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1. Association between a large change between the minimum and maximum monthly values of solar insolation and a history of suicide attempts in bipolar I disorder

Author: Philipp Ritter, Tasha Glenn, Eric D. Achtyes, Martin Alda, Esen Agaoglu, Kürsat Altınbaş, Ole A. Andreassen, Elias Angelopoulos, Raffaella Ardau, Memduha Aydin, Yavuz Ayhan, Christopher Baethge, Rita Bauer, Bernhard T. Baune, Ceylan Balaban, Claudia Becerra-Palars, Aniruddh P. Behere, Prakash B. Behere, Habte Belete, Tilahun Belete, Gabriel Okawa Belizario, Frank Bellivier, Robert H. Belmaker, Francesco Benedetti, Michael Berk, Yuly Bersudsky, Şule Bicakci, Harriet Birabwa-Oketcho, Thomas D. Bjella, Conan Brady, Jorge Cabrera, Marco Cappucciati, Angela Marianne Paredes Castro, Wei-Ling Chen, Eric Y. W. Cheung, Silvia Chiesa, Margarita Chanopoulou, Marie Crowe, Alessandro Cuomo, Sara Dallaspezia, Pratikkumar Desai, Seetal Dodd, Bruno Etain, Andrea Fagiolini, Frederike T. Fellendorf, Ewa Ferensztajn-Rochowiak, Jess G. Fiedorowicz, Kostas N. Fountoulakis, Mark A. Frye, Pierre A. Geoffroy, Michael J. Gitlin, Ana Gonzalez-Pinto, John F. Gottlieb, Paul Grof, Bartholomeus C. M. Haarman, Hirohiko Harima, Mathias Hasse-Sousa, Chantal Henry, Lone Hoffding, Josselin Houenou, Massimiliano Imbesi, Erkki T. Isometsä, Maja Ivkovic, Sven Janno, Simon Johnsen, Flávio Kapczinski, Grigorios N. Karakatsoulis, Mathias Kardell, Lars Vedel Kessing, Seong Jae Kim, Barbara König, Timur L. Kot, Michael Koval, Mauricio Kunz, Beny Lafer, Mikael Landén, Erik R. Larsen, Rasmus W. Licht, Vera M. Ludwig, Carlos Lopez-Jaramillo, Alan MacKenzie, Helle Østergaard Madsen, Simone Alberte Kongstad A. Madsen, Jayant Mahadevan, Agustine Mahardika, Mirko Manchia, Wendy Marsh, Monica Martinez-Cengotitabengoa, Julia Martini, Klaus Martiny, Yuki Mashima, Declan M. McLoughlin, Alie N. R. Meesters, Ybe Meesters, Ingrid Melle, Fátima Meza-Urzúa, Elisabeth Michaelis, Pavol Mikolas, Yee Ming Mok, Scott Monteith, Muthukumaran Moorthy, Gunnar Morken, Enrica Mosca, Anton A. Mozzhegorov, Rodrigo Munoz, Starlin V. Mythri, Fethi Nacef, Ravi K. Nadella, Takako Nakanotani, René Ernst Nielsen, Claire O’Donovan, Adel Omrani, Yamima Osher, Uta Ouali, Maja Pantovic-Stefanovic, Pornjira Pariwatcharakul, Joanne Petite, Johannes Petzold, Andrea Pfennig, Maximilian Pilhatsch, Yolanda Pica Ruiz, Marco Pinna, Maurizio Pompili, Richard Porter, Danilo Quiroz, Francisco Diego Rabelo-da-Ponte, Raj Ramesar, Natalie Rasgon, Woraphat Ratta-apha, Maria Redahan, M. S. Reddy, Andreas Reif, Eva Z. Reininghaus, Jenny Gringer Richards, Janusz K. Rybakowski, Leela Sathyaputri, Angela M. Scippa, Christian Simhandl, Daniel Smith, José Smith, Paul W. Stackhouse, Dan J. Stein, Kellen Stilwell, Sergio Strejilevich, Kuan-Pin Su, Mythily Subramaniam, Ahmad Hatim Sulaiman, Kirsi Suominen, Andi J. Tanra, Yoshitaka Tatebayashi, Wen Lin Teh, Leonardo Tondo, Carla Torrent, Daniel Tuinstra, Takahito Uchida, Arne E. Vaaler, Eduard Vieta, Biju Viswanath, Carlo Volf, Kai-Jie Yang, Maria Yoldi-Negrete, Oguz Kaan Yalcinkaya, Allan H. Young, Yosra Zgueb, Peter C. Whybrow, and Michael Bauer
Subjects: Solar insolation, Bipolar disorder, Suicide attempt, Environment, Sunlight, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurophysiology and neuropsychology, QP351-495
Abstract: Abstract Background The rate of suicide attempts by patients with bipolar disorder is high. In addition to patient and country specific factors, environmental factors may contribute to suicidal behavior. Sunlight has multiple diverse impacts on human physiology and behavior. Solar insolation is defined as the electromagnetic energy from the sun striking a surface area on earth. We previously found that a large change in solar insolation between the minimum and maximum monthly values was associated with an increased risk of suicide attempts in patients with bipolar I disorder. Methods The association between solar insolation and a history of suicide attempts in bipolar disorder was again investigated using an international database with 15% more data and more sites at diverse locations and countries. Results Data were available from 5641 patients with bipolar I disorder living at a wide range of latitudes in 41 countries in both hemispheres. A large change in solar insolation between the minimum and maximum monthly values was associated with a history of suicide attempts in patients with bipolar I disorder, a replication of our prior analysis. The estimated model also associated state sponsored religion in the onset country, female gender, a history of alcohol or substance abuse, and being part of a younger birth cohort with a history of suicide attempts. Conclusions A large change between the minimum and maximum monthly values of solar insolation was associated with a history of suicide attempts in bipolar I disorder, replicating our prior research. Physicians should be aware that daylight has wide ranging physiological and psychiatric impacts, and that living with large changes in solar insolation may be associated with an increased suicide risk.
Published: 2024
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2. Exploring the genetics of lithium response in bipolar disorders

Author: Marisol Herrera-Rivero, Mazda Adli, Kazufumi Akiyama, Nirmala Akula, Azmeraw T. Amare, Raffaella Ardau, Bárbara Arias, Jean-Michel Aubry, Lena Backlund, Frank Bellivier, Antonio Benabarre, Susanne Bengesser, Abesh Kumar Bhattacharjee, Joanna M. Biernacka, Armin Birner, Micah Cearns, Pablo Cervantes, Hsi-Chung Chen, Caterina Chillotti, Sven Cichon, Scott R. Clark, Francesc Colom, Cristiana Cruceanu, Piotr M. Czerski, Nina Dalkner, Franziska Degenhardt, Maria Del Zompo, J. Raymond DePaulo, Bruno Etain, Peter Falkai, Ewa Ferensztajn-Rochowiak, Andreas J. Forstner, Josef Frank, Louise Frisén, Mark A. Frye, Janice M. Fullerton, Carla Gallo, Sébastien Gard, Julie S. Garnham, Fernando S. Goes, Maria Grigoroiu-Serbanescu, Paul Grof, Ryota Hashimoto, Roland Hasler, Joanna Hauser, Urs Heilbronner, Stefan Herms, Per Hoffmann, Liping Hou, Yi-Hsiang Hsu, Stephane Jamain, Esther Jiménez, Jean-Pierre Kahn, Layla Kassem, Tadafumi Kato, John Kelsoe, Sarah Kittel-Schneider, Po-Hsiu Kuo, Ichiro Kusumi, Barbara König, Gonzalo Laje, Mikael Landén, Catharina Lavebratt, Marion Leboyer, Susan G. Leckband, Mario Maj, Mirko Manchia, Cynthia Marie-Claire, Lina Martinsson, Michael J. McCarthy, Susan L. McElroy, Vincent Millischer, Marina Mitjans, Francis M. Mondimore, Palmiero Monteleone, Caroline M. Nievergelt, Tomas Novák, Markus M. Nöthen, Claire O’Donovan, Norio Ozaki, Sergi Papiol, Andrea Pfennig, Claudia Pisanu, James B. Potash, Andreas Reif, Eva Reininghaus, Hélène Richard-Lepouriel, Gloria Roberts, Guy A. Rouleau, Janusz K. Rybakowski, Martin Schalling, Peter R. Schofield, Klaus Oliver Schubert, Eva C. Schulte, Barbara W. Schweizer, Giovanni Severino, Tatyana Shekhtman, Paul D. Shilling, Katzutaka Shimoda, Christian Simhandl, Claire M. Slaney, Alessio Squassina, Thomas Stamm, Pavla Stopkova, Fabian Streit, Fasil Tekola-Ayele, Anbupalam Thalamuthu, Alfonso Tortorella, Gustavo Turecki, Julia Veeh, Eduard Vieta, Biju Viswanath, Stephanie H. Witt, Peter P. Zandi, Martin Alda, Michael Bauer, Francis J. McMahon, Philip B. Mitchell, Marcella Rietschel, Thomas G. Schulze, and Bernhard T. Baune
Subjects: Bipolar disorder, Lithium treatment, Psychiatric symptoms, Comorbidity, Genetics, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurophysiology and neuropsychology, QP351-495
Abstract: Abstract Background Lithium (Li) remains the treatment of choice for bipolar disorders (BP). Its mood-stabilizing effects help reduce the long-term burden of mania, depression and suicide risk in patients with BP. It also has been shown to have beneficial effects on disease-associated conditions, including sleep and cardiovascular disorders. However, the individual responses to Li treatment vary within and between diagnostic subtypes of BP (e.g. BP-I and BP-II) according to the clinical presentation. Moreover, long-term Li treatment has been linked to adverse side-effects that are a cause of concern and non-adherence, including the risk of developing chronic medical conditions such as thyroid and renal disease. In recent years, studies by the Consortium on Lithium Genetics (ConLiGen) have uncovered a number of genetic factors that contribute to the variability in Li treatment response in patients with BP. Here, we leveraged the ConLiGen cohort (N = 2064) to investigate the genetic basis of Li effects in BP. For this, we studied how Li response and linked genes associate with the psychiatric symptoms and polygenic load for medical comorbidities, placing particular emphasis on identifying differences between BP-I and BP-II. Results We found that clinical response to Li treatment, measured with the Alda scale, was associated with a diminished burden of mania, depression, substance and alcohol abuse, psychosis and suicidal ideation in patients with BP-I and, in patients with BP-II, of depression only. Our genetic analyses showed that a stronger clinical response to Li was modestly related to lower polygenic load for diabetes and hypertension in BP-I but not BP-II. Moreover, our results suggested that a number of genes that have been previously linked to Li response variability in BP differentially relate to the psychiatric symptomatology, particularly to the numbers of manic and depressive episodes, and to the polygenic load for comorbid conditions, including diabetes, hypertension and hypothyroidism. Conclusions Taken together, our findings suggest that the effects of Li on symptomatology and comorbidity in BP are partially modulated by common genetic factors, with differential effects between BP-I and BP-II.
Published: 2024
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3. Open access repository-scale propagated nearest neighbor suspect spectral library for untargeted metabolomics

Author: Wout Bittremieux, Nicole E. Avalon, Sydney P. Thomas, Sarvar A. Kakhkhorov, Alexander A. Aksenov, Paulo Wender P. Gomes, Christine M. Aceves, Andrés Mauricio Caraballo-Rodríguez, Julia M. Gauglitz, William H. Gerwick, Tao Huan, Alan K. Jarmusch, Rima F. Kaddurah-Daouk, Kyo Bin Kang, Hyun Woo Kim, Todor Kondić, Helena Mannochio-Russo, Michael J. Meehan, Alexey V. Melnik, Louis-Felix Nothias, Claire O’Donovan, Morgan Panitchpakdi, Daniel Petras, Robin Schmid, Emma L. Schymanski, Justin J. J. van der Hooft, Kelly C. Weldon, Heejung Yang, Shipei Xing, Jasmine Zemlin, Mingxun Wang, and Pieter C. Dorrestein
Subjects: Science
Abstract: Abstract Despite the increasing availability of tandem mass spectrometry (MS/MS) community spectral libraries for untargeted metabolomics over the past decade, the majority of acquired MS/MS spectra remain uninterpreted. To further aid in interpreting unannotated spectra, we created a nearest neighbor suspect spectral library, consisting of 87,916 annotated MS/MS spectra derived from hundreds of millions of MS/MS spectra originating from published untargeted metabolomics experiments. Entries in this library, or “suspects,” were derived from unannotated spectra that could be linked in a molecular network to an annotated spectrum. Annotations were propagated to unknowns based on structural relationships to reference molecules using MS/MS-based spectrum alignment. We demonstrate the broad relevance of the nearest neighbor suspect spectral library through representative examples of propagation-based annotation of acylcarnitines, bacterial and plant natural products, and drug metabolism. Our results also highlight how the library can help to better understand an Alzheimer’s brain phenotype. The nearest neighbor suspect spectral library is openly available for download or for data analysis through the GNPS platform to help investigators hypothesize candidate structures for unknown MS/MS spectra in untargeted metabolomics data.
Published: 2023
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4. Differential characteristics of bipolar I and II disorders: a retrospective, cross-sectional evaluation of clinical features, illness course, and response to treatment

