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2. Focal adhesion is associated with lithium response in bipolar disorder: evidence from a network-based multi-omics analysis

Author

Niemsiri, Vipavee, Rosenthal, Sara Brin, Nievergelt, Caroline M, Maihofer, Adam X, Marchetto, Maria C, Santos, Renata, Shekhtman, Tatyana, Alliey-Rodriguez, Ney, Anand, Amit, Balaraman, Yokesh, Berrettini, Wade H, Bertram, Holli, Burdick, Katherine E, Calabrese, Joseph R, Calkin, Cynthia V, Conroy, Carla, Coryell, William H, DeModena, Anna, Eyler, Lisa T, Feeder, Scott, Fisher, Carrie, Frazier, Nicole, Frye, Mark A, Gao, Keming, Garnham, Julie, Gershon, Elliot S, Goes, Fernando S, Goto, Toyomi, Harrington, Gloria J, Jakobsen, Petter, Kamali, Masoud, Kelly, Marisa, Leckband, Susan G, Lohoff, Falk W, McCarthy, Michael J, McInnis, Melvin G, Craig, David, Millett, Caitlin E, Mondimore, Francis, Morken, Gunnar, Nurnberger, John I, Donovan, Claire O’, Øedegaard, Ketil J, Ryan, Kelly, Schinagle, Martha, Shilling, Paul D, Slaney, Claire, Stapp, Emma K, Stautland, Andrea, Tarwater, Bruce, Zandi, Peter P, Alda, Martin, Fisch, Kathleen M, Gage, Fred H, and Kelsoe, John R

Subjects
Biomedical and Clinical Sciences, Biological Psychology, Clinical and Health Psychology, Clinical Sciences, Psychology, Human Genome, Bipolar Disorder, Mental Health, Brain Disorders, Serious Mental Illness, Precision Medicine, Mental Illness, Genetics, Mental health, Humans, Lithium, Gene Regulatory Networks, Focal Adhesions, Transcriptome, Genome-Wide Association Study, Neurons, Induced Pluripotent Stem Cells, Pharmacogenetics, Antimanic Agents, Male, Female, Lithium Compounds, Gene Expression Profiling, Genomics, Multiomics, Biological Sciences, Medical and Health Sciences, Psychology and Cognitive Sciences, Psychiatry, Clinical sciences, Biological psychology, Clinical and health psychology
Abstract

Lithium (Li) is one of the most effective drugs for treating bipolar disorder (BD), however, there is presently no way to predict response to guide treatment. The aim of this study is to identify functional genes and pathways that distinguish BD Li responders (LR) from BD Li non-responders (NR). An initial Pharmacogenomics of Bipolar Disorder study (PGBD) GWAS of lithium response did not provide any significant results. As a result, we then employed network-based integrative analysis of transcriptomic and genomic data. In transcriptomic study of iPSC-derived neurons, 41 significantly differentially expressed (DE) genes were identified in LR vs NR regardless of lithium exposure. In the PGBD, post-GWAS gene prioritization using the GWA-boosting (GWAB) approach identified 1119 candidate genes. Following DE-derived network propagation, there was a highly significant overlap of genes between the top 500- and top 2000-proximal gene networks and the GWAB gene list (Phypergeometric = 1.28E-09 and 4.10E-18, respectively). Functional enrichment analyses of the top 500 proximal network genes identified focal adhesion and the extracellular matrix (ECM) as the most significant functions. Our findings suggest that the difference between LR and NR was a much greater effect than that of lithium. The direct impact of dysregulation of focal adhesion on axon guidance and neuronal circuits could underpin mechanisms of response to lithium, as well as underlying BD. It also highlights the power of integrative multi-omics analysis of transcriptomic and genomic profiling to gain molecular insights into lithium response in BD.

Published
2024

6. Cognition in older age bipolar disorder: An analysis of archival data across the globe

Author

Klaus, Federica, Ng, Hui Xin, Barbosa, Izabela G., Beunders, Alexandra, Briggs, Farren, Burdick, Katherine E., Dols, Annemieke, Forlenza, Orestes, Gildengers, Ariel, Millett, Caitlin, Mulsant, Benoit H., Orhan, Melis, Rajji, Tarek K., Rej, Soham, Sajatovic, Martha, Sarna, Kaylee, Schouws, Sigfried, Sutherland, Ashley, Teixeira, Antonio L., Yala, Joy A., and Eyler, Lisa T.

Published
2024
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8. Identifying nootropic drug targets via large-scale cognitive GWAS and transcriptomics.

Author

Lam, Max, Chen, Chia-Yen, Ge, Tian, Xia, Yan, Hill, David W, Trampush, Joey W, Yu, Jin, Knowles, Emma, Davies, Gail, Stahl, Eli A, Huckins, Laura, Liewald, David C, Djurovic, Srdjan, Melle, Ingrid, Christoforou, Andrea, Reinvang, Ivar, DeRosse, Pamela, Lundervold, Astri J, Steen, Vidar M, Espeseth, Thomas, Räikkönen, Katri, Widen, Elisabeth, Palotie, Aarno, Eriksson, Johan G, Giegling, Ina, Konte, Bettina, Hartmann, Annette M, Roussos, Panos, Giakoumaki, Stella, Burdick, Katherine E, Payton, Antony, Ollier, William, Chiba-Falek, Ornit, Koltai, Deborah C, Need, Anna C, Cirulli, Elizabeth T, Voineskos, Aristotle N, Stefanis, Nikos C, Avramopoulos, Dimitrios, Hatzimanolis, Alex, Smyrnis, Nikolaos, Bilder, Robert M, Freimer, Nelson B, Cannon, Tyrone D, London, Edythe, Poldrack, Russell A, Sabb, Fred W, Congdon, Eliza, Conley, Emily Drabant, Scult, Matthew A, Dickinson, Dwight, Straub, Richard E, Donohoe, Gary, Morris, Derek, Corvin, Aiden, Gill, Michael, Hariri, Ahmad R, Weinberger, Daniel R, Pendleton, Neil, Bitsios, Panos, Rujescu, Dan, Lahti, Jari, Le Hellard, Stephanie, Keller, Matthew C, Andreassen, Ole A, Deary, Ian J, Glahn, David C, Huang, Hailiang, Liu, Chunyu, Malhotra, Anil K, and Lencz, Todd

Subjects
Humans, Nootropic Agents, Cognition, Schizophrenia, Genome-Wide Association Study, Transcriptome, Psychiatry, Medical and Health Sciences, Psychology and Cognitive Sciences
Abstract

Broad-based cognitive deficits are an enduring and disabling symptom for many patients with severe mental illness, and these impairments are inadequately addressed by current medications. While novel drug targets for schizophrenia and depression have emerged from recent large-scale genome-wide association studies (GWAS) of these psychiatric disorders, GWAS of general cognitive ability can suggest potential targets for nootropic drug repurposing. Here, we (1) meta-analyze results from two recent cognitive GWAS to further enhance power for locus discovery; (2) employ several complementary transcriptomic methods to identify genes in these loci that are credibly associated with cognition; and (3) further annotate the resulting genes using multiple chemoinformatic databases to identify "druggable" targets. Using our meta-analytic data set (N = 373,617), we identified 241 independent cognition-associated loci (29 novel), and 76 genes were identified by 2 or more methods of gene identification. Actin and chromatin binding gene sets were identified as novel pathways that could be targeted via drug repurposing. Leveraging our transcriptomic and chemoinformatic databases, we identified 16 putative genes targeted by existing drugs potentially available for cognitive repurposing.

