de Málaga (ES)
- Universidad de Granada (ES)
- Universitätsklinikum Würzburg (DE)
- Vanderbilt University Medical Center (US)
- University of Southern California (US)
- PsyQ (NL)
- South African Medical Research Council (ZA)
- Nofer Institute of Occupational Medicine (PL)
- University of California, Irvine (US)
- University of Toronto (CA)
- National Health Service (GB)
- Umeå University (SE)
- University of Pennsylvania (US)
- University of Michigan (US)
- Trinity College Dublin (IE)
- UNSW Sydney (AU)
- University of Chicago (US)
- Statens Serum Institut (DK)
- The University of Western Australia (AU)
- The Maria Sklodowska-Curie National Research Institute of Oncology (PL)
- University of Florida (US)
- Lindner Center of HOPE (US)
- National Institute of Mental Health (US)
- University of Oslo (NO)
- Massachusetts General Hospital (US)
- University of Copenhagen (DK)
- Haukeland University Hospital (NO)
- Pfizer (United States) (US)
- The University of Melbourne (AU)
- Neuroscience Research Australia (AU)
- University of North Carolina at Chapel Hill (US)
- St Olav's University Hospital (NO)
- Centro de Investigación Biomédica en Red de Salud Mental (ES)
- SUNY Upstate Medical University (US)
- Corresponding author
- Mullins, Niamh
- Andreassen, Ole A.
- ORCID
- Mullins, Niamh
- Forstner, Andreas J.
- O’Connell, Kevin S.
- Coombes, Brandon
- Coleman, Jonathan R. I.
- Qiao, Zhen
- Als, Thomas D.
- Bigdeli, Tim B.
- Børte, Sigrid
- Bryois, Julien
- Charney, Alexander W.
- Drange, Ole Kristian
- Gandal, Michael J.
- Hagenaars, Saskia P.
- Ikeda, Masashi
- Kamitaki, Nolan
- Kim, Minsoo
- Krebs, Kristi
- Panagiotaropoulou, Georgia
- Schilder, Brian M.
- Sloofman, Laura G.
- Steinberg, Stacy
- Trubetskoy, Vassily
- Winsvold, Bendik S.
- Won, Hong-Hee
- Adorjan, Kristina
- Agerbo, Esben
- Albani, Diego
- Antoniou, Anastasia
- Awasthi, Swapnil
- Baek, Ji Hyun
- Bass, Nicholas
- Bauer, Michael
- Beins, Eva C.
- Bergen, Sarah E.
- Birner, Armin
- Bøen, Erlend
- Boks, Marco P.
- Bosch, Rosa
- Brumpton, Ben M.
- Budde, Monika
- Byerley, William
- Cairns, Murray
- Cervantes, Pablo
- Clarke, Toni-Kim
- Cruceanu, Cristiana
- Cunningham, Julie
- Curtis, David
- Czerski, Piotr M.
- Dale, Anders M.
- Dalkner, Nina
- David, Friederike S.
- Degenhardt, Franziska
- Djurovic, Srdjan
- Dobbyn, Amanda L.
- Elvsåshagen, Torbjørn
- Ferrier, I. Nicol
- Fiorentino, Alessia
- Foroud, Tatiana M.
- Forty, Liz
- Frank, Josef
- Frei, Oleksandr
- Freimer, Nelson B.
- Frisén, Louise
- Gade, Katrin
- Garnham, Julie
- Gelernter, Joel
- Gizer, Ian R.
- Gordon, Scott D.
- Greenwood, Tiffany A.
- Grove, Jakob
- Ha, Kyooseob
- Haraldsson, Magnus
- Hautzinger, Martin
- Heilbronner, Urs
- Herms, Stefan
- Hoffmann, Per
- Holmans, Peter A.
- Huckins, Laura
- Jamain, Stéphane
- Johnson, Jessica S.
- Kalman, Janos L.
- Kennedy, James L.
- Knowles, James A.
- Kogevinas, Manolis
- Koromina, Maria
- Kranz, Thorsten M.
- Kranzler, Henry R.
- Kubo, Michiaki
- Kupka, Ralph
- Kushner, Steven A.
- Lavebratt, Catharina
- Lawrence, Jacob
- Leber, Markus
- Lee, Heon-Jeong
- Lee, Phil H.