Author: Giulio Emilio Brancati, Abraham Nunes, Katie Scott, Claire O’Donovan, Pablo Cervantes, Paul Grof, and Martin Alda
Subjects: Bipolar disorder, Bipolar disorder type I, Bipolar disorder type II, Age at onset, Family history, Clinical course, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurophysiology and neuropsychology, QP351-495
Abstract: Abstract Background The distinction between bipolar I and bipolar II disorder and its treatment implications have been a matter of ongoing debate. The aim of this study was to examine differences between patients with bipolar I and II disorders with particular emphasis on the early phases of the disorders. Methods 808 subjects diagnosed with bipolar I (N = 587) or bipolar II disorder (N = 221) according to DSM-IV criteria were recruited between April 1994 and March 2022 from tertiary-level mood disorder clinics. Sociodemographic and clinical variables concerning psychiatric and medical comorbidities, family history, illness course, suicidal behavior, and response to treatment were compared between the bipolar disorder types. Results Bipolar II disorder patients were more frequently women, older, married or widowed. Bipolar II disorder was associated with later “bipolar” presentation, higher age at first (hypo)mania and treatment, less frequent referral after a single episode, and more episodes before lithium treatment. A higher proportion of first-degree relatives of bipolar II patients were affected by major depression and anxiety disorders. The course of bipolar II disorder was typically characterized by depressive onset, early depressive episodes, multiple depressive recurrences, and depressive predominant polarity; less often by (hypo)mania or (hypo)mania-depression cycles at onset or during the early course. The lifetime clinical course was more frequently rated as chronic fluctuating than episodic. More patients with bipolar II disorder had a history of rapid cycling and/or high number of episodes. Mood stabilizers and antipsychotics were prescribed less frequently during the early course of bipolar II disorder, while antidepressants were more common. We found no differences in global functioning, lifetime suicide attempts, family history of suicide, age at onset of mood disorders and depressive episodes, and lithium response. Conclusions Differences between bipolar I and II disorders are not limited to the severity of (hypo)manic syndromes but include patterns of clinical course and family history. Caution in the use of potentially mood-destabilizing agents is warranted during the early course of bipolar II disorder.
Published: 2023
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5. Exploratory study of ultraviolet B (UVB) radiation and age of onset of bipolar disorder

Author: Michael Bauer, Tasha Glenn, Eric D. Achtyes, Martin Alda, Esen Agaoglu, Kürsat Altınbaş, Ole A. Andreassen, Elias Angelopoulos, Raffaella Ardau, Memduha Aydin, Yavuz Ayhan, Christopher Baethge, Rita Bauer, Bernhard T. Baune, Ceylan Balaban, Claudia Becerra-Palars, Aniruddh P. Behere, Prakash B. Behere, Habte Belete, Tilahun Belete, Gabriel Okawa Belizario, Frank Bellivier, Robert H. Belmaker, Francesco Benedetti, Michael Berk, Yuly Bersudsky, Şule Bicakci, Harriet Birabwa-Oketcho, Thomas D. Bjella, Conan Brady, Jorge Cabrera, Marco Cappucciati, Angela Marianne Paredes Castro, Wei-Ling Chen, Eric Y. W. Cheung, Silvia Chiesa, Marie Crowe, Alessandro Cuomo, Sara Dallaspezia, Maria Del Zompo, Pratikkumar Desai, Seetal Dodd, Bruno Etain, Andrea Fagiolini, Frederike T. Fellendorf, Ewa Ferensztajn-Rochowiak, Jess G. Fiedorowicz, Kostas N. Fountoulakis, Mark A. Frye, Pierre A. Geoffroy, Michael J. Gitlin, Ana Gonzalez-Pinto, John F. Gottlieb, Paul Grof, Bartholomeus C. M. Haarman, Hirohiko Harima, Mathias Hasse-Sousa, Chantal Henry, Lone Hoffding, Josselin Houenou, Massimiliano Imbesi, Erkki T. Isometsä, Maja Ivkovic, Sven Janno, Simon Johnsen, Flávio Kapczinski, Gregory N. Karakatsoulis, Mathias Kardell, Lars Vedel Kessing, Seong Jae Kim, Barbara König, Timur L. Kot, Michael Koval, Mauricio Kunz, Beny Lafer, Mikael Landén, Erik R. Larsen, Melanie Lenger, Rasmus W. Licht, Carlos Lopez-Jaramillo, Alan MacKenzie, Helle Østergaard Madsen, Simone Alberte Kongstad A. Madsen, Jayant Mahadevan, Agustine Mahardika, Mirko Manchia, Wendy Marsh, Monica Martinez-Cengotitabengoa, Julia Martini, Klaus Martiny, Yuki Mashima, Declan M. McLoughlin, Ybe Meesters, Ingrid Melle, Fátima Meza-Urzúa, Pavol Mikolas, Yee Ming Mok, Scott Monteith, Muthukumaran Moorthy, Gunnar Morken, Enrica Mosca, Anton A. Mozzhegorov, Rodrigo Munoz, Starlin V. Mythri, Fethi Nacef, Ravi K. Nadella, Takako Nakanotani, René Ernst Nielsen, Claire O’Donovan, Adel Omrani, Yamima Osher, Uta Ouali, Maja Pantovic-Stefanovic, Pornjira Pariwatcharakul, Joanne Petite, Johannes Petzold, Andrea Pfennig, Yolanda Pica Ruiz, Marco Pinna, Maurizio Pompili, Richard J. Porter, Danilo Quiroz, Francisco Diego Rabelo-da-Ponte, Raj Ramesar, Natalie Rasgon, Woraphat Ratta-apha, Michaela Ratzenhofer, Maria Redahan, M. S. Reddy, Andreas Reif, Eva Z. Reininghaus, Jenny Gringer Richards, Philipp Ritter, Janusz K. Rybakowski, Leela Sathyaputri, Angela M. Scippa, Christian Simhandl, Daniel Smith, José Smith, Paul W. Stackhouse, Dan J. Stein, Kellen Stilwell, Sergio Strejilevich, Kuan-Pin Su, Mythily Subramaniam, Ahmad Hatim Sulaiman, Kirsi Suominen, Andi J. Tanra, Yoshitaka Tatebayashi, Wen Lin Teh, Leonardo Tondo, Carla Torrent, Daniel Tuinstra, Takahito Uchida, Arne E. Vaaler, Eduard Vieta, Biju Viswanath, Maria Yoldi-Negrete, Oguz Kaan Yalcinkaya, Allan H. Young, Yosra Zgueb, and Peter C. Whybrow
Subjects: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurophysiology and neuropsychology, QP351-495
Abstract: Abstract Background Sunlight contains ultraviolet B (UVB) radiation that triggers the production of vitamin D by skin. Vitamin D has widespread effects on brain function in both developing and adult brains. However, many people live at latitudes (about > 40 N or S) that do not receive enough UVB in winter to produce vitamin D. This exploratory study investigated the association between the age of onset of bipolar I disorder and the threshold for UVB sufficient for vitamin D production in a large global sample. Methods Data for 6972 patients with bipolar I disorder were obtained at 75 collection sites in 41 countries in both hemispheres. The best model to assess the relation between the threshold for UVB sufficient for vitamin D production and age of onset included 1 or more months below the threshold, family history of mood disorders, and birth cohort. All coefficients estimated at P ≤ 0.001. Results The 6972 patients had an onset in 582 locations in 70 countries, with a mean age of onset of 25.6 years. Of the onset locations, 34.0% had at least 1 month below the threshold for UVB sufficient for vitamin D production. The age of onset at locations with 1 or more months of less than or equal to the threshold for UVB was 1.66 years younger. Conclusion UVB and vitamin D may have an important influence on the development of bipolar disorder. Study limitations included a lack of data on patient vitamin D levels, lifestyles, or supplement use. More study of the impacts of UVB and vitamin D in bipolar disorder is needed to evaluate this supposition.
Published: 2023
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6. Combining schizophrenia and depression polygenic risk scores improves the genetic prediction of lithium response in bipolar disorder patients

Author: Klaus Oliver Schubert, Anbupalam Thalamuthu, Azmeraw T. Amare, Joseph Frank, Fabian Streit, Mazda Adl, Nirmala Akula, Kazufumi Akiyama, Raffaella Ardau, Bárbara Arias, Jean-Michel Aubry, Lena Backlund, Abesh Kumar Bhattacharjee, Frank Bellivier, Antonio Benabarre, Susanne Bengesser, Joanna M. Biernacka, Armin Birner, Cynthia Marie-Claire, Micah Cearns, Pablo Cervantes, Hsi-Chung Chen, Caterina Chillotti, Sven Cichon, Scott R. Clark, Cristiana Cruceanu, Piotr M. Czerski, Nina Dalkner, Alexandre Dayer, Franziska Degenhardt, Maria Del Zompo, J. Raymond DePaulo, Bruno Étain, Peter Falkai, Andreas J. Forstner, Louise Frisen, Mark A. Frye, Janice M. Fullerton, Sébastien Gard, Julie S. Garnham, Fernando S. Goes, Maria Grigoroiu-Serbanescu, Paul Grof, Ryota Hashimoto, Joanna Hauser, Urs Heilbronner, Stefan Herms, Per Hoffmann, Liping Hou, Yi-Hsiang Hsu, Stephane Jamain, Esther Jiménez, Jean-Pierre Kahn, Layla Kassem, Po-Hsiu Kuo, Tadafumi Kato, John Kelsoe, Sarah Kittel-Schneider, Ewa Ferensztajn-Rochowiak, Barbara König, Ichiro Kusumi, Gonzalo Laje, Mikael Landén, Catharina Lavebratt, Marion Leboyer, Susan G. Leckband, Mario Maj, Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium, Mirko Manchia, Lina Martinsson, Michael J. McCarthy, Susan McElroy, Francesc Colom, Marina Mitjans, Francis M. Mondimore, Palmiero Monteleone, Caroline M. Nievergelt, Markus M. Nöthen, Tomas Novák, Claire O’Donovan, Norio Ozaki, Urban Ösby, Sergi Papiol, Andrea Pfennig, Claudia Pisanu, James B. Potash, Andreas Reif, Eva Reininghaus, Guy A. Rouleau, Janusz K. Rybakowski, Martin Schalling, Peter R. Schofield, Barbara W. Schweizer, Giovanni Severino, Tatyana Shekhtman, Paul D. Shilling, Katzutaka Shimoda, Christian Simhandl, Claire M. Slaney, Alessio Squassina, Thomas Stamm, Pavla Stopkova, Fasil Tekola-Ayele, Alfonso Tortorella, Gustavo Turecki, Julia Veeh, Eduard Vieta, Stephanie H. Witt, Gloria Roberts, Peter P. Zandi, Martin Alda, Michael Bauer, Francis J. McMahon, Philip B. Mitchell, Thomas G. Schulze, Marcella Rietschel, and Bernhard T. Baune
Subjects: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
Abstract: Abstract Lithium is the gold standard therapy for Bipolar Disorder (BD) but its effectiveness differs widely between individuals. The molecular mechanisms underlying treatment response heterogeneity are not well understood, and personalized treatment in BD remains elusive. Genetic analyses of the lithium treatment response phenotype may generate novel molecular insights into lithium’s therapeutic mechanisms and lead to testable hypotheses to improve BD management and outcomes. We used fixed effect meta-analysis techniques to develop meta-analytic polygenic risk scores (MET-PRS) from combinations of highly correlated psychiatric traits, namely schizophrenia (SCZ), major depression (MD) and bipolar disorder (BD). We compared the effects of cross-disorder MET-PRS and single genetic trait PRS on lithium response. For the PRS analyses, we included clinical data on lithium treatment response and genetic information for n = 2283 BD cases from the International Consortium on Lithium Genetics (ConLi+Gen; www.ConLiGen.org ). Higher SCZ and MD PRSs were associated with poorer lithium treatment response whereas BD-PRS had no association with treatment outcome. The combined MET2-PRS comprising of SCZ and MD variants (MET2-PRS) and a model using SCZ and MD-PRS sequentially improved response prediction, compared to single-disorder PRS or to a combined score using all three traits (MET3-PRS). Patients in the highest decile for MET2-PRS loading had 2.5 times higher odds of being classified as poor responders than patients with the lowest decile MET2-PRS scores. An exploratory functional pathway analysis of top MET2-PRS variants was conducted. Findings may inform the development of future testing strategies for personalized lithium prescribing in BD.
Published: 2021
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7. The growing need for controlled data access models in clinical proteomics and metabolomics

Author: Thomas M. Keane, Claire O’Donovan, and Juan Antonio Vizcaíno
Subjects: Science
Abstract: More and more clinical studies include potentially sensitive human proteomics or metabolomics datasets, but bioinformatics resources for managing the access to these data are not yet available. This commentary discusses current best practices and future perspectives for the responsible handling of clinical proteomics and metabolomics data.
Published: 2021
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8. Early onset tardive syndromes associated with Lurasidone in patients with mood disorders: A case series and literature review

Author: Aditya Nidumolu, Anthony Pianosi, and Claire O'Donovan
Subjects: Tardive syndrome, Dyskinesia, Mood disorder, Lurasidone, Mental healing, RZ400-408
Abstract: Background: Tardive syndromes are a group of movement disorders that typically occur following chronic exposure to Dopamine D2 receptor antagonists. Rarely, these syndromes may occur in less than six months following the initiation of a causative medication. Owing to Lurasidone's recent introduction to the North American market, there is limited literature on its association with tardive syndromes. Methods: We describe three cases with mood disorders prospectively and systematically followed for tardive syndromes on Lurasidone and present a literature review of existing data on tardive syndromes associated with Lurasidone in patients with mood disorders. Results: These three cases all developed tardive syndromes before three months. A single previously published case series included cases of early-onset tardive syndromes following lurasidone use. Limitations: This is an open case series in a single academic practice focused on mood disorders. There is limited data in the literature for comparison. Discussion: Lurasidone's common use in patients with vulnerabilities to developing tardive syndromes, such as those with mood disorders, may be an area for clinical concern. Clinicians should strongly consider earlier screening for tardive syndromes in patients with appropriate risk factors.
Published: 2022
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9. Variations in seasonal solar insolation are associated with a history of suicide attempts in bipolar I disorder