Published
2021

9. Schizophrenia risk conferred by rare protein-truncating variants is conserved across diverse human populations

Author

Liu, Dongjing, Meyer, Dara, Fennessy, Brian, Feng, Claudia, Cheng, Esther, Johnson, Jessica S., Park, You Jeong, Rieder, Marysia-Kolbe, Ascolillo, Steven, de Pins, Agathe, Dobbyn, Amanda, Lebovitch, Dannielle, Moya, Emily, Nguyen, Tan-Hoang, Wilkins, Lillian, Hassan, Arsalan, Burdick, Katherine E., Buxbaum, Joseph D., Domenici, Enrico, Frangou, Sophia, Hartmann, Annette M., Laurent-Levinson, Claudine, Malhotra, Dheeraj, Pato, Carlos N., Pato, Michele T., Ressler, Kerry, Roussos, Panos, Rujescu, Dan, Arango, Celso, Bertolino, Alessandro, Blasi, Giuseppe, Bocchio-Chiavetto, Luisella, Campion, Dominique, Carr, Vaughan, Fullerton, Janice M., Gennarelli, Massimo, González-Peñas, Javier, Levinson, Douglas F., Mowry, Bryan, Nimgaokar, Vishwajit L., Pergola, Giulio, Rampino, Antonio, Cervilla, Jorge A., Rivera, Margarita, Schwab, Sibylle G., Wildenauer, Dieter B., Daly, Mark, Neale, Benjamin, Singh, Tarjinder, O’Donovan, Michael C., Owen, Michael J., Walters, James T., Ayub, Muhammad, Malhotra, Anil K., Lencz, Todd, Sullivan, Patrick F., Sklar, Pamela, Stahl, Eli A., Huckins, Laura M., and Charney, Alexander W.

Published
2023
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11. Macro and micro sleep architecture and cognitive performance in older adults

Author

Djonlagic, Ina, Mariani, Sara, Fitzpatrick, Annette L, Van Der Klei, Veerle MGTH, Johnson, Dayna A, Wood, Alexis C, Seeman, Teresa, Nguyen, Ha T, Prerau, Michael J, Luchsinger, José A, Dzierzewski, Joseph M, Rapp, Stephen R, Tranah, Gregory J, Yaffe, Kristine, Burdick, Katherine E, Stone, Katie L, Redline, Susan, and Purcell, Shaun M

Subjects
Biological Psychology, Psychology, Aging, Basic Behavioral and Social Science, Behavioral and Social Science, Clinical Research, Sleep Research, 2.1 Biological and endogenous factors, Age Factors, Aged, Aged, 80 and over, Case-Control Studies, Cognition, Electroencephalography, Humans, Male, Metabolic Syndrome, Middle Aged, Sleep, Sleep, REM, Biomedical and clinical sciences, Health sciences
Abstract

We sought to determine which facets of sleep neurophysiology were most strongly linked to cognitive performance in 3,819 older adults from two independent cohorts, using whole-night electroencephalography. From over 150 objective sleep metrics, we identified 23 that predicted cognitive performance, and processing speed in particular, with effects that were broadly independent of gross changes in sleep quality and quantity. These metrics included rapid eye movement duration, features of the electroencephalography power spectra derived from multivariate analysis, and spindle and slow oscillation morphology and coupling. These metrics were further embedded within broader associative networks linking sleep with aging and cardiometabolic disease: individuals who, compared with similarly aged peers, had better cognitive performance tended to have profiles of sleep metrics more often seen in younger, healthier individuals. Taken together, our results point to multiple facets of sleep neurophysiology that track coherently with underlying, age-dependent determinants of cognitive and physical health trajectories in older adults.

Published
2021

13. The association between lithium use and neurocognitive performance in patients with bipolar disorder

Author

Burdick, Katherine E, Millett, Caitlin E, Russo, Manuela, Alda, Martin, Alliey-Rodriguez, Ney, Anand, Amit, Balaraman, Yokesh, Berrettini, Wade, Bertram, Holli, Calabrese, Joseph R, Calkin, Cynthia, Conroy, Carla, Coryell, William, DeModena, Anna, Feeder, Scott, Fisher, Carrie, Frazier, Nicole, Frye, Mark, Gao, Keming, Garnham, Julie, Gershon, Elliot S, Glazer, Kara, Goes, Fernando S, Goto, Toyomi, Harrington, Gloria J, Jakobsen, Petter, Kamali, Masoud, Kelly, Marisa, Leckband, Susan, Løberg, Else Marie, Lohoff, Falk W, Maihofer, Adam X, McCarthy, Michael J, McInnis, Melvin, Morken, Gunnar, Nievergelt, Caroline M, Nurnberger, John, Oedegaard, Ketil J, Ortiz, Abigail, Ritchey, Megan, Ryan, Kelly, Schinagle, Martha, Schwebel, Candice, Shaw, Martha, Shilling, Paul, Slaney, Claire, Stapp, Emma, Tarwater, Bruce, Zandi, Peter, and Kelsoe, John R

Subjects
Biological Psychology, Biomedical and Clinical Sciences, Psychology, Mental Health, Serious Mental Illness, Brain Disorders, Behavioral and Social Science, Clinical Research, Bipolar Disorder, Clinical Trials and Supportive Activities, Mental health, Cognition, Cross-Sectional Studies, Humans, Lithium, Neuropsychological Tests, Medical and Health Sciences, Psychology and Cognitive Sciences, Psychiatry, Neurosciences, Biological psychology
Abstract

Lithium remains the gold standard for the treatment of bipolar disorder (BD); however, its use has declined over the years mainly due to the side effects and the subjective experience of cognitive numbness reported by patients. In the present study, we aim to methodically test the effects of lithium on neurocognitive functioning in the largest single cohort (n = 262) of BD patients reported to date by harnessing the power of a multi-site, ongoing clinical trial of lithium monotherapy. At the cross-sectional level, multivariate analysis of covariance (MANCOVA) was conducted to examine potential group differences across neurocognitive tests [California Verbal Learning Test (CVLT trials 1-5,CVLT delayed recall), Wechsler Digit Symbol, Trail-making Test parts A and B (TMT-A; TMT-B), and a global cognition index]. At the longitudinal level, on a subset of patients (n = 88) who achieved mood stabilization with lithium monotherapy, we explored the effect of lithium treatment across time on neurocognitive functioning. There were no differences at baseline between BD patients that were taking lithium compared with those that were not. At follow-up a significant neurocognitive improvement in the global cognitive index score [F = 31.69; p

Published
2020

14. Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways.

Author

Lam, Max, Hill, W David, Trampush, Joey W, Yu, Jin, Knowles, Emma, Davies, Gail, Stahl, Eli, Huckins, Laura, Liewald, David C, Djurovic, Srdjan, Melle, Ingrid, Sundet, Kjetil, Christoforou, Andrea, Reinvang, Ivar, DeRosse, Pamela, Lundervold, Astri J, Steen, Vidar M, Espeseth, Thomas, Räikkönen, Katri, Widen, Elisabeth, Palotie, Aarno, Eriksson, Johan G, Giegling, Ina, Konte, Bettina, Hartmann, Annette M, Roussos, Panos, Giakoumaki, Stella, Burdick, Katherine E, Payton, Antony, Ollier, William, Chiba-Falek, Ornit, Attix, Deborah K, Need, Anna C, Cirulli, Elizabeth T, Voineskos, Aristotle N, Stefanis, Nikos C, Avramopoulos, Dimitrios, Hatzimanolis, Alex, Arking, Dan E, Smyrnis, Nikolaos, Bilder, Robert M, Freimer, Nelson A, Cannon, Tyrone D, London, Edythe, Poldrack, Russell A, Sabb, Fred W, Congdon, Eliza, Conley, Emily Drabant, Scult, Matthew A, Dickinson, Dwight, Straub, Richard E, Donohoe, Gary, Morris, Derek, Corvin, Aiden, Gill, Michael, Hariri, Ahmad R, Weinberger, Daniel R, Pendleton, Neil, Bitsios, Panos, Rujescu, Dan, Lahti, Jari, Le Hellard, Stephanie, Keller, Matthew C, Andreassen, Ole A, Deary, Ian J, Glahn, David C, Malhotra, Anil K, and Lencz, Todd

Subjects
Humans, Genetic Predisposition to Disease, Cognition, Cognition Disorders, Schizophrenia, Synaptic Transmission, Polymorphism, Single Nucleotide, Adult, Educational Status, Genome-Wide Association Study, Neurodevelopmental Disorders, GWAS, cognitive ability, educational attainment, genetic correlation, pathways, pleiotropy, schizophrenia, Serious Mental Illness, Neurosciences, Biotechnology, Mental Health, Genetics, Brain Disorders, Prevention, Human Genome, 2.1 Biological and endogenous factors, Aetiology, Mental health, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
Abstract