- Levy, Shawn E.
- Liao, Calwing
- Lucae, Susanne
- MacIntyre, Donald J.
- Maihofer, Adam
- Malaspina, Dolores
- Maratou, Eirini
- Martinsson, Lina
- Mattheisen, Manuel
- McCarroll, Steven A.
- McGregor, Nathaniel W.
- McKay, James D.
- Medeiros, Helena
- Medland, Sarah E.
- Millischer, Vincent
- Montgomery, Grant W.
- Moran, Jennifer L.
- Morris, Derek W.
- Mühleisen, Thomas W.
- O’Brien, Niamh
- O’Donovan, Claire
- Papiol, Sergi
- Pardiñas, Antonio F.
- Perry, Amy
- Pfennig, Andrea
- Potash, James B.
- Quested, Digby
- Raj, Towfique
- Rapaport, Mark H.
- DePaulo, J. Raymond
- Regeer, Eline J.
- Rice, John P.
- Rivera, Margarita
- Roth, Julian
- Roussos, Panos
- Ruderfer, Douglas M.
- Schulte, Eva C.
- Senner, Fanny
- Sharp, Sally
- Shilling, Paul D.
- Sirignano, Lea
- Slaney, Claire
- Smeland, Olav B.
- Sobell, Janet L.
- Stein, Dan J.
- Świątkowska, Beata
- Terao, Chikashi
- Thorgeirsson, Thorgeir E.
- Tooney, Paul
- Tsermpini, Evangelia-Eirini
- Vawter, Marquis P.
- Vedder, Helmut
- Walters, James T. R.
- Witt, Stephanie H.
- Xu, Wei
- Yang, Jessica Mei Kay
- Young, Allan H.
- Young, Hannah
- Zandi, Peter P.
- Zhou, Hang
- Zillich, Lea
- Adolfsson, Rolf
- Agartz, Ingrid
- Alda, Martin
- Alfredsson, Lars
- Backlund, Lena
- Baune, Bernhard T.
- Bellivier, Frank
- Bengesser, Susanne
- Berrettini, Wade H.
- Blackwood, Douglas H. R.
- Boehnke, Michael
- Børglum, Anders D.
- Breen, Gerome
- Carr, Vaughan J.
- Catts, Stanley
- Corvin, Aiden
- Dannlowski, Udo
- Dikeos, Dimitris
- Esko, Tõnu
- Ferentinos, Panagiotis
- Frye, Mark
- Fullerton, Janice M.
- Gawlik, Micha
- Gershon, Elliot S.
- Goes, Fernando S.
- Green, Melissa J.
- Hauser, Joanna
- Hillert, Jan
- Hong, Kyung Sue
- Hougaard, David M.
- Hultman, Christina M.
- Hveem, Kristian
- Iwata, Nakao
- Jablensky, Assen V.
- Jones, Ian
- Jones, Lisa A.
- Kahn, René S.
- Kelsoe, John R.
- Kirov, George
- Landén, Mikael
- Leboyer, Marion
- Lewis, Cathryn M.
- Li, Qingqin S.
- Lissowska, Jolanta
- Loughland, Carmel
- Martin, Nicholas G.
- Mathews, Carol A.
- McElroy, Susan L.
- McIntosh, Andrew M.
- McMahon, Francis J.
- Melle, Ingrid
- Michie, Patricia
- Milani, Lili
- Mitchell, Philip B.
- Morken, Gunnar
- Mors, Ole
- Mortensen, Preben Bo
- Mowry, Bryan
- Myers, Richard M.
- Neale, Benjamin M.
- Nievergelt, Caroline M.
- Nordentoft, Merete
- Nöthen, Markus M.
- O’Donovan, Michael C.
- Oedegaard, Ketil J.
- Olsson, Tomas
- Owen, Michael J.
- Paciga, Sara A.
- Pato, Carlos
- Pato, Michele T.
- Patrinos, George P.
- Perlis, Roy H.
- Reif, Andreas
- Reininghaus, Eva Z.
- Ribasés, Marta
- Rietschel, Marcella
- Ripke, Stephan
- Rouleau, Guy A.
- Saito, Takeo
- Schall, Ulrich
- Schalling, Martin
- Schofield, Peter R.
- Schulze, Thomas G.