Author: Michael Bauer, Tasha Glenn, Eric D. Achtyes, Martin Alda, Esen Agaoglu, Kürşat Altınbaş, Ole A. Andreassen, Elias Angelopoulos, Raffaella Ardau, Edgar Arrua Vares, Memduha Aydin, Yavuz Ayhan, Christopher Baethge, Rita Bauer, Bernhard T. Baune, Ceylan Balaban, Claudia Becerra-Palars, Aniruddh P. Behere, Prakash B. Behere, Habte Belete, Tilahun Belete, Gabriel Okawa Belizario, Frank Bellivier, Robert H. Belmaker, Francesco Benedetti, Michael Berk, Yuly Bersudsky, Şule Bicakci, Harriet Birabwa-Oketcho, Thomas D. Bjella, Conan Brady, Jorge Cabrera, Marco Cappucciati, Angela Marianne Paredes Castro, Wei-Ling Chen, Eric Y. Wo Cheung, Silvia Chiesa, Marie Crowe, Alessandro Cuomo, Sara Dallaspezia, Maria Del Zompo, Pratikkumar Desai, Seetal Dodd, Markus Donix, Bruno Etain, Andrea Fagiolini, Frederike T. Fellendorf, Ewa Ferensztajn-Rochowiak, Jess G. Fiedorowicz, Kostas N. Fountoulakis, Mark A. Frye, Pierre A. Geoffroy, Ana Gonzalez-Pinto, John F. Gottlieb, Paul Grof, Bartholomeus C. M. Haarman, Hirohiko Harima, Mathias Hasse-Sousa, Chantal Henry, Lone Høffding, Josselin Houenou, Massimiliano Imbesi, Erkki T. Isometsä, Maja Ivkovic, Sven Janno, Simon Johnsen, Flávio Kapczinski, Gregory N. Karakatsoulis, Mathias Kardell, Lars Vedel Kessing, Seong Jae Kim, Barbara König, Timur L. Kot, Michael Koval, Mauricio Kunz, Beny Lafer, Mikael Landén, Erik R. Larsen, Melanie Lenger, Ute Lewitzka, Rasmus W. Licht, Carlos Lopez-Jaramillo, Alan MacKenzie, Helle Østergaard Madsen, Simone Alberte Kongstad A. Madsen, Jayant Mahadevan, Agustine Mahardika, Mirko Manchia, Wendy Marsh, Monica Martinez-Cengotitabengoa, Klaus Martiny, Yuki Mashima, Declan M. McLoughlin, Ybe Meesters, Ingrid Melle, Fátima Meza-Urzúa, Mok Yee Ming, Scott Monteith, Muthukumaran Moorthy, Gunnar Morken, Enrica Mosca, Anton A. Mozzhegorov, Rodrigo Munoz, Starlin V. Mythri, Fethi Nacef, Ravi K. Nadella, Takako Nakanotani, René Ernst Nielsen, Claire O‘Donovan, Adel Omrani, Yamima Osher, Uta Ouali, Maja Pantovic-Stefanovic, Pornjira Pariwatcharakul, Joanne Petite, Andrea Pfennig, Yolanda Pica Ruiz, Maximilian Pilhatsch, Marco Pinna, Maurizio Pompili, Richard Porter, Danilo Quiroz, Francisco Diego Rabelo-da-Ponte, Raj Ramesar, Natalie Rasgon, Woraphat Ratta-apha, Michaela Ratzenhofer, Maria Redahan, M. S. Reddy, Andreas Reif, Eva Z. Reininghaus, Jenny Gringer Richards, Philipp Ritter, Janusz K. Rybakowski, Leela Sathyaputri, Ângela M. Scippa, Christian Simhandl, Emanuel Severus, Daniel Smith, José Smith, Paul W. Stackhouse, Dan J. Stein, Kellen Stilwell, Sergio Strejilevich, Kuan-Pin Su, Mythily Subramaniam, Ahmad Hatim Sulaiman, Kirsi Suominen, Andi J. Tanra, Yoshitaka Tatebayashi, Wen Lin Teh, Leonardo Tondo, Carla Torrent, Daniel Tuinstra, Takahito Uchida, Arne E. Vaaler, Julia Veeh, Eduard Vieta, Biju Viswanath, Maria Yoldi-Negrete, Oguz Kaan Yalcinkaya, Allan H. Young, Yosra Zgueb, and Peter C. Whybrow
Subjects: Bipolar disorder, Suicide, Sunlight, Solar insolation, Psychiatry, Circadian, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurophysiology and neuropsychology, QP351-495
Abstract: Abstract Background Bipolar disorder is associated with circadian disruption and a high risk of suicidal behavior. In a previous exploratory study of patients with bipolar I disorder, we found that a history of suicide attempts was associated with differences between winter and summer levels of solar insolation. The purpose of this study was to confirm this finding using international data from 42% more collection sites and 25% more countries. Methods Data analyzed were from 71 prior and new collection sites in 40 countries at a wide range of latitudes. The analysis included 4876 patients with bipolar I disorder, 45% more data than previously analyzed. Of the patients, 1496 (30.7%) had a history of suicide attempt. Solar insolation data, the amount of the sun’s electromagnetic energy striking the surface of the earth, was obtained for each onset location (479 locations in 64 countries). Results This analysis confirmed the results of the exploratory study with the same best model and slightly better statistical significance. There was a significant inverse association between a history of suicide attempts and the ratio of mean winter insolation to mean summer insolation (mean winter insolation/mean summer insolation). This ratio is largest near the equator which has little change in solar insolation over the year, and smallest near the poles where the winter insolation is very small compared to the summer insolation. Other variables in the model associated with an increased risk of suicide attempts were a history of alcohol or substance abuse, female gender, and younger birth cohort. The winter/summer insolation ratio was also replaced with the ratio of minimum mean monthly insolation to the maximum mean monthly insolation to accommodate insolation patterns in the tropics, and nearly identical results were found. All estimated coefficients were significant at p
Published: 2021
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10. HLA-DRB1 and HLA-DQB1 genetic diversity modulates response to lithium in bipolar affective disorders

Author: Sigrid Le Clerc, Laura Lombardi, Bernhard T. Baune, Azmeraw T. Amare, Klaus Oliver Schubert, Liping Hou, Scott R. Clark, Sergi Papiol, Micah Cearns, Urs Heilbronner, Franziska Degenhardt, Fasil Tekola-Ayele, Yi-Hsiang Hsu, Tatyana Shekhtman, Mazda Adli, Nirmala Akula, Kazufumi Akiyama, Raffaella Ardau, Bárbara Arias, Jean-Michel Aubry, Lena Backlund, Abesh Kumar Bhattacharjee, Frank Bellivier, Antonio Benabarre, Susanne Bengesser, Joanna M. Biernacka, Armin Birner, Clara Brichant-Petitjean, Pablo Cervantes, Hsi-Chung Chen, Caterina Chillotti, Sven Cichon, Cristiana Cruceanu, Piotr M. Czerski, Nina Dalkner, Alexandre Dayer, Maria Del Zompo, J. Raymond DePaulo, Bruno Étain, Stephane Jamain, Peter Falkai, Andreas J. Forstner, Louise Frisen, Mark A. Frye, Janice M. Fullerton, Sébastien Gard, Julie S. Garnham, Fernando S. Goes, Maria Grigoroiu-Serbanescu, Paul Grof, Ryota Hashimoto, Joanna Hauser, Stefan Herms, Per Hoffmann, Esther Jiménez, Jean-Pierre Kahn, Layla Kassem, Po-Hsiu Kuo, Tadafumi Kato, John R. Kelsoe, Sarah Kittel-Schneider, Ewa Ferensztajn-Rochowiak, Barbara König, Ichiro Kusumi, Gonzalo Laje, Mikael Landén, Catharina Lavebratt, Susan G. Leckband, Alfonso Tortorella, Mirko Manchia, Lina Martinsson, Michael J. McCarthy, Susan L. McElroy, Francesc Colom, Vincent Millischer, Marina Mitjans, Francis M. Mondimore, Palmiero Monteleone, Caroline M. Nievergelt, Markus M. Nöthen, Tomas Novák, Claire O’Donovan, Norio Ozaki, Urban Ösby, Andrea Pfennig, James B. Potash, Andreas Reif, Eva Reininghaus, Guy A. Rouleau, Janusz K. Rybakowski, Martin Schalling, Peter R. Schofield, Barbara W. Schweizer, Giovanni Severino, Paul D. Shilling, Katzutaka Shimoda, Christian Simhandl, Claire M. Slaney, Claudia Pisanu, Alessio Squassina, Thomas Stamm, Pavla Stopkova, Mario Maj, Gustavo Turecki, Eduard Vieta, Julia Veeh, Stephanie H. Witt, Adam Wright, Peter P. Zandi, Philip B. Mitchell, Michael Bauer, Martin Alda, Marcella Rietschel, Francis J. McMahon, Thomas G. Schulze, Jean-Louis Spadoni, Wahid Boukouaci, Jean-Romain Richard, Philippe Le Corvoisier, Caroline Barrau, Jean-François Zagury, Marion Leboyer, and Ryad Tamouza
Subjects: Medicine, Science
Abstract: Abstract Bipolar affective disorder (BD) is a severe psychiatric illness, for which lithium (Li) is the gold standard for acute and maintenance therapies. The therapeutic response to Li in BD is heterogeneous and reliable biomarkers allowing patients stratification are still needed. A GWAS performed by the International Consortium on Lithium Genetics (ConLiGen) has recently identified genetic markers associated with treatment responses to Li in the human leukocyte antigens (HLA) region. To better understand the molecular mechanisms underlying this association, we have genetically imputed the classical alleles of the HLA region in the European patients of the ConLiGen cohort. We found our best signal for amino-acid variants belonging to the HLA-DRB1*11:01 classical allele, associated with a better response to Li (p
Published: 2021
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11. Prediction of lithium response using genomic data

Author: William Stone, Abraham Nunes, Kazufumi Akiyama, Nirmala Akula, Raffaella Ardau, Jean-Michel Aubry, Lena Backlund, Michael Bauer, Frank Bellivier, Pablo Cervantes, Hsi-Chung Chen, Caterina Chillotti, Cristiana Cruceanu, Alexandre Dayer, Franziska Degenhardt, Maria Del Zompo, Andreas J. Forstner, Mark Frye, Janice M. Fullerton, Maria Grigoroiu-Serbanescu, Paul Grof, Ryota Hashimoto, Liping Hou, Esther Jiménez, Tadafumi Kato, John Kelsoe, Sarah Kittel-Schneider, Po-Hsiu Kuo, Ichiro Kusumi, Catharina Lavebratt, Mirko Manchia, Lina Martinsson, Manuel Mattheisen, Francis J. McMahon, Vincent Millischer, Philip B. Mitchell, Markus M. Nöthen, Claire O’Donovan, Norio Ozaki, Claudia Pisanu, Andreas Reif, Marcella Rietschel, Guy Rouleau, Janusz Rybakowski, Martin Schalling, Peter R. Schofield, Thomas G. Schulze, Giovanni Severino, Alessio Squassina, Julia Veeh, Eduard Vieta, Thomas Trappenberg, and Martin Alda
Subjects: Medicine, Science
Abstract: Abstract Predicting lithium response prior to treatment could both expedite therapy and avoid exposure to side effects. Since lithium responsiveness may be heritable, its predictability based on genomic data is of interest. We thus evaluate the degree to which lithium response can be predicted with a machine learning (ML) approach using genomic data. Using the largest existing genomic dataset in the lithium response literature (n = 2210 across 14 international sites; 29% responders), we evaluated the degree to which lithium response could be predicted based on 47,465 genotyped single nucleotide polymorphisms using a supervised ML approach. Under appropriate cross-validation procedures, lithium response could be predicted to above-chance levels in two constituent sites (Halifax, Cohen’s kappa 0.15, 95% confidence interval, CI [0.07, 0.24]; and Würzburg, kappa 0.2 [0.1, 0.3]). Variants with shared importance in these models showed over-representation of postsynaptic membrane related genes. Lithium response was not predictable in the pooled dataset (kappa 0.02 [− 0.01, 0.04]), although non-trivial performance was achieved within a restricted dataset including only those patients followed prospectively (kappa 0.09 [0.04, 0.14]). Genomic classification of lithium response remains a promising but difficult task. Classification performance could potentially be improved by further harmonization of data collection procedures.
Published: 2021
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12. Exemplar scoring identifies genetically separable phenotypes of lithium responsive bipolar disorder

Author: Abraham Nunes, William Stone, Raffaella Ardau, Anne Berghöfer, Alberto Bocchetta, Caterina Chillotti, Valeria Deiana, Franziska Degenhardt, Andreas J. Forstner, Julie S. Garnham, Eva Grof, Tomas Hajek, Mirko Manchia, Manuel Mattheisen, Francis McMahon, Bruno Müller-Oerlinghausen, Markus M. Nöthen, Marco Pinna, Claudia Pisanu, Claire O’Donovan, Marcella D. C. Rietschel, Guy Rouleau, Thomas Schulze, Giovanni Severino, Claire M. Slaney, Alessio Squassina, Aleksandra Suwalska, Gustavo Turecki, Rudolf Uher, Petr Zvolsky, Pablo Cervantes, Maria del Zompo, Paul Grof, Janusz Rybakowski, Leonardo Tondo, Thomas Trappenberg, and Martin Alda
Subjects: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
Abstract: Abstract Predicting lithium response (LiR) in bipolar disorder (BD) may inform treatment planning, but phenotypic heterogeneity complicates discovery of genomic markers. We hypothesized that patients with “exemplary phenotypes”—those whose clinical features are reliably associated with LiR and non-response (LiNR)—are more genetically separable than those with less exemplary phenotypes. Using clinical data collected from people with BD (n = 1266 across 7 centers; 34.7% responders), we computed a “clinical exemplar score,” which measures the degree to which a subject’s clinical phenotype is reliably predictive of LiR/LiNR. For patients whose genotypes were available (n = 321), we evaluated whether a subgroup of responders/non-responders with the top 25% of clinical exemplar scores (the “best clinical exemplars”) were more accurately classified based on genetic data, compared to a subgroup with the lowest 25% of clinical exemplar scores (the “poor clinical exemplars”). On average, the best clinical exemplars of LiR had a later illness onset, completely episodic clinical course, absence of rapid cycling and psychosis, and few psychiatric comorbidities. The best clinical exemplars of LiR and LiNR were genetically separable with an area under the receiver operating characteristic curve of 0.88 (IQR [0.83, 0.98]), compared to 0.66 [0.61, 0.80] (p = 0.0032) among poor clinical exemplars. Variants in the Alzheimer’s amyloid–secretase pathway, along with G-protein-coupled receptor, muscarinic acetylcholine, and histamine H1R signaling pathways were informative predictors. This study must be replicated on larger samples and extended to predict response to other mood stabilizers.
Published: 2021
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13. The CAFA challenge reports improved protein function prediction and new functional annotations for hundreds of genes through experimental screens