Susceptibility to schizophrenia is inversely correlated with general cognitive ability at both the phenotypic and the genetic level. Paradoxically, a modest but consistent positive genetic correlation has been reported between schizophrenia and educational attainment, despite the strong positive genetic correlation between cognitive ability and educational attainment. Here we leverage published genome-wide association studies (GWASs) in cognitive ability, education, and schizophrenia to parse biological mechanisms underlying these results. Association analysis based on subsets (ASSET), a pleiotropic meta-analytic technique, allowed jointly associated loci to be identified and characterized. Specifically, we identified subsets of variants associated in the expected ("concordant") direction across all three phenotypes (i.e., greater risk for schizophrenia, lower cognitive ability, and lower educational attainment); these were contrasted with variants that demonstrated the counterintuitive ("discordant") relationship between education and schizophrenia (i.e., greater risk for schizophrenia and higher educational attainment). ASSET analysis revealed 235 independent loci associated with cognitive ability, education, and/or schizophrenia at p < 5 × 10-8. Pleiotropic analysis successfully identified more than 100 loci that were not significant in the input GWASs. Many of these have been validated by larger, more recent single-phenotype GWASs. Leveraging the joint genetic correlations of cognitive ability, education, and schizophrenia, we were able to dissociate two distinct biological mechanisms-early neurodevelopmental pathways that characterize concordant allelic variation and adulthood synaptic pruning pathways-that were linked to the paradoxical positive genetic association between education and schizophrenia. Furthermore, genetic correlation analyses revealed that these mechanisms contribute not only to the etiopathogenesis of schizophrenia but also to the broader biological dimensions implicated in both general health outcomes and psychiatric illness.

Published
2019

15. Contribution of Rare Copy Number Variants to Bipolar Disorder Risk Is Limited to Schizoaffective Cases

Author

Charney, Alexander W, Stahl, Eli A, Green, Elaine K, Chen, Chia-Yen, Moran, Jennifer L, Chambert, Kimberly, Belliveau, Richard A, Forty, Liz, Gordon-Smith, Katherine, Lee, Phil H, Bromet, Evelyn J, Buckley, Peter F, Escamilla, Michael A, Fanous, Ayman H, Fochtmann, Laura J, Lehrer, Douglas S, Malaspina, Dolores, Marder, Stephen R, Morley, Christopher P, Nicolini, Humberto, Perkins, Diana O, Rakofsky, Jeffrey J, Rapaport, Mark H, Medeiros, Helena, Sobell, Janet L, Backlund, Lena, Bergen, Sarah E, Juréus, Anders, Schalling, Martin, Lichtenstein, Paul, Knowles, James A, Burdick, Katherine E, Jones, Ian, Jones, Lisa A, Hultman, Christina M, Perlis, Roy, Purcell, Shaun M, McCarroll, Steven A, Pato, Carlos N, Pato, Michele T, Di Florio, Ariana, Craddock, Nick, Landén, Mikael, Smoller, Jordan W, Ruderfer, Douglas M, and Sklar, Pamela

Subjects
Pharmacology and Pharmaceutical Sciences, Biomedical and Clinical Sciences, Genetics, Serious Mental Illness, Bipolar Disorder, Mental Health, Prevention, Brain Disorders, Schizophrenia, 2.1 Biological and endogenous factors, Aetiology, Mental health, Good Health and Well Being, Case-Control Studies, Cohort Studies, DNA Copy Number Variations, Gene Duplication, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Multifactorial Inheritance, Psychotic Disorders, Bipolar disorder, Copy number variant, Polygenic risk score, Rare variant burden, Biological Sciences, Medical and Health Sciences, Psychology and Cognitive Sciences, Psychiatry, Biological sciences, Biomedical and clinical sciences, Psychology
Abstract

BackgroundGenetic risk for bipolar disorder (BD) is conferred through many common alleles, while a role for rare copy number variants (CNVs) is less clear. Subtypes of BD including schizoaffective disorder bipolar type (SAB), bipolar I disorder (BD I), and bipolar II disorder (BD II) differ according to the prominence and timing of psychosis, mania, and depression. The genetic factors contributing to the combination of symptoms among these subtypes are poorly understood.MethodsRare large CNVs were analyzed in 6353 BD cases (3833 BD I [2676 with psychosis, 850 without psychosis, and 307 with unknown psychosis history], 1436 BD II, 579 SAB, and 505 BD not otherwise specified) and 8656 controls. CNV burden and a polygenic risk score (PRS) for schizophrenia were used to evaluate the relative contributions of rare and common variants to risk of BD, BD subtypes, and psychosis.ResultsCNV burden did not differ between BD and controls when treated as a single diagnostic entity. However, burden in SAB was increased relative to controls (p = .001), BD I (p = .0003), and BD II (p = .0007). Burden and schizophrenia PRSs were increased in SAB compared with BD I with psychosis (CNV p = .0007, PRS p = .004), and BD I without psychosis (CNV p = .0004, PRS p = 3.9 × 10-5). Within BD I, psychosis was associated with increased schizophrenia PRSs (p = .005) but not CNV burden.ConclusionsCNV burden in BD is limited to SAB. Rare and common genetic variants may contribute differently to risk for psychosis and perhaps other classes of psychiatric symptoms.

Published
2019

16. Author Correction: Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.

Author

Davies, Gail, Lam, Max, Harris, Sarah E, Trampush, Joey W, Luciano, Michelle, Hill, W David, Hagenaars, Saskia P, Ritchie, Stuart J, Marioni, Riccardo E, Fawns-Ritchie, Chloe, Liewald, David CM, Okely, Judith A, Ahola-Olli, Ari V, Barnes, Catriona LK, Bertram, Lars, Bis, Joshua C, Burdick, Katherine E, Christoforou, Andrea, DeRosse, Pamela, Djurovic, Srdjan, Espeseth, Thomas, Giakoumaki, Stella, Giddaluru, Sudheer, Gustavson, Daniel E, Hayward, Caroline, Hofer, Edith, Ikram, M Arfan, Karlsson, Robert, Knowles, Emma, Lahti, Jari, Leber, Markus, Li, Shuo, Mather, Karen A, Melle, Ingrid, Morris, Derek, Oldmeadow, Christopher, Palviainen, Teemu, Payton, Antony, Pazoki, Raha, Petrovic, Katja, Reynolds, Chandra A, Sargurupremraj, Muralidharan, Scholz, Markus, Smith, Jennifer A, Smith, Albert V, Terzikhan, Natalie, Thalamuthu, Anbupalam, Trompet, Stella, van der Lee, Sven J, Ware, Erin B, Windham, B Gwen, Wright, Margaret J, Yang, Jingyun, Yu, Jin, Ames, David, Amin, Najaf, Amouyel, Philippe, Andreassen, Ole A, Armstrong, Nicola J, Assareh, Amelia A, Attia, John R, Attix, Deborah, Avramopoulos, Dimitrios, Bennett, David A, Böhmer, Anne C, Boyle, Patricia A, Brodaty, Henry, Campbell, Harry, Cannon, Tyrone D, Cirulli, Elizabeth T, Congdon, Eliza, Conley, Emily Drabant, Corley, Janie, Cox, Simon R, Dale, Anders M, Dehghan, Abbas, Dick, Danielle, Dickinson, Dwight, Eriksson, Johan G, Evangelou, Evangelos, Faul, Jessica D, Ford, Ian, Freimer, Nelson A, Gao, He, Giegling, Ina, Gillespie, Nathan A, Gordon, Scott D, Gottesman, Rebecca F, Griswold, Michael E, Gudnason, Vilmundur, Harris, Tamara B, Hartmann, Annette M, Hatzimanolis, Alex, Heiss, Gerardo, Holliday, Elizabeth G, Joshi, Peter K, Kähönen, Mika, Kardia, Sharon LR, Karlsson, Ida, and Kleineidam, Luca

Abstract

Christina M. Lill, who contributed to analysis of data, was inadvertently omitted from the author list in the originally published version of this article. This has now been corrected in both the PDF and HTML versions of the article.