- Scott, Laura J.
- Scott, Rodney J.
- Serretti, Alessandro
- Smoller, Jordan W.
- Stordal, Eystein
- Streit, Fabian
- Sullivan, Patrick F.
- Turecki, Gustavo
- Vieta, Eduard
- Vincent, John B.
- Waldman, Irwin D.
- Weickert, Thomas W.
- Werge, Thomas
- Wray, Naomi R.
- Zwart, John-Anker
- Biernacka, Joanna M.
- Cichon, Sven
- Edenberg, Howard J.
- Stahl, Eli A.
- McQuillin, Andrew
- Ophoff, Roel A.
- Andreassen, Ole A.
- Venue
- Nature Genetics
- Published
- 2021-05-17
- Volume
- 53
- Issue
- 6
- Pages
- 817-829
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- PMC
- PMC8192451
- OpenAlex
- W3162259891
- Cited by
- 1,517
- References
- 129
- Citations by year
- 2026: 232 · 2025: 369 · 2024: 387 · 2023: 255 · 2022: 204 · 2021: 68
- FWCI
- 41.13
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- Nature Genetics (publishedVersion, other-oa)
- medRxiv (acceptedVersion, cc-by)
- PubMed (publishedVersion)
- Kölner Universitäts PublikationsServer (Universität zu Köln) (publishedVersion)
- Pure Amsterdam UMC (publishedVersion, cc-by)
- Research at the University of Copenhagen (University of Copenhagen) (publishedVersion, other-oa)
- Amsterdam UMC (VU Amsterdam) - Institutional Repository (publishedVersion, other-oa)
- EUR Research Repository (Erasmus University Rotterdam) (publishedVersion, other-oa)
- VU Research Portal (publishedVersion, other-oa)
- ENLIGHTEN (Jurnal Bimbingan dan Konseling Islam) (acceptedVersion, cc-by-sa)
- ORCA Online Research @Cardiff (Cardiff University) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Institutional Repository of the University of Granada (University of Granada) (acceptedVersion, cc-by-nc-nd)
- DIGITAL.CSIC (Spanish National Research Council (CSIC)) (acceptedVersion)
- IUScholarWorks (Indiana University) (submittedVersion, other-oa)
- ScholarWorks @ UTRGV (The University of Texas Rio Grande Valley) (submittedVersion, other-oa)
- Worcester Research and Publications (University of Worcester) (submittedVersion, other-oa)
- UWA Profiles and Research Repository (UWA) (submittedVersion, other-oa)
- EUR Research Repository (Erasmus University Rotterdam) (submittedVersion, other-oa)
- HAL (submittedVersion, other-oa)
- Archivio istituzionale della ricerca (Alma Mater Studiorum Università di Bologna) (submittedVersion)
- Utrecht University Repository (Utrecht University) (submittedVersion, other-oa)
- UCL Discovery (University College London) (submittedVersion)
- Open access LMU (Ludwid Maxmilian's Universitat Munchen) (submittedVersion)
- eScholarship (California Digital Library) (submittedVersion)
- Minerva Access (University of Melbourne) (submittedVersion)
- Hirsla (Landspítali University Hospital) (submittedVersion)
- Hirsla (Landspítali University Hospital) (submittedVersion, other-oa)
- NOVA (University of Newcastle Australia) (submittedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion, other-oa)
- Funders
- U.S. Department of Health & Human Services | NIH | National Institute of Mental Health (U01 MH109528, U01 MH094421, U01 MH085520)
- Topics
- Health Sciences › Medicine › Psychiatry and Mental health › Bipolar Disorder and Treatment
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Health Sciences › Medicine › Psychiatry and Mental health › Schizophrenia research and treatment
- Keywords
- bipolar disorder, genome-wide association study, genetic susceptibility loci, prefrontal cortex, hippocampus, expression quantitative trait loci, melanin-concentrating hormone receptor 1, furin, bipolar disorder subtypes, genetic correlation, drug repurposing, European ancestry
- MeSH terms
- Bipolar Disorder, Chromosomes, Human, Humans, Major Histocompatibility Complex, Phenotype, Risk Factors, Genome, Human, Case-Control Studies, Genetic Predisposition to Disease, Multifactorial Inheritance, Quantitative Trait Loci, Genome-Wide Association Study
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