Author: Naihui Zhou, Yuxiang Jiang, Timothy R. Bergquist, Alexandra J. Lee, Balint Z. Kacsoh, Alex W. Crocker, Kimberley A. Lewis, George Georghiou, Huy N. Nguyen, Md Nafiz Hamid, Larry Davis, Tunca Dogan, Volkan Atalay, Ahmet S. Rifaioglu, Alperen Dalkıran, Rengul Cetin Atalay, Chengxin Zhang, Rebecca L. Hurto, Peter L. Freddolino, Yang Zhang, Prajwal Bhat, Fran Supek, José M. Fernández, Branislava Gemovic, Vladimir R. Perovic, Radoslav S. Davidović, Neven Sumonja, Nevena Veljkovic, Ehsaneddin Asgari, Mohammad R.K. Mofrad, Giuseppe Profiti, Castrense Savojardo, Pier Luigi Martelli, Rita Casadio, Florian Boecker, Heiko Schoof, Indika Kahanda, Natalie Thurlby, Alice C. McHardy, Alexandre Renaux, Rabie Saidi, Julian Gough, Alex A. Freitas, Magdalena Antczak, Fabio Fabris, Mark N. Wass, Jie Hou, Jianlin Cheng, Zheng Wang, Alfonso E. Romero, Alberto Paccanaro, Haixuan Yang, Tatyana Goldberg, Chenguang Zhao, Liisa Holm, Petri Törönen, Alan J. Medlar, Elaine Zosa, Itamar Borukhov, Ilya Novikov, Angela Wilkins, Olivier Lichtarge, Po-Han Chi, Wei-Cheng Tseng, Michal Linial, Peter W. Rose, Christophe Dessimoz, Vedrana Vidulin, Saso Dzeroski, Ian Sillitoe, Sayoni Das, Jonathan Gill Lees, David T. Jones, Cen Wan, Domenico Cozzetto, Rui Fa, Mateo Torres, Alex Warwick Vesztrocy, Jose Manuel Rodriguez, Michael L. Tress, Marco Frasca, Marco Notaro, Giuliano Grossi, Alessandro Petrini, Matteo Re, Giorgio Valentini, Marco Mesiti, Daniel B. Roche, Jonas Reeb, David W. Ritchie, Sabeur Aridhi, Seyed Ziaeddin Alborzi, Marie-Dominique Devignes, Da Chen Emily Koo, Richard Bonneau, Vladimir Gligorijević, Meet Barot, Hai Fang, Stefano Toppo, Enrico Lavezzo, Marco Falda, Michele Berselli, Silvio C.E. Tosatto, Marco Carraro, Damiano Piovesan, Hafeez Ur Rehman, Qizhong Mao, Shanshan Zhang, Slobodan Vucetic, Gage S. Black, Dane Jo, Erica Suh, Jonathan B. Dayton, Dallas J. Larsen, Ashton R. Omdahl, Liam J. McGuffin, Danielle A. Brackenridge, Patricia C. Babbitt, Jeffrey M. Yunes, Paolo Fontana, Feng Zhang, Shanfeng Zhu, Ronghui You, Zihan Zhang, Suyang Dai, Shuwei Yao, Weidong Tian, Renzhi Cao, Caleb Chandler, Miguel Amezola, Devon Johnson, Jia-Ming Chang, Wen-Hung Liao, Yi-Wei Liu, Stefano Pascarelli, Yotam Frank, Robert Hoehndorf, Maxat Kulmanov, Imane Boudellioua, Gianfranco Politano, Stefano Di Carlo, Alfredo Benso, Kai Hakala, Filip Ginter, Farrokh Mehryary, Suwisa Kaewphan, Jari Björne, Hans Moen, Martti E.E. Tolvanen, Tapio Salakoski, Daisuke Kihara, Aashish Jain, Tomislav Šmuc, Adrian Altenhoff, Asa Ben-Hur, Burkhard Rost, Steven E. Brenner, Christine A. Orengo, Constance J. Jeffery, Giovanni Bosco, Deborah A. Hogan, Maria J. Martin, Claire O’Donovan, Sean D. Mooney, Casey S. Greene, Predrag Radivojac, and Iddo Friedberg
Subjects: Protein function prediction, Long-term memory, Biofilm, Critical assessment, Community challenge, Biology (General), QH301-705.5, Genetics, QH426-470
Abstract: Abstract Background The Critical Assessment of Functional Annotation (CAFA) is an ongoing, global, community-driven effort to evaluate and improve the computational annotation of protein function. Results Here, we report on the results of the third CAFA challenge, CAFA3, that featured an expanded analysis over the previous CAFA rounds, both in terms of volume of data analyzed and the types of analysis performed. In a novel and major new development, computational predictions and assessment goals drove some of the experimental assays, resulting in new functional annotations for more than 1000 genes. Specifically, we performed experimental whole-genome mutation screening in Candida albicans and Pseudomonas aureginosa genomes, which provided us with genome-wide experimental data for genes associated with biofilm formation and motility. We further performed targeted assays on selected genes in Drosophila melanogaster, which we suspected of being involved in long-term memory. Conclusion We conclude that while predictions of the molecular function and biological process annotations have slightly improved over time, those of the cellular component have not. Term-centric prediction of experimental annotations remains equally challenging; although the performance of the top methods is significantly better than the expectations set by baseline methods in C. albicans and D. melanogaster, it leaves considerable room and need for improvement. Finally, we report that the CAFA community now involves a broad range of participants with expertise in bioinformatics, biological experimentation, biocuration, and bio-ontologies, working together to improve functional annotation, computational function prediction, and our ability to manage big data in the era of large experimental screens.
Published: 2019
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14. Correction: Combining schizophrenia and depression polygenic risk scores improves the genetic prediction of lithium response in bipolar disorder patients

Author: Klaus Oliver Schubert, Anbupalam Thalamuthu, Azmeraw T. Amare, Joseph Frank, Fabian Streit, Mazda Adl, Nirmala Akula, Kazufumi Akiyama, Raffaella Ardau, Bárbara Arias, Jean-Michel Aubry, Lena Backlund, Abesh Kumar Bhattacharjee, Frank Bellivier, Antonio Benabarre, Susanne Bengesser, Joanna M. Biernacka, Armin Birner, Cynthia Marie-Claire, Micah Cearns, Pablo Cervantes, Hsi-Chung Chen, Caterina Chillotti, Sven Cichon, Scott R. Clark, Cristiana Cruceanu, Piotr M. Czerski, Nina Dalkner, Alexandre Dayer, Franziska Degenhardt, Maria Del Zompo, J. Raymond DePaulo, Bruno Étain, Peter Falkai, Andreas J. Forstner, Louise Frisen, Mark A. Frye, Janice M. Fullerton, Sébastien Gard, Julie S. Garnham, Fernando S. Goes, Maria Grigoroiu-Serbanescu, Paul Grof, Ryota Hashimoto, Joanna Hauser, Urs Heilbronner, Stefan Herms, Per Hoffmann, Liping Hou, Yi-Hsiang Hsu, Stephane Jamain, Esther Jiménez, Jean-Pierre Kahn, Layla Kassem, Po-Hsiu Kuo, Tadafumi Kato, John Kelsoe, Sarah Kittel-Schneider, Ewa Ferensztajn-Rochowiak, Barbara König, Ichiro Kusumi, Gonzalo Laje, Mikael Landén, Catharina Lavebratt, Marion Leboyer, Susan G. Leckband, Mario Maj, Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium, Mirko Manchia, Lina Martinsson, Michael J. McCarthy, Susan McElroy, Francesc Colom, Marina Mitjans, Francis M. Mondimore, Palmiero Monteleone, Caroline M. Nievergelt, Markus M. Nöthen, Tomas Novák, Claire O’Donovan, Norio Ozaki, Urban Ösby, Sergi Papiol, Andrea Pfennig, Claudia Pisanu, James B. Potash, Andreas Reif, Eva Reininghaus, Guy A. Rouleau, Janusz K. Rybakowski, Martin Schalling, Peter R. Schofield, Barbara W. Schweizer, Giovanni Severino, Tatyana Shekhtman, Paul D. Shilling, Katzutaka Shimoda, Christian Simhandl, Claire M. Slaney, Alessio Squassina, Thomas Stamm, Pavla Stopkova, Fasil Tekola-Ayele, Alfonso Tortorella, Gustavo Turecki, Julia Veeh, Eduard Vieta, Stephanie H. Witt, Gloria Roberts, Peter P. Zandi, Martin Alda, Michael Bauer, Francis J. McMahon, Philip B. Mitchell, Thomas G. Schulze, Marcella Rietschel, and Bernhard T. Baune
Subjects: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
Published: 2022
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15. Depression Preceding Diagnosis of Bipolar Disorder

Author: Claire O'Donovan and Martin Alda
Subjects: bipolar disorder, family history (FH), early onset, mixed depression, staging, adverse response to antidepressants, Psychiatry, RC435-571
Abstract: This paper focuses on depression that precedes an onset of manifest bipolar disorder as early stage bipolar disorder. First, we review how to pragmatically identify the clinical characteristics of patients presenting with an episode of depression who subsequently go on to develop episodes of mania or hypomania. The existing literature shows a strong consensus: accurate identification of depression with early onset and recurrent course with multiple episodes, subthreshold hypomanic and/or mixed symptoms, and family history of bipolar disorder or completed suicide have been shown by multiple authors as signs pointing to bipolar diagnosis. This contrasts with relatively limited information available to guide management of such “pre-bipolar” (pre-declared bipolar) patients, especially those in the adult age range. Default assumption of unipolar depression at this stage carries significant risk. Antidepressants are still the most common pharmacological treatment used, but clinicians need to be aware of their potential harm. In some patients with unrecognized bipolar depression, antidepressants can not only produce switch to (hypo)mania, but also mixed symptoms, or worsening of depression with an increased risk of suicide. We review pragmatic management strategies in the literature beyond clinical guidelines that can be considered for this at-risk group encompassing the more recent child and adolescent literature. In the future, genetic research could make the early identification of bipolar depression easier by generating informative markers and polygenic risk scores.
Published: 2020
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16. Internet use by older adults with bipolar disorder: international survey results

Author: Rita Bauer, Tasha Glenn, Sergio Strejilevich, Jörn Conell, Martin Alda, Raffaella Ardau, Bernhard T. Baune, Michael Berk, Yuly Bersudsky, Amy Bilderbeck, Alberto Bocchetta, Angela M. Paredes Castro, Eric Y. W. Cheung, Caterina Chillotti, Sabine Choppin, Alessandro Cuomo, Maria Del Zompo, Rodrigo Dias, Seetal Dodd, Anne Duffy, Bruno Etain, Andrea Fagiolini, Miryam Fernández Hernandez, Julie Garnham, John Geddes, Jonas Gildebro, Michael J. Gitlin, Ana Gonzalez-Pinto, Guy M. Goodwin, Paul Grof, Hirohiko Harima, Stefanie Hassel, Chantal Henry, Diego Hidalgo-Mazzei, Anne Hvenegaard Lund, Vaisnvy Kapur, Girish Kunigiri, Beny Lafer, Erik R. Larsen, Ute Lewitzka, Rasmus W. Licht, Blazej Misiak, Patryk Piotrowski, Ângela Miranda-Scippa, Scott Monteith, Rodrigo Munoz, Takako Nakanotani, René E. Nielsen, Claire O’Donovan, Yasushi Okamura, Yamima Osher, Andreas Reif, Philipp Ritter, Janusz K. Rybakowski, Kemal Sagduyu, Brett Sawchuk, Elon Schwartz, Claire Slaney, Ahmad H. Sulaiman, Kirsi Suominen, Aleksandra Suwalska, Peter Tam, Yoshitaka Tatebayashi, Leonardo Tondo, Julia Veeh, Eduard Vieta, Maj Vinberg, Biju Viswanath, Mark Zetin, Peter C. Whybrow, and Michael Bauer
Subjects: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurophysiology and neuropsychology, QP351-495
Abstract: Abstract Background The world population is aging and the number of older adults with bipolar disorder is increasing. Digital technologies are viewed as a framework to improve care of older adults with bipolar disorder. This analysis quantifies Internet use by older adults with bipolar disorder as part of a larger survey project about information seeking. Methods A paper-based survey about information seeking by patients with bipolar disorder was developed and translated into 12 languages. The survey was anonymous and completed between March 2014 and January 2016 by 1222 patients in 17 countries. All patients were diagnosed by a psychiatrist. General estimating equations were used to account for correlated data. Results Overall, 47% of older adults (age 60 years or older) used the Internet versus 87% of younger adults (less than 60 years). More education and having symptoms that interfered with regular activities increased the odds of using the Internet, while being age 60 years or older decreased the odds. Data from 187 older adults and 1021 younger adults were included in the analysis excluding missing values. Conclusions Older adults with bipolar disorder use the Internet much less frequently than younger adults. Many older adults do not use the Internet, and technology tools are suitable for some but not all older adults. As more health services are only available online, and more digital tools are developed, there is concern about growing health disparities based on age. Mental health experts should participate in determining the appropriate role for digital tools for older adults with bipolar disorder.
Published: 2018
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17. Genetic Overlap Between Alzheimer’s Disease and Bipolar Disorder Implicates the MARK2 and VAC14 Genes