Published
2019

17. Comparing continuous and harmonized measures of depression severity in older adults with bipolar disorder: Relationship to functioning

Author

Orhan, Melis, Millett, Caitlin, Klaus, Federica, Blumberg, Hilary P., Briggs, Farren, Chung, Kuo-Hsuan, Korten, Nicole, McManus, Kaitlin, van Oppen, Patricia, Patrick, Regan E., Sarna, Kaylee, Sutherland, Ashley, Tsai, Shang-ying, Villa, Luca M., Yala, Joy, Sajatovic, Martha, Burdick, Katherine E., Eyler, Lisa, and Dols, Annemiek

Published
2022
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19. Multi-Trait Analysis of GWAS and Biological Insights Into Cognition: A Response to Hill (2018)

Author

Lam, Max, Trampush, Joey W, Yu, Jin, Knowles, Emma, Djurovic, Srdjan, Melle, Ingrid, Sundet, Kjetil, Christoforou, Andrea, Reinvang, Ivar, DeRosse, Pamela, Lundervold, Astri J, Steen, Vidar M, Espeseth, Thomas, Räikkönen, Katri, Widen, Elisabeth, Palotie, Aarno, Eriksson, Johan G, Giegling, Ina, Konte, Bettina, Roussos, Panos, Giakoumaki, Stella, Burdick, Katherine E, Payton, Antony, Ollier, William, Chiba-Falek, Ornit, Attix, Deborah K, Need, Anna C, Cirulli, Elizabeth T, Voineskos, Aristotle N, Stefanis, Nikos C, Avramopoulos, Dimitrios, Hatzimanolis, Alex, Arking, Dan E, Smyrnis, Nikolaos, Bilder, Robert M, Freimer, Nelson A, Cannon, Tyrone D, London, Edythe, Poldrack, Russell A, Sabb, Fred W, Congdon, Eliza, Conley, Emily Drabant, Scult, Matthew A, Dickinson, Dwight, Straub, Richard E, Donohoe, Gary, Morris, Derek, Corvin, Aiden, Gill, Michael, Hariri, Ahmad R, Weinberger, Daniel R, Pendleton, Neil, Bitsios, Panos, Rujescu, Dan, Lahti, Jari, Le Hellard, Stephanie, Keller, Matthew C, Andreassen, Ole A, Glahn, David C, Malhotra, Anil K, and Lencz, Todd

Subjects
Reproductive Medicine, Biomedical and Clinical Sciences, Clinical Sciences, Human Genome, Genetics, Mental Health, Aetiology, 2.1 Biological and endogenous factors, Cognition, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Nootropic Agents, Polymorphism, Single Nucleotide, GWAS, general cognitive ability, nootropics, gene expression, neurodevelopment, synapse, calcium channel, potassium channel, cerebellum, Paediatrics and Reproductive Medicine, Cognitive Sciences, Genetics & Heredity, Clinical sciences, Reproductive medicine
Abstract

Hill (Twin Research and Human Genetics, Vol. 21, 2018, 84-88) presented a critique of our recently published paper in Cell Reports entitled 'Large-Scale Cognitive GWAS Meta-Analysis Reveals Tissue-Specific Neural Expression and Potential Nootropic Drug Targets' (Lam et al., Cell Reports, Vol. 21, 2017, 2597-2613). Specifically, Hill offered several interrelated comments suggesting potential problems with our use of a new analytic method called Multi-Trait Analysis of GWAS (MTAG) (Turley et al., Nature Genetics, Vol. 50, 2018, 229-237). In this brief article, we respond to each of these concerns. Using empirical data, we conclude that our MTAG results do not suffer from 'inflation in the FDR [false discovery rate]', as suggested by Hill (Twin Research and Human Genetics, Vol. 21, 2018, 84-88), and are not 'more relevant to the genetic contributions to education than they are to the genetic contributions to intelligence'.

Published
2018

20. Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence

Author

Savage, Jeanne E, Jansen, Philip R, Stringer, Sven, Watanabe, Kyoko, Bryois, Julien, de Leeuw, Christiaan A, Nagel, Mats, Awasthi, Swapnil, Barr, Peter B, Coleman, Jonathan RI, Grasby, Katrina L, Hammerschlag, Anke R, Kaminski, Jakob A, Karlsson, Robert, Krapohl, Eva, Lam, Max, Nygaard, Marianne, Reynolds, Chandra A, Trampush, Joey W, Young, Hannah, Zabaneh, Delilah, Hägg, Sara, Hansell, Narelle K, Karlsson, Ida K, Linnarsson, Sten, Montgomery, Grant W, Muñoz-Manchado, Ana B, Quinlan, Erin B, Schumann, Gunter, Skene, Nathan G, Webb, Bradley T, White, Tonya, Arking, Dan E, Avramopoulos, Dimitrios, Bilder, Robert M, Bitsios, Panos, Burdick, Katherine E, Cannon, Tyrone D, Chiba-Falek, Ornit, Christoforou, Andrea, Cirulli, Elizabeth T, Congdon, Eliza, Corvin, Aiden, Davies, Gail, Deary, Ian J, DeRosse, Pamela, Dickinson, Dwight, Djurovic, Srdjan, Donohoe, Gary, Conley, Emily Drabant, Eriksson, Johan G, Espeseth, Thomas, Freimer, Nelson A, Giakoumaki, Stella, Giegling, Ina, Gill, Michael, Glahn, David C, Hariri, Ahmad R, Hatzimanolis, Alex, Keller, Matthew C, Knowles, Emma, Koltai, Deborah, Konte, Bettina, Lahti, Jari, Le Hellard, Stephanie, Lencz, Todd, Liewald, David C, London, Edythe, Lundervold, Astri J, Malhotra, Anil K, Melle, Ingrid, Morris, Derek, Need, Anna C, Ollier, William, Palotie, Aarno, Payton, Antony, Pendleton, Neil, Poldrack, Russell A, Räikkönen, Katri, Reinvang, Ivar, Roussos, Panos, Rujescu, Dan, Sabb, Fred W, Scult, Matthew A, Smeland, Olav B, Smyrnis, Nikolaos, Starr, John M, Steen, Vidar M, Stefanis, Nikos C, Straub, Richard E, Sundet, Kjetil, Tiemeier, Henning, Voineskos, Aristotle N, Weinberger, Daniel R, Widen, Elisabeth, Yu, Jin, Abecasis, Goncalo, Andreassen, Ole A, Breen, Gerome, and Christiansen, Lene

Subjects
Biological Sciences, Genetics, Brain Disorders, Mental Health, Human Genome, Biotechnology, Neurosciences, Underpinning research, 1.1 Normal biological development and functioning, 2.1 Biological and endogenous factors, Aetiology, Mental health, Neurological, Adolescent, Brain, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Intelligence, Male, Middle Aged, Polymorphism, Single Nucleotide, Quantitative Trait Loci, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology
Abstract

Intelligence is highly heritable1 and a major determinant of human health and well-being2. Recent genome-wide meta-analyses have identified 24 genomic loci linked to variation in intelligence3-7, but much about its genetic underpinnings remains to be discovered. Here, we present a large-scale genetic association study of intelligence (n = 269,867), identifying 205 associated genomic loci (190 new) and 1,016 genes (939 new) via positional mapping, expression quantitative trait locus (eQTL) mapping, chromatin interaction mapping, and gene-based association analysis. We find enrichment of genetic effects in conserved and coding regions and associations with 146 nonsynonymous exonic variants. Associated genes are strongly expressed in the brain, specifically in striatal medium spiny neurons and hippocampal pyramidal neurons. Gene set analyses implicate pathways related to nervous system development and synaptic structure. We confirm previous strong genetic correlations with multiple health-related outcomes, and Mendelian randomization analysis results suggest protective effects of intelligence for Alzheimer's disease and ADHD and bidirectional causation with pleiotropic effects for schizophrenia. These results are a major step forward in understanding the neurobiology of cognitive function as well as genetically related neurological and psychiatric disorders.

Published
2018

21. Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.

Author

Davies, Gail, Lam, Max, Harris, Sarah E, Trampush, Joey W, Luciano, Michelle, Hill, W David, Hagenaars, Saskia P, Ritchie, Stuart J, Marioni, Riccardo E, Fawns-Ritchie, Chloe, Liewald, David CM, Okely, Judith A, Ahola-Olli, Ari V, Barnes, Catriona LK, Bertram, Lars, Bis, Joshua C, Burdick, Katherine E, Christoforou, Andrea, DeRosse, Pamela, Djurovic, Srdjan, Espeseth, Thomas, Giakoumaki, Stella, Giddaluru, Sudheer, Gustavson, Daniel E, Hayward, Caroline, Hofer, Edith, Ikram, M Arfan, Karlsson, Robert, Knowles, Emma, Lahti, Jari, Leber, Markus, Li, Shuo, Mather, Karen A, Melle, Ingrid, Morris, Derek, Oldmeadow, Christopher, Palviainen, Teemu, Payton, Antony, Pazoki, Raha, Petrovic, Katja, Reynolds, Chandra A, Sargurupremraj, Muralidharan, Scholz, Markus, Smith, Jennifer A, Smith, Albert V, Terzikhan, Natalie, Thalamuthu, Anbupalam, Trompet, Stella, van der Lee, Sven J, Ware, Erin B, Windham, B Gwen, Wright, Margaret J, Yang, Jingyun, Yu, Jin, Ames, David, Amin, Najaf, Amouyel, Philippe, Andreassen, Ole A, Armstrong, Nicola J, Assareh, Amelia A, Attia, John R, Attix, Deborah, Avramopoulos, Dimitrios, Bennett, David A, Böhmer, Anne C, Boyle, Patricia A, Brodaty, Henry, Campbell, Harry, Cannon, Tyrone D, Cirulli, Elizabeth T, Congdon, Eliza, Conley, Emily Drabant, Corley, Janie, Cox, Simon R, Dale, Anders M, Dehghan, Abbas, Dick, Danielle, Dickinson, Dwight, Eriksson, Johan G, Evangelou, Evangelos, Faul, Jessica D, Ford, Ian, Freimer, Nelson A, Gao, He, Giegling, Ina, Gillespie, Nathan A, Gordon, Scott D, Gottesman, Rebecca F, Griswold, Michael E, Gudnason, Vilmundur, Harris, Tamara B, Hartmann, Annette M, Hatzimanolis, Alex, Heiss, Gerardo, Holliday, Elizabeth G, Joshi, Peter K, Kähönen, Mika, Kardia, Sharon LR, Karlsson, Ida, and Kleineidam, Luca

Subjects
Humans, Neurodegenerative Diseases, Genetic Predisposition to Disease, Cognition, Reaction Time, Mental Disorders, Multifactorial Inheritance, Polymorphism, Single Nucleotide, Adolescent, Adult, Aged, Aged, 80 and over, Middle Aged, Young Adult, Genetic Loci, Neurodevelopmental Disorders, Prevention, Behavioral and Social Science, Mental Health, Neurosciences, Biotechnology, Genetics, Human Genome, Neurological, Mental health
Abstract

General cognitive function is a prominent and relatively stable human trait that is associated with many important life outcomes. We combine cognitive and genetic data from the CHARGE and COGENT consortia, and UK Biobank (total N = 300,486; age 16-102) and find 148 genome-wide significant independent loci (P

Published
2018

23. Large-Scale Cognitive GWAS Meta-Analysis Reveals Tissue-Specific Neural Expression and Potential Nootropic Drug Targets

Author

Lam, Max, Trampush, Joey W, Yu, Jin, Knowles, Emma, Davies, Gail, Liewald, David C, Starr, John M, Djurovic, Srdjan, Melle, Ingrid, Sundet, Kjetil, Christoforou, Andrea, Reinvang, Ivar, DeRosse, Pamela, Lundervold, Astri J, Steen, Vidar M, Espeseth, Thomas, Räikkönen, Katri, Widen, Elisabeth, Palotie, Aarno, Eriksson, Johan G, Giegling, Ina, Konte, Bettina, Roussos, Panos, Giakoumaki, Stella, Burdick, Katherine E, Payton, Antony, Ollier, William, Chiba-Falek, Ornit, Attix, Deborah K, Need, Anna C, Cirulli, Elizabeth T, Voineskos, Aristotle N, Stefanis, Nikos C, Avramopoulos, Dimitrios, Hatzimanolis, Alex, Arking, Dan E, Smyrnis, Nikolaos, Bilder, Robert M, Freimer, Nelson A, Cannon, Tyrone D, London, Edythe, Poldrack, Russell A, Sabb, Fred W, Congdon, Eliza, Conley, Emily Drabant, Scult, Matthew A, Dickinson, Dwight, Straub, Richard E, Donohoe, Gary, Morris, Derek, Corvin, Aiden, Gill, Michael, Hariri, Ahmad R, Weinberger, Daniel R, Pendleton, Neil, Bitsios, Panos, Rujescu, Dan, Lahti, Jari, Le Hellard, Stephanie, Keller, Matthew C, Andreassen, Ole A, Deary, Ian J, Glahn, David C, Malhotra, Anil K, and Lencz, Todd

Subjects
Biological Sciences, Genetics, Neurosciences, Human Genome, Mental Health, Brain Disorders, Biotechnology, Pediatric, 2.1 Biological and endogenous factors, 1.1 Normal biological development and functioning, Mental health, Neurological, Cefotaxime, Cognition, Female, Genetic Loci, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Male, Nootropic Agents, Polymorphism, Single Nucleotide, Synapses, GWAS, calcium channel, cerebellum, gene expression, general cognitive ability, neurodevelopment, nootropics, potassium channel, synapse, Biochemistry and Cell Biology, Medical Physiology, Biological sciences
Abstract

Here, we present a large (n = 107,207) genome-wide association study (GWAS) of general cognitive ability ("g"), further enhanced by combining results with a large-scale GWAS of educational attainment. We identified 70 independent genomic loci associated with general cognitive ability. Results showed significant enrichment for genes causing Mendelian disorders with an intellectual disability phenotype. Competitive pathway analysis implicated the biological processes of neurogenesis and synaptic regulation, as well as the gene targets of two pharmacologic agents: cinnarizine, a T-type calcium channel blocker, and LY97241, a potassium channel inhibitor. Transcriptome-wide and epigenome-wide analysis revealed that the implicated loci were enriched for genes expressed across all brain regions (most strongly in the cerebellum). Enrichment was exclusive to genes expressed in neurons but not oligodendrocytes or astrocytes. Finally, we report genetic correlations between cognitive ability and disparate phenotypes including psychiatric disorders, several autoimmune disorders, longevity, and maternal age at first birth.

Published
2017

28. Efficacy and safety of established and off‐label ADHD drug therapies for cognitive impairment or attention‐deficit hyperactivity disorder symptoms in bipolar disorder: A systematic review by the ISBD Targeting Cognition Task Force

Author

Miskowiak, Kamilla W., primary, Obel, Zacharias K., additional, Gugliemo, Riccardo, additional, Bonnin, Caterina del Mar, additional, Bowie, Christopher R., additional, Balanzá‐Martínez, Vicente, additional, Burdick, Katherine E., additional, Carvalho, Andre F., additional, Dols, Annemieke, additional, Douglas, Katie, additional, Gallagher, Peter, additional, Kessing, Lars V., additional, Lafer, Beny, additional, Lewandowski, Kathryn E., additional, López‐Jaramillo, Carlos, additional, Martinez‐Aran, Anabel, additional, McIntyre, Roger S., additional, Porter, Richard J., additional, Purdon, Scot E., additional, Schaffer, Ayal, additional, Stokes, Paul R. A., additional, Sumiyoshi, Tomiki, additional, Torres, Ivan J., additional, Van Rheenen, Tamsyn E., additional, Yatham, Lakshmi N., additional, Young, Allan H., additional, Vieta, Eduard, additional, and Hasler, Gregor, additional