Author: Ole Kristian Drange, Olav Bjerkehagen Smeland, Alexey A. Shadrin, Per Ivar Finseth, Aree Witoelar, Oleksandr Frei, Psychiatric Genomics Consortium Bipolar Disorder Working Group, Yunpeng Wang, Sahar Hassani, Srdjan Djurovic, Anders M. Dale, Ole A. Andreassen, Eli A Stahl, Gerome Breen, Andreas J Forstner, Andrew McQuillin, Stephan Ripke, Vassily Trubetskoy, Manuel Mattheisen, Jonathan R I Coleman, Heìleìna A Gaspar, Christiaan A de Leeuw, Stacy Steinberg, Jennifer M Whitehead Pavlides, Maciej Trzaskowski, Tune H Pers, Peter A Holmans, Liam Abbott, Esben Agerbo, Huda Akil, Diego Albani, Ney Alliey-Rodriguez, Thomas D Als, Adebayo Anjorin, Verneri Antilla, Swapnil Awasthi, Judith A Badner, Marie Bækvad-Hansen, Jack D Barchas, Nicholas Bass, Michael Bauer, Richard Belliveau, Sarah E Bergen, Carsten Bøcker Pedersen, Erlend Bøen, Marco Boks, James Boocock, Monika Budde, William Bunney, Margit Burmeister, Jonas Bybjerg-Grauholm, William Byerley, Miquel Casas, Felecia Cerrato, Pablo Cervantes, Kimberly Chambert, Alexander W Charney, Danfeng Chen, Claire Churchhouse, Toni-Kim Clarke, William Coryell, David W Craig, Cristiana Cruceanu, David Curtis, Piotr M Czerski, Anders M Dale, Simone de Jong, Franziska Degenhardt, Jurgen Del-Favero, J Raymond DePaulo, Amanda L Dobbyn, Ashley Dumont, Torbjørn Elvsåshagen, Valentina Escott-Price, Chun Chieh Fan, Sascha B Fischer, Matthew Flickinger, Tatiana M Foroud, Liz Forty, Josef Frank, Christine Fraser, Nelson B Freimer, Louise Friseìn, Katrin Gade, Diane Gage, Julie Garnham, Claudia Giambartolomei, Marianne Giørtz Pedersen, Jaqueline Goldstein, Scott D Gordon, Katherine Gordon-Smith, Elaine K Green, Melissa J Green, Tiffany A Greenwood, Jakob Grove, Weihua Guan, Joseì Guzman Parra, Marian L Hamshere, Martin Hautzinger, Urs Heilbronner, Stefan Herms, Maria Hipolito, Per Hoffmann, Dominic Holland, Laura Huckins, Steìphane Jamain, Jessica S Johnson, Anders Jureìus, Radhika Kandaswamy, Robert Karlsson, James L Kennedy, Sarah Kittel-Schneider, Sarah V Knott, James A Knowles, Manolis Kogevinas, Anna C Koller, Ralph Kupka, Catharina Lavebratt, Jacob Lawrence, William B Lawson, Markus Leber, Phil H Lee, Shawn E Levy, Jun Z Li, Chunyu Liu, Susanne Lucae, Anna Maaser, Donald J MacIntyre, Pamela B Mahon, Wolfgang Maier, Lina Martinsson, Steve McCarroll, Peter McGuffin, Melvin G McInnis, James D McKay, Helena Medeiros, Sarah E Medland, Fan Meng, Lili Milani, Grant W Montgomery, Derek W Morris, Thomas W Mühleisen, Niamh Mullins, Hoang Nguyen, Caroline M Nievergelt, Annelie Nordin Adolfsson, Evaristus A Nwulia, Claire O’Donovan, Loes M Olde Loohuis, Anil P S Ori, Lilijana Oruc, Urban Ösby, Roy H Perlis, Amy Perry, Andrea Pfennig, James B Potash, Shaun M Purcell, Eline J Regeer, Andreas Reif, Ceìline S Reinbold, John P Rice, Fabio Rivas, Margarita Rivera, Panos Roussos, Douglas M Ruderfer, Euijung Ryu, Cristina Saìnchez-Mora, Alan F Schatzberg, William A Scheftner, Nicholas J Schork, Cynthia Shannon Weickert, Tatyana Shehktman, Paul D Shilling, Engilbert Sigurdsson, Claire Slaney, Olav B Smeland, Janet L Sobell, Christine Søholm Hansen, Anne T Spijker, David St Clair, Michael Steffens, John S Strauss, Fabian Streit, Jana Strohmaier, Szabolcs Szelinger, Robert C Thompson, Thorgeir E Thorgeirsson, Jens Treutlein, Helmut Vedder, Weiqing Wang, Stanley J Watson, Thomas W Weickert, Stephanie H Witt, Simon Xi, Wei Xu, Allan H Young, Peter Zandi, Peng Zhang, Sebastian Zollner, Rolf Adolfsson, Ingrid Agartz, Martin Alda, Lena Backlund, Bernhard T Baune, Frank Bellivier, Wade H Berrettini, Joanna M Biernacka, Douglas H R Blackwood, Michael Boehnke, Anders D Børglum, Aiden Corvin, Nicholas Craddock, Mark J Daly, Udo Dannlowski, ToÞnu Esko, Bruno Etain, Mark Frye, Janice M Fullerton, Elliot S Gershon, Michael Gill, Fernando Goes, Maria Grigoroiu-Serbanescu, Joanna Hauser, David M Hougaard, Christina M Hultman, Ian Jones, Lisa A Jones, Reneì S Kahn, George Kirov, Mikael Landeìn, Marion Leboyer, Cathryn M Lewis, Qingqin S Li, Jolanta Lissowska, Nicholas G Martin, Fermin Mayoral, Susan L McElroy, Andrew M McIntosh, Francis J McMahon, Ingrid Melle, Andres Metspalu, Philip B Mitchell, Gunnar Morken, Ole Mors, Preben Bo Mortensen, Bertram Müller-Myhsok, Richard M Myers, Benjamin M Neale, Vishwajit Nimgaonkar, Merete Nordentoft, Markus M Nöthen, Michael C O’Donovan, Ketil J Oedegaard, Michael J Owen, Sara A Paciga, Carlos Pato, Michele T Pato, Danielle Posthuma, Josep Antoni Ramos-Quiroga, Marta Ribaseìs, Marcella Rietschel, Guy A Rouleau, Martin Schalling, Peter R Schofield, Thomas G Schulze, Alessandro Serretti, Jordan W Smoller, Hreinn Stefansson, Kari Stefansson, Eystein Stordal, Patrick F Sullivan, Gustavo Turecki, Arne E Vaaler, Eduard Vieta, John B Vincent, Thomas Werge, John I Nurnberger, Naomi R Wray, Arianna Di Florio, Howard J Edenberg, Sven Cichon, Roel A Ophoff, Laura J Scott, Ole A Andreassen, John Kelsoe, and Pamela Sklar
Subjects: Alzheimer’s disease, bipolar disorder, GWAS, pleiotropy, cognitive symptoms, affective symptoms, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
Abstract: Background: Alzheimer’s disease (AD) and bipolar disorder (BIP) are complex traits influenced by numerous common genetic variants, most of which remain to be detected. Clinical and epidemiological evidence suggest that AD and BIP are related. However, it is not established if this relation is of genetic origin. Here, we applied statistical methods based on the conditional false discovery rate (FDR) framework to detect genetic overlap between AD and BIP and utilized this overlap to increase the power to identify common genetic variants associated with either or both traits.Methods: We obtained genome wide association studies data from the International Genomics of Alzheimer’s Project part 1 (17,008 AD cases and 37,154 controls) and the Psychiatric Genetic Consortium Bipolar Disorder Working Group (20,352 BIP cases and 31,358 controls). We used conditional QQ-plots to assess overlap in common genetic variants between AD and BIP. We exploited the genetic overlap to re-rank test-statistics for AD and BIP and improve detection of genetic variants using the conditional FDR framework.Results: Conditional QQ-plots demonstrated a polygenic overlap between AD and BIP. Using conditional FDR, we identified one novel genomic locus associated with AD, and nine novel loci associated with BIP. Further, we identified two novel loci jointly associated with AD and BIP implicating the MARK2 gene (lead SNP rs10792421, conjunctional FDR = 0.030, same direction of effect) and the VAC14 gene (lead SNP rs11649476, conjunctional FDR = 0.022, opposite direction of effect).Conclusion: We found polygenic overlap between AD and BIP and identified novel loci for each trait and two jointly associated loci. Further studies should examine if the shared loci implicating the MARK2 and VAC14 genes could explain parts of the shared and distinct features of AD and BIP.
Published: 2019
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18. The future of metabolomics in ELIXIR [version 2; referees: 2 approved, 1 approved with reservations]

Author: Merlijn van Rijswijk, Charlie Beirnaert, Christophe Caron, Marta Cascante, Victoria Dominguez, Warwick B. Dunn, Timothy M. D. Ebbels, Franck Giacomoni, Alejandra Gonzalez-Beltran, Thomas Hankemeier, Kenneth Haug, Jose L. Izquierdo-Garcia, Rafael C. Jimenez, Fabien Jourdan, Namrata Kale, Maria I. Klapa, Oliver Kohlbacher, Kairi Koort, Kim Kultima, Gildas Le Corguillé, Pablo Moreno, Nicholas K. Moschonas, Steffen Neumann, Claire O’Donovan, Martin Reczko, Philippe Rocca-Serra, Antonio Rosato, Reza M. Salek, Susanna-Assunta Sansone, Venkata Satagopam, Daniel Schober, Ruth Shimmo, Rachel A. Spicer, Ola Spjuth, Etienne A. Thévenot, Mark R. Viant, Ralf J. M. Weber, Egon L. Willighagen, Gianluigi Zanetti, and Christoph Steinbeck
Subjects: Chemical Biology of the Cell, Medicine, Science
Abstract: Metabolomics, the youngest of the major omics technologies, is supported by an active community of researchers and infrastructure developers across Europe. To coordinate and focus efforts around infrastructure building for metabolomics within Europe, a workshop on the “Future of metabolomics in ELIXIR” was organised at Frankfurt Airport in Germany. This one-day strategic workshop involved representatives of ELIXIR Nodes, members of the PhenoMeNal consortium developing an e-infrastructure that supports workflow-based metabolomics analysis pipelines, and experts from the international metabolomics community. The workshop established metabolite identification as the critical area, where a maximal impact of computational metabolomics and data management on other fields could be achieved. In particular, the existing four ELIXIR Use Cases, where the metabolomics community - both industry and academia - would benefit most, and which could be exhaustively mapped onto the current five ELIXIR Platforms were discussed. This opinion article is a call for support for a new ELIXIR metabolomics Use Case, which aligns with and complements the existing and planned ELIXIR Platforms and Use Cases.
Published: 2017
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19. The future of metabolomics in ELIXIR [version 1; referees: 2 approved, 1 approved with reservations]

Author: Merlijn van Rijswijk, Charlie Beirnaert, Christophe Caron, Marta Cascante, Victoria Dominguez, Warwick B. Dunn, Timothy M. D. Ebbels, Franck Giacomoni, Alejandra Gonzalez-Beltran, Thomas Hankemeier, Kenneth Haug, Jose L. Izquierdo-Garcia, Rafael C. Jimenez, Fabien Jourdan, Namrata Kale, Maria I. Klapa, Oliver Kohlbacher, Kairi Koort, Kim Kultima, Gildas Le Corguillé, Nicholas K. Moschonas, Steffen Neumann, Claire O’Donovan, Martin Reczko, Philippe Rocca-Serra, Antonio Rosato, Reza M. Salek, Susanna-Assunta Sansone, Venkata Satagopam, Daniel Schober, Ruth Shimmo, Rachel A. Spicer, Ola Spjuth, Etienne A. Thévenot, Mark R. Viant, Ralf J. M. Weber, Egon L. Willighagen, Gianluigi Zanetti, and Christoph Steinbeck
Subjects: Chemical Biology of the Cell, Medicine, Science
Abstract: Metabolomics, the youngest of the major omics technologies, is supported by an active community of researchers and infrastructure developers across Europe. To coordinate and focus efforts around infrastructure building for metabolomics within Europe, a workshop on the “Future of metabolomics in ELIXIR” was organised at Frankfurt Airport in Germany. This one-day strategic workshop involved representatives of ELIXIR Nodes, members of the PhenoMeNal consortium developing an e-infrastructure that supports workflow-based metabolomics analysis pipelines, and experts from the international metabolomics community. The workshop established metabolite identification as the critical area, where a maximal impact of computational metabolomics and data management on other fields could be achieved. In particular, the existing four ELIXIR Use Cases, where the metabolomics community - both industry and academia - would benefit most, and which could be exhaustively mapped onto the current five ELIXIR Platforms were discussed. This opinion article is a call for support for a new ELIXIR metabolomics Use Case, which aligns with and complements the existing and planned ELIXIR Platforms and Use Cases.
Published: 2017
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20. Erratum to: Online information seeking by patients with bipolar disorder: results from an international multisite survey

Author: Jörn Conell, Rita Bauer, Tasha Glenn, Martin Alda, Raffaella Ardau, Bernhard T. Baune, Michael Berk, Yuly Bersudsky, Amy Bilderbeck, Alberto Bocchetta, Letizia Bossini, Angela Marianne Paredes Castro, Eric Yat Wo Cheung, Caterina Chillotti, Sabine Choppin, Maria Del Zompo, Rodrigo Dias, Seetal Dodd, Anne Duffy, Bruno Etain, Andrea Fagiolini, Julie Garnham, John Geddes, Jonas Gildebro, Ana Gonzalez-Pinto, Guy M. Goodwin, Paul Grof, Hirohiko Harima, Stefanie Hassel, Chantal Henry, Diego Hidalgo-Mazzei, Vaisnvy Kapur, Girish Kunigiri, Beny Lafer, Chun Lam, Erik Roj Larsen, Ute Lewitzka, Rasmus W. Licht, Anne Hvenegaard Lund, Blazej Misiak, Patryk Piotrowski, Scott Monteith, Rodrigo Munoz, Takako Nakanotani, René E. Nielsen, Claire O’Donovan, Yasushi Okamura, Yamima Osher, Andreas Reif, Philipp Ritter, Janusz K. Rybakowski, Kemal Sagduyu, Brett Sawchuk, Elon Schwartz, Ângela Miranda Scippa, Claire Slaney, Ahmad Hatim Sulaiman, Kirsi Suominen, Aleksandra Suwalska, Peter Tam, Yoshitaka Tatebayashi, Leonardo Tondo, Eduard Vieta, Maj Vinberg, Biju Viswanath, Julia Volkert, Mark Zetin, Iñaki Zorrilla, Peter C. Whybrow, and Michael Bauer
Subjects: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurophysiology and neuropsychology, QP351-495
Published: 2017
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21. Representing kidney development using the gene ontology.