Published
2024
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29. The Pharmacogenomics of Bipolar Disorder study (PGBD): identification of genes for lithium response in a prospective sample

Author

Oedegaard, Ketil J, Alda, Martin, Anand, Anit, Andreassen, Ole A, Balaraman, Yokesh, Berrettini, Wade H, Bhattacharjee, Abesh, Brennand, Kristen J, Burdick, Katherine E, Calabrese, Joseph R, Calkin, Cynthia V, Claasen, Ana, Coryell, William H, Craig, David, DeModena, Anna, Frye, Mark, Gage, Fred H, Gao, Keming, Garnham, Julie, Gershon, Elliot, Jakobsen, Petter, Leckband, Susan G, McCarthy, Michael J, McInnis, Melvin G, Maihofer, Adam X, Mertens, Jerome, Morken, Gunnar, Nievergelt, Caroline M, Nurnberger, John, Pham, Son, Schoeyen, Helle, Shekhtman, Tatyana, Shilling, Paul D, Szelinger, Szabolcs, Tarwater, Bruce, Yao, Jun, Zandi, Peter P, and Kelsoe, John R

Subjects
Pharmacology and Pharmaceutical Sciences, Biomedical and Clinical Sciences, Health Sciences, Brain Disorders, Human Genome, Genetics, Depression, Mental Health, Clinical Research, Prevention, Behavioral and Social Science, Detection, screening and diagnosis, Evaluation of treatments and therapeutic interventions, 4.2 Evaluation of markers and technologies, 6.1 Pharmaceuticals, Mental health, Aged, Antidepressive Agents, Bipolar Disorder, Diagnostic and Statistical Manual of Mental Disorders, Female, Follow-Up Studies, Genome-Wide Association Study, Humans, Lithium Compounds, Male, Middle Aged, Pharmacogenetics, Prospective Studies, Retrospective Studies, Secondary Prevention, Valproic Acid, Bipolar disorder, Lithium, Mood stabilizer, GWAS, Prospective trial, Personalized medicine, Precision medicine, Clinical Sciences, Public Health and Health Services, Psychology, Psychiatry, Clinical sciences, Epidemiology, Clinical and health psychology
Abstract

BackgroundBipolar disorder is a serious and common psychiatric disorder characterized by manic and depressive mood switches and a relapsing and remitting course. The cornerstone of clinical management is stabilization and prophylaxis using mood-stabilizing medications to reduce both manic and depressive symptoms. Lithium remains the gold standard of treatment with the strongest data for both efficacy and suicide prevention. However, many patients do not respond to this medication, and clinically there is a great need for tools to aid the clinician in selecting the correct treatment. Large genome wide association studies (GWAS) investigating retrospectively the effect of lithium response are in the pipeline; however, few large prospective studies on genetic predictors to of lithium response have yet been conducted. The purpose of this project is to identify genes that are associated with lithium response in a large prospective cohort of bipolar patients and to better understand the mechanism of action of lithium and the variation in the genome that influences clinical response.Methods/designThis study is an 11-site prospective non-randomized open trial of lithium designed to ascertain a cohort of 700 subjects with bipolar I disorder who experience protocol-defined relapse prevention as a result of treatment with lithium monotherapy. All patients will be diagnosed using the Diagnostic Interview for Genetic Studies (DIGS) and will then enter a 2-year follow-up period on lithium monotherapy if and when they exhibit a score of 1 (normal, not ill), 2 (minimally ill) or 3 (mildly ill) on the Clinical Global Impressions of Severity Scale for Bipolar Disorder (CGI-S-BP Overall Bipolar Illness) for 4 of the 5 preceding weeks. Lithium will be titrated as clinically appropriate, not to exceed serum levels of 1.2 mEq/L. The sample will be evaluated longitudinally using a wide range of clinical scales, cognitive assessments and laboratory tests. On relapse, patients will be discontinued or crossed-over to treatment with valproic acid (VPA) or treatment as usual (TAU). Relapse is defined as a DSM-IV manic, major depressive or mixed episode or if the treating physician decides a change in medication is clinically necessary. The sample will be genotyped for GWAS. The outcome for lithium response will be analyzed as a time to event, where the event is defined as clinical relapse, using a Cox Proportional Hazards model. Positive single nucleotide polymorphisms (SNPs) from past genetic retrospective studies of lithium response, the Consortium on Lithium Genetics (ConLiGen), will be tested in this prospective study sample; a meta-analysis of these samples will then be performed. Finally, neurons will be derived from pluripotent stem cells from lithium responders and non-responders and tested in vivo for response to lithium by gene expression studies. SNPs in genes identified in these cellular studies will also be tested for association to response.DiscussionLithium is an extraordinarily important therapeutic drug in the clinical management of patients suffering from bipolar disorder. However, a significant proportion of patients, 30-40 %, fail to respond, and there is currently no method to identify the good lithium responders before initiation of treatment. Converging evidence suggests that genetic factors play a strong role in the variation of response to lithium, but only a few genes have been tested and the samples have largely been retrospective or quite small. The current study will collect an entirely unique sample of 700 patients with bipolar disorder to be stabilized on lithium monotherapy and followed for up to 2 years. This study will produce useful information to improve the understanding of the mechanism of action of lithium and will add to the development of a method to predict individual response to lithium, thereby accelerating recovery and reducing suffering and cost.Trial registrationClinicalTrials.gov Identifier: NCT01272531 Registered: January 6, 2011.

Published
2016

31. Efficacy and safety of established and off-label ADHD drug therapies for cognitive impairment or attention-deficit hyperactivity disorder symptoms in bipolar disorder:A systematic review by the ISBD Targeting Cognition Task Force

Author

Miskowiak, Kamilla W., Obel, Zacharias K., Gugliemo, Riccardo, Bonnin, Caterina del Mar, Bowie, Christopher R., Balanzá-Martínez, Vicente, Burdick, Katherine E., Carvalho, Andre F., Dols, Annemieke, Douglas, Katie, Gallagher, Peter, Kessing, Lars V., Lafer, Beny, Lewandowski, Kathryn E., López-Jaramillo, Carlos, Martinez-Aran, Anabel, McIntyre, Roger S., Porter, Richard J., Purdon, Scot E., Schaffer, Ayal, Stokes, Paul R. A., Sumiyoshi, Tomiki, Torres, Ivan J., Van Rheenen, Tamsyn E., Yatham, Lakshmi N., Young, Allan H., Vieta, Eduard, Hasler, Gregor, Miskowiak, Kamilla W., Obel, Zacharias K., Gugliemo, Riccardo, Bonnin, Caterina del Mar, Bowie, Christopher R., Balanzá-Martínez, Vicente, Burdick, Katherine E., Carvalho, Andre F., Dols, Annemieke, Douglas, Katie, Gallagher, Peter, Kessing, Lars V., Lafer, Beny, Lewandowski, Kathryn E., López-Jaramillo, Carlos, Martinez-Aran, Anabel, McIntyre, Roger S., Porter, Richard J., Purdon, Scot E., Schaffer, Ayal, Stokes, Paul R. A., Sumiyoshi, Tomiki, Torres, Ivan J., Van Rheenen, Tamsyn E., Yatham, Lakshmi N., Young, Allan H., Vieta, Eduard, and Hasler, Gregor