Author: Yasmin Alam-Faruque, David P Hill, Emily C Dimmer, Midori A Harris, Rebecca E Foulger, Susan Tweedie, Helen Attrill, Douglas G Howe, Stephen Randall Thomas, Duncan Davidson, Adrian S Woolf, Judith A Blake, Christopher J Mungall, Claire O'Donovan, Rolf Apweiler, and Rachael P Huntley
Subjects: Medicine, Science
Abstract: Gene Ontology (GO) provides dynamic controlled vocabularies to aid in the description of the functional biological attributes and subcellular locations of gene products from all taxonomic groups (www.geneontology.org). Here we describe collaboration between the renal biomedical research community and the GO Consortium to improve the quality and quantity of GO terms describing renal development. In the associated annotation activity, the new and revised terms were associated with gene products involved in renal development and function. This project resulted in a total of 522 GO terms being added to the ontology and the creation of approximately 9,600 kidney-related GO term associations to 940 UniProt Knowledgebase (UniProtKB) entries, covering 66 taxonomic groups. We demonstrate the impact of these improvements on the interpretation of GO term analyses performed on genes differentially expressed in kidney glomeruli affected by diabetic nephropathy. In summary, we have produced a resource that can be utilized in the interpretation of data from small- and large-scale experiments investigating molecular mechanisms of kidney function and development and thereby help towards alleviating renal disease.
Published: 2014
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22. The COMBREX project: design, methodology, and initial results.

Author: Brian P Anton, Yi-Chien Chang, Peter Brown, Han-Pil Choi, Lina L Faller, Jyotsna Guleria, Zhenjun Hu, Niels Klitgord, Ami Levy-Moonshine, Almaz Maksad, Varun Mazumdar, Mark McGettrick, Lais Osmani, Revonda Pokrzywa, John Rachlin, Rajeswari Swaminathan, Benjamin Allen, Genevieve Housman, Caitlin Monahan, Krista Rochussen, Kevin Tao, Ashok S Bhagwat, Steven E Brenner, Linda Columbus, Valérie de Crécy-Lagard, Donald Ferguson, Alexey Fomenkov, Giovanni Gadda, Richard D Morgan, Andrei L Osterman, Dmitry A Rodionov, Irina A Rodionova, Kenneth E Rudd, Dieter Söll, James Spain, Shuang-Yong Xu, Alex Bateman, Robert M Blumenthal, J Martin Bollinger, Woo-Suk Chang, Manuel Ferrer, Iddo Friedberg, Michael Y Galperin, Julien Gobeill, Daniel Haft, John Hunt, Peter Karp, William Klimke, Carsten Krebs, Dana Macelis, Ramana Madupu, Maria J Martin, Jeffrey H Miller, Claire O'Donovan, Bernhard Palsson, Patrick Ruch, Aaron Setterdahl, Granger Sutton, John Tate, Alexander Yakunin, Dmitri Tchigvintsev, Germán Plata, Jie Hu, Russell Greiner, David Horn, Kimmen Sjölander, Steven L Salzberg, Dennis Vitkup, Stanley Letovsky, Daniel Segrè, Charles DeLisi, Richard J Roberts, Martin Steffen, and Simon Kasif
Subjects: Biology (General), QH301-705.5
Published: 2013
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23. Assessment of Response to Lithium Maintenance Treatment in Bipolar Disorder: A Consortium on Lithium Genetics (ConLiGen) Report.

Author: Mirko Manchia, Mazda Adli, Nirmala Akula, Raffaella Ardau, Jean-Michel Aubry, Lena Backlund, Claudio Em Banzato, Bernhard T Baune, Frank Bellivier, Susanne Bengesser, Joanna M Biernacka, Clara Brichant-Petitjean, Elise Bui, Cynthia V Calkin, Andrew Tai Ann Cheng, Caterina Chillotti, Sven Cichon, Scott Clark, Piotr M Czerski, Clarissa Dantas, Maria Del Zompo, J Raymond Depaulo, Sevilla D Detera-Wadleigh, Bruno Etain, Peter Falkai, Louise Frisén, Mark A Frye, Jan Fullerton, Sébastien Gard, Julie Garnham, Fernando S Goes, Paul Grof, Oliver Gruber, Ryota Hashimoto, Joanna Hauser, Urs Heilbronner, Rebecca Hoban, Liping Hou, Stéphane Jamain, Jean-Pierre Kahn, Layla Kassem, Tadafumi Kato, John R Kelsoe, Sarah Kittel-Schneider, Sebastian Kliwicki, Po-Hsiu Kuo, Ichiro Kusumi, Gonzalo Laje, Catharina Lavebratt, Marion Leboyer, Susan G Leckband, Carlos A López Jaramillo, Mario Maj, Alain Malafosse, Lina Martinsson, Takuya Masui, Philip B Mitchell, Frank Mondimore, Palmiero Monteleone, Audrey Nallet, Maria Neuner, Tomás Novák, Claire O'Donovan, Urban Osby, Norio Ozaki, Roy H Perlis, Andrea Pfennig, James B Potash, Daniela Reich-Erkelenz, Andreas Reif, Eva Reininghaus, Sara Richardson, Guy A Rouleau, Janusz K Rybakowski, Martin Schalling, Peter R Schofield, Oliver K Schubert, Barbara Schweizer, Florian Seemüller, Maria Grigoroiu-Serbanescu, Giovanni Severino, Lisa R Seymour, Claire Slaney, Jordan W Smoller, Alessio Squassina, Thomas Stamm, Jo Steele, Pavla Stopkova, Sarah K Tighe, Alfonso Tortorella, Gustavo Turecki, Naomi R Wray, Adam Wright, Peter P Zandi, David Zilles, Michael Bauer, Marcella Rietschel, Francis J McMahon, Thomas G Schulze, and Martin Alda
Subjects: Medicine, Science
Abstract: The assessment of response to lithium maintenance treatment in bipolar disorder (BD) is complicated by variable length of treatment, unpredictable clinical course, and often inconsistent compliance. Prospective and retrospective methods of assessment of lithium response have been proposed in the literature. In this study we report the key phenotypic measures of the "Retrospective Criteria of Long-Term Treatment Response in Research Subjects with Bipolar Disorder" scale currently used in the Consortium on Lithium Genetics (ConLiGen) study.Twenty-nine ConLiGen sites took part in a two-stage case-vignette rating procedure to examine inter-rater agreement [Kappa (κ)] and reliability [intra-class correlation coefficient (ICC)] of lithium response. Annotated first-round vignettes and rating guidelines were circulated to expert research clinicians for training purposes between the two stages. Further, we analyzed the distributional properties of the treatment response scores available for 1,308 patients using mixture modeling.Substantial and moderate agreement was shown across sites in the first and second sets of vignettes (κ = 0.66 and κ = 0.54, respectively), without significant improvement from training. However, definition of response using the A score as a quantitative trait and selecting cases with B criteria of 4 or less showed an improvement between the two stages (ICC1 = 0.71 and ICC2 = 0.75, respectively). Mixture modeling of score distribution indicated three subpopulations (full responders, partial responders, non responders).We identified two definitions of lithium response, one dichotomous and the other continuous, with moderate to substantial inter-rater agreement and reliability. Accurate phenotypic measurement of lithium response is crucial for the ongoing ConLiGen pharmacogenomic study.
Published: 2013
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24. The impact of focused Gene Ontology curation of specific mammalian systems.

Author: Yasmin Alam-Faruque, Rachael P Huntley, Varsha K Khodiyar, Evelyn B Camon, Emily C Dimmer, Tony Sawford, Maria J Martin, Claire O'Donovan, Philippa J Talmud, Peter Scambler, Rolf Apweiler, and Ruth C Lovering
Subjects: Medicine, Science
Abstract: The Gene Ontology (GO) resource provides dynamic controlled vocabularies to provide an information-rich resource to aid in the consistent description of the functional attributes and subcellular locations of gene products from all taxonomic groups (www.geneontology.org). System-focused projects, such as the Renal and Cardiovascular GO Annotation Initiatives, aim to provide detailed GO data for proteins implicated in specific organ development and function. Such projects support the rapid evaluation of new experimental data and aid in the generation of novel biological insights to help alleviate human disease. This paper describes the improvement of GO data for renal and cardiovascular research communities and demonstrates that the cardiovascular-focused GO annotations, created over the past three years, have led to an evident improvement of microarray interpretation. The reanalysis of cardiovascular microarray datasets confirms the need to continue to improve the annotation of the human proteome.GO ANNOTATION DATA IS FREELY AVAILABLE FROM: ftp://ftp.geneontology.org/pub/go/gene-associations/
Published: 2011
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25. Integrative annotation of 21,037 human genes validated by full-length cDNA clones.

Author: Tadashi Imanishi, Takeshi Itoh, Yutaka Suzuki, Claire O'Donovan, Satoshi Fukuchi, Kanako O Koyanagi, Roberto A Barrero, Takuro Tamura, Yumi Yamaguchi-Kabata, Motohiko Tanino, Kei Yura, Satoru Miyazaki, Kazuho Ikeo, Keiichi Homma, Arek Kasprzyk, Tetsuo Nishikawa, Mika Hirakawa, Jean Thierry-Mieg, Danielle Thierry-Mieg, Jennifer Ashurst, Libin Jia, Mitsuteru Nakao, Michael A Thomas, Nicola Mulder, Youla Karavidopoulou, Lihua Jin, Sangsoo Kim, Tomohiro Yasuda, Boris Lenhard, Eric Eveno, Yoshiyuki Suzuki, Chisato Yamasaki, Jun-ichi Takeda, Craig Gough, Phillip Hilton, Yasuyuki Fujii, Hiroaki Sakai, Susumu Tanaka, Clara Amid, Matthew Bellgard, Maria de Fatima Bonaldo, Hidemasa Bono, Susan K Bromberg, Anthony J Brookes, Elspeth Bruford, Piero Carninci, Claude Chelala, Christine Couillault, Sandro J de Souza, Marie-Anne Debily, Marie-Dominique Devignes, Inna Dubchak, Toshinori Endo, Anne Estreicher, Eduardo Eyras, Kaoru Fukami-Kobayashi, Gopal R Gopinath, Esther Graudens, Yoonsoo Hahn, Michael Han, Ze-Guang Han, Kousuke Hanada, Hideki Hanaoka, Erimi Harada, Katsuyuki Hashimoto, Ursula Hinz, Momoki Hirai, Teruyoshi Hishiki, Ian Hopkinson, Sandrine Imbeaud, Hidetoshi Inoko, Alexander Kanapin, Yayoi Kaneko, Takeya Kasukawa, Janet Kelso, Paul Kersey, Reiko Kikuno, Kouichi Kimura, Bernhard Korn, Vladimir Kuryshev, Izabela Makalowska, Takashi Makino, Shuhei Mano, Regine Mariage-Samson, Jun Mashima, Hideo Matsuda, Hans-Werner Mewes, Shinsei Minoshima, Keiichi Nagai, Hideki Nagasaki, Naoki Nagata, Rajni Nigam, Osamu Ogasawara, Osamu Ohara, Masafumi Ohtsubo, Norihiro Okada, Toshihisa Okido, Satoshi Oota, Motonori Ota, Toshio Ota, Tetsuji Otsuki, Dominique Piatier-Tonneau, Annemarie Poustka, Shuang-Xi Ren, Naruya Saitou, Katsunaga Sakai, Shigetaka Sakamoto, Ryuichi Sakate, Ingo Schupp, Florence Servant, Stephen Sherry, Rie Shiba, Nobuyoshi Shimizu, Mary Shimoyama, Andrew J Simpson, Bento Soares, Charles Steward, Makiko Suwa, Mami Suzuki, Aiko Takahashi, Gen Tamiya, Hiroshi Tanaka, Todd Taylor, Joseph D Terwilliger, Per Unneberg, Vamsi Veeramachaneni, Shinya Watanabe, Laurens Wilming, Norikazu Yasuda, Hyang-Sook Yoo, Marvin Stodolsky, Wojciech Makalowski, Mitiko Go, Kenta Nakai, Toshihisa Takagi, Minoru Kanehisa, Yoshiyuki Sakaki, John Quackenbush, Yasushi Okazaki, Yoshihide Hayashizaki, Winston Hide, Ranajit Chakraborty, Ken Nishikawa, Hideaki Sugawara, Yoshio Tateno, Zhu Chen, Michio Oishi, Peter Tonellato, Rolf Apweiler, Kousaku Okubo, Lukas Wagner, Stefan Wiemann, Robert L Strausberg, Takao Isogai, Charles Auffray, Nobuo Nomura, Takashi Gojobori, and Sumio Sugano
Subjects: Biology (General), QH301-705.5
Abstract: The human genome sequence defines our inherent biological potential; the realization of the biology encoded therein requires knowledge of the function of each gene. Currently, our knowledge in this area is still limited. Several lines of investigation have been used to elucidate the structure and function of the genes in the human genome. Even so, gene prediction remains a difficult task, as the varieties of transcripts of a gene may vary to a great extent. We thus performed an exhaustive integrative characterization of 41,118 full-length cDNAs that capture the gene transcripts as complete functional cassettes, providing an unequivocal report of structural and functional diversity at the gene level. Our international collaboration has validated 21,037 human gene candidates by analysis of high-quality full-length cDNA clones through curation using unified criteria. This led to the identification of 5,155 new gene candidates. It also manifested the most reliable way to control the quality of the cDNA clones. We have developed a human gene database, called the H-Invitational Database (H-InvDB; http://www.h-invitational.jp/). It provides the following: integrative annotation of human genes, description of gene structures, details of novel alternative splicing isoforms, non-protein-coding RNAs, functional domains, subcellular localizations, metabolic pathways, predictions of protein three-dimensional structure, mapping of known single nucleotide polymorphisms (SNPs), identification of polymorphic microsatellite repeats within human genes, and comparative results with mouse full-length cDNAs. The H-InvDB analysis has shown that up to 4% of the human genome sequence (National Center for Biotechnology Information build 34 assembly) may contain misassembled or missing regions. We found that 6.5% of the human gene candidates (1,377 loci) did not have a good protein-coding open reading frame, of which 296 loci are strong candidates for non-protein-coding RNA genes. In addition, among 72,027 uniquely mapped SNPs and insertions/deletions localized within human genes, 13,215 nonsynonymous SNPs, 315 nonsense SNPs, and 452 indels occurred in coding regions. Together with 25 polymorphic microsatellite repeats present in coding regions, they may alter protein structure, causing phenotypic effects or resulting in disease. The H-InvDB platform represents a substantial contribution to resources needed for the exploration of human biology and pathology.
Published: 2004
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26. MetaboLights: a resource evolving in response to the needs of its scientific community.