Abstract

Background Abnormalities in dopamine and norepinephrine signaling are implicated in cognitive impairments in bipolar disorder (BD) and attention-deficit hyperactivity disorder (ADHD). This systematic review by the ISBD Targeting Cognition Task Force therefore aimed to investigate the possible benefits on cognition and/or ADHD symptoms and safety of established and off-label ADHD therapies in BD. Methods We included studies of ADHD medications in BD patients, which involved cognitive and/or safety measures. We followed the procedures of the Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) 2020 statement. Searches were conducted on PubMed, Embase and PsycINFO from inception until June 2023. Two authors reviewed the studies independently using the Revised Cochrane Collaboration's Risk of Bias tool for Randomized trials. Results Seventeen studies were identified (N = 2136), investigating armodafinil (k = 4, N = 1581), methylphenidate (k = 4, N = 84), bupropion (k = 4, n = 249), clonidine (k = 1, n = 70), lisdexamphetamine (k = 1, n = 25), mixed amphetamine salts (k = 1, n = 30), or modafinil (k = 2, n = 97). Three studies investigated cognition, four ADHD symptoms, and 10 the safety. Three studies found treatment-related ADHD symptom reduction: two involved methylphenidate and one amphetamine salts. One study found a trend towards pro-cognitive effects of modafinil on some cognitive domains. No increased risk of (hypo)mania was observed. Five studies had low risk of bias, eleven a moderate risk, and one a serious risk of bias. Conclusions Methylphenidate or mixed amphetamine salts may improve ADHD symptoms in BD. However, there is limited evidence regarding the effectiveness on cognition. The medications produced no increased mania risk when used alongside mood stabilizers. Further robust studies are needed to assess cognition in BD patients receiving psychostimulant treatment alongside mood stabilize, Background: Abnormalities in dopamine and norepinephrine signaling are implicated in cognitive impairments in bipolar disorder (BD) and attention-deficit hyperactivity disorder (ADHD). This systematic review by the ISBD Targeting Cognition Task Force therefore aimed to investigate the possible benefits on cognition and/or ADHD symptoms and safety of established and off-label ADHD therapies in BD. Methods: We included studies of ADHD medications in BD patients, which involved cognitive and/or safety measures. We followed the procedures of the Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) 2020 statement. Searches were conducted on PubMed, Embase and PsycINFO from inception until June 2023. Two authors reviewed the studies independently using the Revised Cochrane Collaboration's Risk of Bias tool for Randomized trials. Results: Seventeen studies were identified (N = 2136), investigating armodafinil (k = 4, N = 1581), methylphenidate (k = 4, N = 84), bupropion (k = 4, n = 249), clonidine (k = 1, n = 70), lisdexamphetamine (k = 1, n = 25), mixed amphetamine salts (k = 1, n = 30), or modafinil (k = 2, n = 97). Three studies investigated cognition, four ADHD symptoms, and 10 the safety. Three studies found treatment-related ADHD symptom reduction: two involved methylphenidate and one amphetamine salts. One study found a trend towards pro-cognitive effects of modafinil on some cognitive domains. No increased risk of (hypo)mania was observed. Five studies had low risk of bias, eleven a moderate risk, and one a serious risk of bias. Conclusions: Methylphenidate or mixed amphetamine salts may improve ADHD symptoms in BD. However, there is limited evidence regarding the effectiveness on cognition. The medications produced no increased mania risk when used alongside mood stabilizers. Further robust studies are needed to assess cognition in BD patients receiving psychostimulant treatment alongside mood stabilizers.

Published
2024

32. Efficacy and safety of established and off-label ADHD drug therapies for cognitive impairment or attention-deficit hyperactivity disorder symptoms in bipolar disorder: A systematic review by the ISBD Targeting Cognition Task Force

Author

Acuut & Intensieve Zorg Med., Brain, Miskowiak, Kamilla W, Obel, Zacharias K, Gugliemo, Riccardo, Bonnin, Caterina Del Mar, Bowie, Christopher R, Balanzá-Martínez, Vicente, Burdick, Katherine E, Carvalho, Andre F, Dols, Annemieke, Douglas, Katie, Gallagher, Peter, Kessing, Lars V, Lafer, Beny, Lewandowski, Kathryn E, López-Jaramillo, Carlos, Martinez-Aran, Anabel, McIntyre, Roger S, Porter, Richard J, Purdon, Scot E, Schaffer, Ayal, Stokes, Paul R A, Sumiyoshi, Tomiki, Torres, Ivan J, Van Rheenen, Tamsyn E, Yatham, Lakshmi N, Young, Allan H, Vieta, Eduard, Hasler, Gregor, Acuut & Intensieve Zorg Med., Brain, Miskowiak, Kamilla W, Obel, Zacharias K, Gugliemo, Riccardo, Bonnin, Caterina Del Mar, Bowie, Christopher R, Balanzá-Martínez, Vicente, Burdick, Katherine E, Carvalho, Andre F, Dols, Annemieke, Douglas, Katie, Gallagher, Peter, Kessing, Lars V, Lafer, Beny, Lewandowski, Kathryn E, López-Jaramillo, Carlos, Martinez-Aran, Anabel, McIntyre, Roger S, Porter, Richard J, Purdon, Scot E, Schaffer, Ayal, Stokes, Paul R A, Sumiyoshi, Tomiki, Torres, Ivan J, Van Rheenen, Tamsyn E, Yatham, Lakshmi N, Young, Allan H, Vieta, Eduard, and Hasler, Gregor

Published
2024

38. Publisher Correction: Macro and micro sleep architecture and cognitive performance in older adults

Author

Djonlagic, Ina, Mariani, Sara, Fitzpatrick, Annette L., Van Der Klei, Veerle M. G. T. H., Johnson, Dayna A., Wood, Alexis C., Seeman, Teresa, Nguyen, Ha T., Prerau, Michael J., Luchsinger, José A., Dzierzewski, Joseph M., Rapp, Stephen R., Tranah, Gregory J., Yaffe, Kristine, Burdick, Katherine E., Stone, Katie L., Redline, Susan, and Purcell, Shaun M.

Published
2021
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40. Predictors of Functional Impairment in Bipolar Disorder: Results From 13 Cohorts From Seven Countries by the Global Bipolar Cohort Collaborative

Author

Burdick, Katherine E., primary, Millett, Caitlin E., additional, Yocum, Anastasia K., additional, Altimus, Cara M., additional, Andreassen, Ole A., additional, Aubin, Valerie, additional, Belzeaux, Raoul, additional, Berk, Michael, additional, Biernacka, Joanna M., additional, Blumberg, Hilary P., additional, Cleare, Anthony J., additional, Diaz-Byrd, Claudia, additional, Dubertret, Caroline, additional, Etain, Bruno, additional, Eyler, Lisa T., additional, Forester, Brent P., additional, Fullerton, Janice M., additional, Frye, Mark A., additional, Gard, Sébastien, additional, Godin, Ophelia, additional, Haffen, Emmanuel, additional, Klaus, Federica, additional, Lagerberg, Trine Vik, additional, Leboyer, Marion, additional, Martinez-Aran, Anabel, additional, McElroy, Susan, additional, Mitchell, Philip B., additional, Olie, Emilie, additional, Olorunfemi, Phebe, additional, Passerieux, Christine, additional, Peters, Amy T., additional, Pham, Daniel L., additional, Polosan, Mircea, additional, Potter, Julia R., additional, Sajatovic, Martha, additional, Samalin, Ludovic, additional, Schwan, Raymund, additional, Shanahan, Megan, additional, Solé, Brisa, additional, Strawbridge, Rebecca, additional, Stuart, Amanda L., additional, Torres, Ivan, additional, Ueland, Torrill, additional, Vieta, Eduard, additional, Williams, Lana J., additional, Wrobel, Anna L., additional, Yatham, Lakshmi N., additional, Young, Allan H., additional, Nierenberg, Andrew A., additional, and McInnis, Melvin G., additional

Published
2023
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45. Focal adhesion is associated with lithium response in bipolar disorder: evidence from a network-based multi-omics analysis.