Author: Kenneth Haug, Keeva Cochrane, Venkata Chandrasekhar Nainala, Mark Williams, Jiakang Chang, Kalai Vanii Jayaseelan, and Claire O'Donovan
Published: 2020
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27. SIFTS: updated Structure Integration with Function, Taxonomy and Sequences resource allows 40-fold increase in coverage of structure-based annotations for proteins.

Author: Jose M. Dana, Aleksandras Gutmanas, Nidhi Tyagi, Guoying Qi, Claire O'Donovan, Maria Jesus Martin, and Sameer Velankar
Published: 2019
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28. Guiding the choice of informatics software and tools for lipidomics research applications

Author: Zhixu Ni, Michele Wölk, Geoff Jukes, Karla Mendivelso Espinosa, Robert Ahrends, Lucila Aimo, Jorge Alvarez-Jarreta, Simon Andrews, Robert Andrews, Alan Bridge, Geremy C. Clair, Matthew J. Conroy, Eoin Fahy, Caroline Gaud, Laura Goracci, Jürgen Hartler, Nils Hoffmann, Dominik Kopczyinki, Ansgar Korf, Andrea F. Lopez-Clavijo, Adnan Malik, Jacobo Miranda Ackerman, Martijn R. Molenaar, Claire O’Donovan, Tomáš Pluskal, Andrej Shevchenko, Denise Slenter, Gary Siuzdak, Martina Kutmon, Hiroshi Tsugawa, Egon L. Willighagen, Jianguo Xia, Valerie B. O’Donnell, Maria Fedorova, Bioinformatica, RS: NUTRIM - R1 - Obesity, diabetes and cardiovascular health, Maastricht Centre for Systems Biology, RS: FHML MaCSBio, and RS: FSE MaCSBio
Subjects: Identification, Sphingolipids, Annotation, Lc-ms, Metabolite, Sex, Cell Biology, Molecular Biology, Biochemistry, Lipids, Article, Knowledgebase, Biotechnology
Abstract: Recent progress in mass spectrometry (MS) lipidomics has led to a rapid proliferation of studies across biology and biomedicine and facilitating important discoveries. These generate extremely large raw datasets requiring sophisticated tailored solutions to support automated data processing. To address this, numerous software tools have been developed, tailored for specific tasks in the data analysis pipeline. However, for researchers, deciding which approach best suits their application relies on ad hoc testing, which is inefficient and time-consuming. Here, we first review the data processing pipeline, summarizing the number and scope of available tools. Next, to support researchers, LIPID MAPS provides an interactive online portal listing open-access tools with a graphical user interface. This guides users towards appropriate solutions within major areas in data processing including (1) lipid-oriented databases, (2) MS data repositories, (3) analysis of targeted lipidomics datasets, (4) lipid identification, and (5) quantification from untargeted lipidomics datasets, (6) statistical analysis and visualization, and (7) data integration solutions. Detailed descriptions of functions and requirements are provided to guide customized data analysis workflows.
Published: 2023
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29. A New Corpus to Support Text Mining for the Curation of Metabolites in the ChEBI Database.

Author: Matthew Shardlow, Nhung T. H. Nguyen 0001, Gareth I. Owen, Claire O'Donovan, Andrew Leach, John McNaught, Steve Turner, and Sophia Ananiadou
Published: 2018

30. Open Targets: a platform for therapeutic target identification and validation.

Author: Gautier Koscielny, Peter An, Denise Carvalho-Silva, Jennifer A. Cham, Luca Fumis, Rippa Gasparyan, Samiul Hasan, Nikiforos Karamanis, Michael Maguire, Eliseo Papa, Andrea Pierleoni, Miguel Pignatelli, Theo Platt, Francis Rowland, Priyanka Wankar, A. Patrícia Bento, Tony Burdett, Antonio Fabregat, Simon A. Forbes, Anna Gaulton, Cristina Yenyxe González, Henning Hermjakob, Anne Hersey, Steven Jupe, Senay Kafkas, Maria Keays, Catherine Leroy, Francisco-Javier Lopez, María P. Magariños, James Malone, Johanna R. McEntyre, Alfonso Muñoz-Pomer Fuentes, Claire O'Donovan, Irene Papatheodorou, Helen E. Parkinson, Barbara Palka, Justin E. Paschall, Robert Petryszak, Naruemon Pratanwanich, Sirarat Sarntivijai, Gary Saunders, Konstantinos Sidiropoulos, Thomas Smith, Zbyslaw Sondka, Oliver Stegle, Y. Amy Tang, Edward Turner, Brendan W. Vaughan, Olga Vrousgou, Xavier Watkins, Maria Jesus Martin, Philippe Sanseau, Jessica Vamathevan, Ewan Birney, Jeffrey Barrett, and Ian Dunham
Published: 2017
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31. Cultural Differences in Psychological Distress and Illness Perceptions Amongst People Living With Cardiac Inherited Diseases

Author: Jessee Fia’Ali’i, Mikaela Law, Claire O’Donovan, Jonathan R. Skinner, and Elizabeth Broadbent
Subjects: Pulmonary and Respiratory Medicine, Cross-Sectional Studies, Native Hawaiian or Other Pacific Islander, Heart Diseases, Ethnicity, Humans, Health Promotion, Psychological Distress, Cardiology and Cardiovascular Medicine, New Zealand
Abstract: Cardiac Inherited diseases (CID) and minority ethnic status are both associated with anxiety and depression. This study aimed to investigate differences in patient experiences of CID between ethnic groups in New Zealand (NZ) in order to inform psychosocial interventions and promote health equity. A cross-sectional survey was administered to a NZ CID database. One-hundred and fifty-two (152) NZ Europeans, 19 Māori, and two Pasifika participated. Māori and Pasifika peoples reported significantly greater symptom perceptions, shorter timeline perceptions, higher perceived risk of severe symptoms, and were less likely to attribute the cause of their CID to hereditary factors than NZ Europeans. Māori and Pasifika also reported more anxiety and distress, although both groups reported beneficial medication perceptions and high medication adherence. Differences could not be attributed to clinical or other demographic variables. The use of screening tools and development of culturally appropriate interventions may help reduce both distress and health inequities.
Published: 2022
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32. UniRule: a unified rule resource for automatic annotation in the UniProt Knowledgebase.

Author: Alistair MacDougall, Vladimir Volynkin, Rabie Saidi, Diego Poggioli, Hermann Zellner, Emma Hatton-Ellis, Vishal Joshi, Claire O'Donovan, Sandra E. Orchard, Andrea H. Auchincloss, Delphine Baratin, Jerven T. Bolleman, Elisabeth Coudert, Edouard De Castro, Chantal Hulo, Patrick Masson, Ivo Pedruzzi, Catherine Rivoire, Cecilia N. Arighi, Qinghua Wang 0003, Chuming Chen, Hongzhan Huang, John Garavelli, C. R. Vinayaka, Lai-Su Yeh, Darren A. Natale, Kati Laiho, Maria Jesus Martin, Alexandre Renaux, and Klemens Pichler
Published: 2021
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33. UniProt-DAAC: domain architecture alignment and classification, a new method for automatic functional annotation in UniProtKB.

Author: Tunca Dogan, Alistair MacDougall, Rabie Saidi, Diego Poggioli, Alex Bateman, Claire O'Donovan, and Maria Jesus Martin
Published: 2016
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34. A new machine learning-derived screening measure for differentiating bipolar from unipolar mood disorders

Author: Gordon Parker, Michael J. Spoelma, Gabriela Tavella, Martin Alda, David L. Dunner, Claire O'Donovan, Janusz K. Rybakowski, Adam Bayes, Verinder Sharma, Philip Boyce, and Vijaya Manicavasagar
Subjects: Diagnostic and Statistical Manual of Mental Disorders, Machine Learning, Mania, Psychiatry and Mental health, Clinical Psychology, Bipolar Disorder, Mood Disorders, Humans
Abstract: While there are several accepted screening measures for identifying those with a bipolar disorder, variations in overall classification rates argue for the pursuit of a more discriminating measure. Extant measures, as well as the DSM-5, rate each diagnostic criterion as having equivalent weighting values; an approach which may compromise diagnostic assignment if symptoms vary considerably in their diagnostic sensitivity. We therefore sought to develop a new measure and examine whether a weighted rating scale was superior to one assigning equivalent weightings to each item.An international sample of 165 bipolar patients and a comparison sample of 29 unipolar patients completed a measure assessing 96 putative manic/hypomanic symptoms. A previous machine learning analysis had identified the twenty most discriminating items. In this study, analysis was undertaken involving only the ten most discriminating items.Whether items were scored as each having equivalent value or as weighted by their machine learning-generated values, classificatory accuracy was extremely high (in the order of 96%). Analyses also identified optimal cut-off scores. High classificatory accuracy was also obtained when scores for separate bipolar I and bipolar II groups were compared with scores from the unipolar group.The sample consisted of comparatively few unipolar patients.The ten-item set allows a new measure for researchers to evaluate, while the items should assist clinician assessment as to whether a patient has a bipolar or unipolar mood disorder.
Published: 2022
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35. Bioinformatics for Medicinal Chemistry

Author: Emma Manners, Claire O'Donovan, and Maria J. Martin
Abstract: Bioinformatics is the computational processing and analysis of biological data. Structured biological data is available in open-access databases and provides a valuable source of information for drug discovery and medicinal chemistry research. In this chapter, an overview of key biological entities, their properties and databases relevant to bioinformatics analyses is presented. Medicinal chemistry resources (that also use chemoinformatics approaches) are described and we offer an insight into how these can be used to investigate the impact of chemical entities on biological molecules relevant to disease. Platforms that integrate broad drug-relevant data in a user-friendly format are also highlighted. Throughout the chapter, the example of cholesterol lowering drugs and/or their biological targets are used to highlight bioinformatics strategies and relevant data that can be extracted from freely available data repositories to illustrate how bioinformatics can be of use to the medicinal chemistry community.
Published: 2023
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36. The GOA database: Gene Ontology annotation updates for 2015.

Author: Rachael P. Huntley, Tony Sawford, Prudence Mutowo-Meullenet, Aleksandra Shypitsyna, Carlos Bonilla, Maria Jesus Martin, and Claire O'Donovan
Published: 2015
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37. The future of metabolomics in ELIXIR [version 2; referees: 3 approved]

Author: Merlijn van Rijswijk, Charlie Beirnaert, Christophe Caron, Marta Cascante, Victoria Dominguez, Warwick B. Dunn, Timothy M. D. Ebbels, Franck Giacomoni, Alejandra Gonzalez-Beltran, Thomas Hankemeier, Kenneth Haug, Jose L. Izquierdo-Garcia, Rafael C. Jimenez, Fabien Jourdan, Namrata Kale, Maria I. Klapa, Oliver Kohlbacher, Kairi Koort, Kim Kultima, Gildas Le Corguillé, Pablo Moreno, Nicholas K. Moschonas, Steffen Neumann, Claire O’Donovan, Martin Reczko, Philippe Rocca-Serra, Antonio Rosato, Reza M. Salek, Susanna-Assunta Sansone, Venkata Satagopam, Daniel Schober, Ruth Shimmo, Rachel A. Spicer, Ola Spjuth, Etienne A. Thévenot, Mark R. Viant, Ralf J. M. Weber, Egon L. Willighagen, Gianluigi Zanetti, and Christoph Steinbeck
Subjects: Opinion Article, Articles, Chemical Biology of the Cell, metabolomics, databases, bioinformatics infrastructure, data standards, computational workflows, cloud computing, training, multi-omics approaches
Abstract: Metabolomics, the youngest of the major omics technologies, is supported by an active community of researchers and infrastructure developers across Europe. To coordinate and focus efforts around infrastructure building for metabolomics within Europe, a workshop on the “Future of metabolomics in ELIXIR” was organised at Frankfurt Airport in Germany. This one-day strategic workshop involved representatives of ELIXIR Nodes, members of the PhenoMeNal consortium developing an e-infrastructure that supports workflow-based metabolomics analysis pipelines, and experts from the international metabolomics community. The workshop established metabolite identification as the critical area, where a maximal impact of computational metabolomics and data management on other fields could be achieved. In particular, the existing four ELIXIR Use Cases, where the metabolomics community - both industry and academia - would benefit most, and which could be exhaustively mapped onto the current five ELIXIR Platforms were discussed. This opinion article is a call for support for a new ELIXIR metabolomics Use Case, which aligns with and complements the existing and planned ELIXIR Platforms and Use Cases.
Published: 2017
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38. Canadian Network for Mood and Anxiety Treatments (CANMAT) and International Society for Bipolar Disorders (ISBD) recommendations for the management of patients with bipolar disorder with mixed presentations