Author

Niemsiri, Vipavee, Niemsiri, Vipavee, Rosenthal, Sara Brin, Nievergelt, Caroline M, Maihofer, Adam X, Marchetto, Maria C, Santos, Renata, Shekhtman, Tatyana, Alliey-Rodriguez, Ney, Anand, Amit, Balaraman, Yokesh, Berrettini, Wade H, Bertram, Holli, Burdick, Katherine E, Calabrese, Joseph R, Calkin, Cynthia V, Conroy, Carla, Coryell, William H, DeModena, Anna, Eyler, Lisa T, Feeder, Scott, Fisher, Carrie, Frazier, Nicole, Frye, Mark A, Gao, Keming, Garnham, Julie, Gershon, Elliot S, Goes, Fernando S, Goto, Toyomi, Harrington, Gloria J, Jakobsen, Petter, Kamali, Masoud, Kelly, Marisa, Leckband, Susan G, Lohoff, Falk W, McCarthy, Michael J, McInnis, Melvin G, Craig, David, Millett, Caitlin E, Mondimore, Francis, Morken, Gunnar, Nurnberger, John I, Donovan, Claire O', Øedegaard, Ketil J, Ryan, Kelly, Schinagle, Martha, Shilling, Paul D, Slaney, Claire, Stapp, Emma K, Stautland, Andrea, Tarwater, Bruce, Zandi, Peter P, Alda, Martin, Fisch, Kathleen M, Gage, Fred H, Kelsoe, John R, Niemsiri, Vipavee, Niemsiri, Vipavee, Rosenthal, Sara Brin, Nievergelt, Caroline M, Maihofer, Adam X, Marchetto, Maria C, Santos, Renata, Shekhtman, Tatyana, Alliey-Rodriguez, Ney, Anand, Amit, Balaraman, Yokesh, Berrettini, Wade H, Bertram, Holli, Burdick, Katherine E, Calabrese, Joseph R, Calkin, Cynthia V, Conroy, Carla, Coryell, William H, DeModena, Anna, Eyler, Lisa T, Feeder, Scott, Fisher, Carrie, Frazier, Nicole, Frye, Mark A, Gao, Keming, Garnham, Julie, Gershon, Elliot S, Goes, Fernando S, Goto, Toyomi, Harrington, Gloria J, Jakobsen, Petter, Kamali, Masoud, Kelly, Marisa, Leckband, Susan G, Lohoff, Falk W, McCarthy, Michael J, McInnis, Melvin G, Craig, David, Millett, Caitlin E, Mondimore, Francis, Morken, Gunnar, Nurnberger, John I, Donovan, Claire O', Øedegaard, Ketil J, Ryan, Kelly, Schinagle, Martha, Shilling, Paul D, Slaney, Claire, Stapp, Emma K, Stautland, Andrea, Tarwater, Bruce, Zandi, Peter P, Alda, Martin, Fisch, Kathleen M, Gage, Fred H, and Kelsoe, John R

Abstract

Lithium (Li) is one of the most effective drugs for treating bipolar disorder (BD), however, there is presently no way to predict response to guide treatment. The aim of this study is to identify functional genes and pathways that distinguish BD Li responders (LR) from BD Li non-responders (NR). An initial Pharmacogenomics of Bipolar Disorder study (PGBD) GWAS of lithium response did not provide any significant results. As a result, we then employed network-based integrative analysis of transcriptomic and genomic data. In transcriptomic study of iPSC-derived neurons, 41 significantly differentially expressed (DE) genes were identified in LR vs NR regardless of lithium exposure. In the PGBD, post-GWAS gene prioritization using the GWA-boosting (GWAB) approach identified 1119 candidate genes. Following DE-derived network propagation, there was a highly significant overlap of genes between the top 500- and top 2000-proximal gene networks and the GWAB gene list (Phypergeometric = 1.28E-09 and 4.10E-18, respectively). Functional enrichment analyses of the top 500 proximal network genes identified focal adhesion and the extracellular matrix (ECM) as the most significant functions. Our findings suggest that the difference between LR and NR was a much greater effect than that of lithium. The direct impact of dysregulation of focal adhesion on axon guidance and neuronal circuits could underpin mechanisms of response to lithium, as well as underlying BD. It also highlights the power of integrative multi-omics analysis of transcriptomic and genomic profiling to gain molecular insights into lithium response in BD.

Published
2023

46. Patterns of pharmacotherapy for bipolar disorder: A GBC survey.

Author

Singh, Balwinder, Yocum, Anastasia K., Strawbridge, Rebecca, Burdick, Katherine E., Millett, Caitlin E., Peters, Amy T., Sperry, Sarah H., Fico, Giovanna, Vieta, Eduard, Verdolini, Norma, Godin, Ophelia, Leboyer, Marion, Etain, Bruno, Tso, Ivy F., Coombes, Brandon J., McInnis, Melvin G., Nierenberg, Andrew A., Young, Allan H., Ashton, Melanie M., and Berk, Michael

Subjects
DRUG therapy, BIPOLAR disorder, LITHIUM carbonate, ANTICONVULSANTS, MOOD stabilizers
Abstract

Objectives: To understand treatment practices for bipolar disorders (BD), this study leveraged the Global Bipolar Cohort collaborative network to investigate pharmacotherapeutic treatment patterns in multiple cohorts of well‐characterized individuals with BD in North America, Europe, and Australia. Methods: Data on pharmacotherapy, demographics, diagnostic subtypes, and comorbidities were provided from each participating cohort. Individual site and regional pooled proportional meta‐analyses with generalized linear mixed methods were conducted to identify prescription patterns. Results: This study included 10,351 individuals from North America (n = 3985), Europe (n = 3822), and Australia (n = 2544). Overall, participants were predominantly female (60%) with BD‐I (60%; vs. BD‐II = 33%). Cross‐sectionally, mood‐stabilizing anticonvulsants (44%), second‐generation antipsychotics (42%), and antidepressants (38%) were the most prescribed medications. Lithium was prescribed in 29% of patients, primarily in the Australian (31%) and European (36%) cohorts. First‐generation antipsychotics were prescribed in 24% of the European versus 1% in the North American cohort. Antidepressant prescription rates were higher in BD‐II (47%) compared to BD‐I (35%). Major limitations were significant differences among cohorts based on inclusion/exclusion criteria, data source, and time/year of enrollment into cohort. Conclusions: Mood‐stabilizing anticonvulsants, second‐generation antipsychotics, and antidepressants were the most prescribed medications suggesting prescription patterns that are not necessarily guideline concordant. Significant differences exist in the prescription practices across different geographic regions, especially the underutilization of lithium in the North American cohorts and the higher utilization of first‐generation antipsychotics in the European cohorts. There is a need to conduct future longitudinal studies to further explore these differences and their impact on outcomes, and to inform and implement evidence‐based guidelines to help improve treatment practices in BD. [ABSTRACT FROM AUTHOR]

Published
2024
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47. Focal adhesion is associated with lithium response in bipolar disorder: evidence from a network-based multi-omics analysis

Author

Niemsiri, Vipavee, primary, Rosenthal, Sara Brin, additional, Nievergelt, Caroline M., additional, Maihofer, Adam X., additional, Marchetto, Maria C., additional, Santos, Renata, additional, Shekhtman, Tatyana, additional, Alliey-Rodriguez, Ney, additional, Anand, Amit, additional, Balaraman, Yokesh, additional, Berrettini, Wade H., additional, Bertram, Holli, additional, Burdick, Katherine E., additional, Calabrese, Joseph R., additional, Calkin, Cynthia V., additional, Conroy, Carla, additional, Coryell, William H., additional, DeModena, Anna, additional, Eyler, Lisa T., additional, Feeder, Scott, additional, Fisher, Carrie, additional, Frazier, Nicole, additional, Frye, Mark A., additional, Gao, Keming, additional, Garnham, Julie, additional, Gershon, Elliot S., additional, Goes, Fernando S., additional, Goto, Toyomi, additional, Harrington, Gloria J., additional, Jakobsen, Petter, additional, Kamali, Masoud, additional, Kelly, Marisa, additional, Leckband, Susan G., additional, Lohoff, Falk W., additional, McCarthy, Michael J., additional, McInnis, Melvin G., additional, Craig, David, additional, Millett, Caitlin E., additional, Mondimore, Francis, additional, Morken, Gunnar, additional, Nurnberger, John I., additional, Donovan, Claire O’, additional, Øedegaard, Ketil J., additional, Ryan, Kelly, additional, Schinagle, Martha, additional, Shilling, Paul D., additional, Slaney, Claire, additional, Stapp, Emma K., additional, Stautland, Andrea, additional, Tarwater, Bruce, additional, Zandi, Peter P., additional, Alda, Martin, additional, Fisch, Kathleen M., additional, Gage, Fred H., additional, and Kelsoe, John R., additional

Published
2023
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