Author: Claire O'Donovan, Joseph R. Calabrese, Ayal Schaffer, Roumen Milev, Eduard Vieta, Serge Beaulieu, Sagar V. Parikh, Gin S Malhi, Roger S. McIntyre, Raymond W. Lam, Michael Berk, David J. Bond, Sidney H. Kennedy, Benjamin I. Goldstein, Flávio Kapczinski, Benicio N. Frey, Martin Alda, Arun V. Ravindran, Márcia Kauer-Sant'Anna, Lakshmi N. Yatham, Trisha Chakrabarty, Jan-Marie Kozicky, Trisha Suppes, Verinder Sharma, Robert M. Post, Soham Rej, Valérie Tourjman, Shigenobu Kanba, and Gustavo Vazquez
Subjects: Divalproex, Canada, medicine.medical_specialty, Bipolar Disorder, Aripiprazole, Cariprazine, Anxiety, chemistry.chemical_compound, medicine, Humans, Asenapine, Bipolar disorder, Psychiatry, Biological Psychiatry, Lurasidone, business.industry, Valproic Acid, medicine.disease, Psychiatry and Mental health, chemistry, Olanzapine, Quetiapine, medicine.symptom, business, Mania, Antipsychotic Agents, medicine.drug
Abstract: Objectives The 2018 Canadian Network for Mood and Anxiety Treatments (CANMAT) and International Society for Bipolar Disorders (ISBD) guidelines provided clinicians with pragmatic treatment recommendations for bipolar disorder (BD). While these guidelines included commentary on how mixed features may direct treatment selection, specific recommendations were not provided- a critical gap which the current update aims to address. Method Overview of research regarding mixed presentations in BD, with treatment recommendations developed using a modified CANMAT/ISBD rating methodology. Limitations are discussed, including the dearth of high-quality data and reliance on expert opinion. Results No agents met threshold for first line treatment of DSM-5 manic or depressive episodes with mixed features. For mania + mixed features second line treatment options include asenapine, cariprazine, divalproex, and aripiprazole. In depression + mixed features, cariprazine and lurasidone are recommended as second line options. For DSM-IV defined mixed episodes, with a longer history of research, asenapine and aripiprazole are first line, and olanzapine (monotherapy or combination), carbamazepine, and divalproex are second line. Research on maintenance treatments following a DSM-5 mixed presentation is extremely limited, with third-line recommendations based on expert opinion. For maintenance treatment following a DSM-IV mixed episode, quetiapine (monotherapy or combination) is first line, and lithium and olanzapine identified as second line options. Conclusion The CANMAT and ISBD groups hope these guidelines provide valuable support for clinicians providing care to patients experiencing mixed presentations, as well as further influence investment in research to improve diagnosis and treatment of this common and complex clinical state.
Published: 2021
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39. Sex-Dependent Shared and Nonshared Genetic Architecture Across Mood and Psychotic Disorders

Author: Gabriëlla A.M. Blokland, Jakob Grove, Chia-Yen Chen, Chris Cotsapas, Stuart Tobet, Robert Handa, David St Clair, Todd Lencz, Bryan J. Mowry, Sathish Periyasamy, Murray J. Cairns, Paul A. Tooney, Jing Qin Wu, Brian Kelly, George Kirov, Patrick F. Sullivan, Aiden Corvin, Brien P. Riley, Tõnu Esko, Lili Milani, Erik G. Jönsson, Aarno Palotie, Hannelore Ehrenreich, Martin Begemann, Agnes Steixner-Kumar, Pak C. Sham, Nakao Iwata, Daniel R. Weinberger, Pablo V. Gejman, Alan R. Sanders, Joseph D. Buxbaum, Dan Rujescu, Ina Giegling, Bettina Konte, Annette M. Hartmann, Elvira Bramon, Robin M. Murray, Michele T. Pato, Jimmy Lee, Ingrid Melle, Espen Molden, Roel A. Ophoff, Andrew McQuillin, Nicholas J. Bass, Rolf Adolfsson, Anil K. Malhotra, Nicholas G. Martin, Janice M. Fullerton, Philip B. Mitchell, Peter R. Schofield, Andreas J. Forstner, Franziska Degenhardt, Sabrina Schaupp, Ashley L. Comes, Manolis Kogevinas, José Guzman-Parra, Andreas Reif, Fabian Streit, Lea Sirignano, Sven Cichon, Maria Grigoroiu-Serbanescu, Joanna Hauser, Jolanta Lissowska, Fermin Mayoral, Bertram Müller-Myhsok, Beata Świątkowska, Thomas G. Schulze, Markus M. Nöthen, Marcella Rietschel, John Kelsoe, Marion Leboyer, Stéphane Jamain, Bruno Etain, Frank Bellivier, John B. Vincent, Martin Alda, Claire O’Donovan, Pablo Cervantes, Joanna M. Biernacka, Mark Frye, Susan L. McElroy, Laura J. Scott, Eli A. Stahl, Mikael Landén, Marian L. Hamshere, Olav B. Smeland, Srdjan Djurovic, Arne E. Vaaler, Ole A. Andreassen, Bernhard T. Baune, Tracy Air, Martin Preisig, Rudolf Uher, Douglas F. Levinson, Myrna M. Weissman, James B. Potash, Jianxin Shi, James A. Knowles, Roy H. Perlis, Susanne Lucae, Dorret I. Boomsma, Brenda W.J.H. Penninx, Jouke-Jan Hottenga, Eco J.C. de Geus, Gonneke Willemsen, Yuri Milaneschi, Henning Tiemeier, Hans J. Grabe, Alexander Teumer, Sandra Van der Auwera, Uwe Völker, Steven P. Hamilton, Patrik K.E. Magnusson, Alexander Viktorin, Divya Mehta, Niamh Mullins, Mark J. Adams, Gerome Breen, Andrew M. McIntosh, Cathryn M. Lewis, David M. Hougaard, Merete Nordentoft, Ole Mors, Preben B. Mortensen, Thomas Werge, Thomas D. Als, Anders D. Børglum, Tracey L. Petryshen, Jordan W. Smoller, Jill M. Goldstein, Stephan Ripke, Benjamin M. Neale, James T.R. Walters, Kai-How Farh, Peter A. Holmans, Phil Lee, Brendan Bulik-Sullivan, David A. Collier, Hailiang Huang, Tune H. Pers, Ingrid Agartz, Esben Agerbo, Margot Albus, Madeline Alexander, Farooq Amin, Silviu A. Bacanu, Richard A. Belliveau, Judit Bene, Sarah E. Bergen, Elizabeth Bevilacqua, Tim B. Bigdeli, Donald W. Black, Richard Bruggeman, Nancy G. Buccola, Randy L. Buckner, William Byerley, Wiepke Cahn, Guiqing Cai, Dominique Campion, Rita M. Cantor, Vaughan J. Carr, Noa Carrera, Stanley V. Catts, Kimberly D. Chambert, Raymond C.K. Chan, Ronald Y.L. Chen, Eric Y.H. Chen, Wei Cheng, Eric F.C. Cheung, Siow Ann Chong, C. Robert Cloninger, David Cohen, Nadine Cohen, Paul Cormican, Nick Craddock, James J. Crowley, David Curtis, Michael Davidson, Kenneth L. Davis, Jurgen Del Favero, Ditte Demontis, Dimitris Dikeos, Timothy Dinan, Gary Donohoe, Elodie Drapeau, Jubao Duan, Frank Dudbridge, Naser Durmishi, Peter Eichhammer, Johan Eriksson, Valentina Escott-Price, Laurent Essioux, Ayman H. Fanous, Martilias S. Farrell, Josef Frank, Lude Franke, Robert Freedman, Nelson B. Freimer, Marion Friedl, Joseph I. Friedman, Menachem Fromer, Giulio Genovese, Lyudmila Georgieva, Paola Giusti-Rodríguez, Stephanie Godard, Jacqueline I. Goldstein, Vera Golimbet, Srihari Gopal, Jacob Gratten, Lieuwe de Haan, Christian Hammer, Mark Hansen, Thomas Hansen, Vahram Haroutunian, Frans A. Henskens, Stefan Herms, Joel N. Hirschhorn, Per Hoffmann, Andrea Hofman, Mads V. Hollegaard, Masashi Ikeda, Inge Joa, Antonio Julià, René S. Kahn, Luba Kalaydjieva, Sena Karachanak-Yankova, Juha Karjalainen, David Kavanagh, Matthew C. Keller, James L. Kennedy, Andrey Khrunin, Yunjung Kim, Janis Klovins, Vaidutis Kucinskas, Zita Ausrele Kucinskiene, Hana Kuzelova-Ptackova, Anna K. Kähler, Claudine Laurent, Jimmy Lee Chee Keong, S. Hong Lee, Sophie E. Legge, Bernard Lerer, Miaoxin Li, Tao Li, Kung-Yee Liang, Jeffrey Lieberman, Svetlana Limborska, Carmel M. Loughland, Jan Lubinski, Jouko Lönnqvist, Milan Macek, Brion S. Maher, Wolfgang Maier, Jacques Mallet, Sara Marsal, Manuel Mattheisen, Morten Mattingsdal, Robert W. McCarley, Colm McDonald, Sandra Meier, Carin J. Meijer, Bela Melegh, Raquelle I. Mesholam-Gately, Andres Metspalu, Patricia T. Michie, Vihra Milanova, Younes Mokrab, Derek W. Morris, Kieran C. Murphy, Inez Myin-Germeys, Mari Nelis, Igor Nenadic, Deborah A. Nertney, Gerald Nestadt, Kristin K. Nicodemus, Liene Nikitina-Zake, Laura Nisenbaum, Annelie Nordin, Eadbhard O’Callaghan, Colm O’Dushlaine, F. Anthony O’Neill, Sang-Yun Oh, Ann Olincy, Line Olsen, Jim Van Os, Christos Pantelis, George N. Papadimitriou, Sergi Papiol, Elena Parkhomenko, Tiina Paunio, Milica Pejovic-Milovancevic, Diana O. Perkins, Olli Pietiläinen, Jonathan Pimm, Andrew J. Pocklington, John Powell, Alkes Price, Ann E. Pulver, Shaun M. Purcell, Digby Quested, Henrik B. Rasmussen, Abraham Reichenberg, Mark A. Reimers, Alexander L. Richards, Joshua L. Roffman, Panos Roussos, Douglas M. Ruderfer, Veikko Salomaa, Ulrich Schall, Christian R. Schubert, Sibylle G. Schwab, Edward M. Scolnick, Rodney J. Scott, Larry J. Seidman, Engilbert Sigurdsson, Teimuraz Silagadze, Jeremy M. Silverman, Kang Sim, Petr Slominsky, Hon-Cheong So, Chris C.A. Spencer, Hreinn Stefansson, Stacy Steinberg, Elisabeth Stogmann, Richard E. Straub, Eric Strengman, Jana Strohmaier, T. Scott Stroup, Mythily Subramaniam, Jaana Suvisaari, Dragan M. Svrakic, Jin P. Szatkiewicz, Erik Söderman, Srinivas Thirumalai, Draga Toncheva, Sarah Tosato, Juha Veijola, John Waddington, Dermot Walsh, Dai Wang, Qiang Wang, Bradley T. Webb, Mark Weiser, Dieter B. Wildenauer, Nigel M. Williams, Stephanie Williams, Stephanie H. Witt, Aaron R. Wolen, Emily H.M. Wong, Brandon K. Wormley, Hualin Simon Xi, Clement C. Zai, Xuebin Zheng, Fritz Zimprich, Naomi R. Wray, Kari Stefansson, Peter M. Visscher, Douglas H.R. Blackwood, Ariel Darvasi, Enrico Domenici, Michael Gill, Hugh Gurling, Christina M. Hultman, Assen V. Jablensky, Kenneth S. Kendler, Jo Knight, Qingqin S. Li, Jianjun Liu, Steven A. McCarroll, Jennifer L. Moran, Michael J. Owen, Carlos N. Pato, Danielle Posthuma, Pamela Sklar, Jens R. Wendland, Mark J. Daly, Michael C. O’Donovan, Peter Donnelly, Ines Barroso, Jenefer M. Blackwell, Matthew A. Brown, Juan P. Casas, Panos Deloukas, Audrey Duncanson, Janusz Jankowski, Hugh S. Markus, Christopher G. Mathew, Colin N.A. Palmer, Robert Plomin, Anna Rautanen, Stephen J. Sawcer, Richard C. Trembath, Ananth C. Viswanathan, Nicholas W. Wood, Gavin Band, Céline Bellenguez, Colin Freeman, Eleni Giannoulatou, Garrett Hellenthal, Richard Pearson, Matti Pirinen, Amy Strange, Zhan Su, Damjan Vukcevic, Cordelia Langford, Hannah Blackburn, Suzannah J. Bumpstead, Serge Dronov, Sarah Edkins, Matthew Gillman, Emma Gray, Rhian Gwilliam, Naomi Hammond, Sarah E. Hunt, Alagurevathi Jayakumar, Jennifer Liddle, Owen T. McCann, Simon C. Potter, Radhi Ravindrarajah, Michelle Ricketts, Avazeh Tashakkori-Ghanbaria, Matthew Waller, Paul Weston, Pamela Whittaker, Sara Widaa, Mark I. McCarthy, Maria J. Arranz, Steven Bakker, Stephan Bender, Benedicto Crespo-Facorro, Jeremy Hall, Conrad Iyegbe, Stephen Lawrie, Kuang Lin, Don H. Linszen, Ignacio Mata, Muriel Walshe, Matthias Weisbrod, Durk Wiersma, Vassily Trubetskoy, Yunpeng Wang, Jonathan R.I. Coleman, Héléna A. Gaspar, Christiaan A. de Leeuw, Jennifer M. Whitehead Pavlides, Maciej Trzaskowski, Enda M. Byrne, Liam Abbott, Huda Akil, Diego Albani, Ney Alliey-Rodriguez, Adebayo Anjorin, Verneri Antilla, Swapnil Awasthi, Judith A. Badner, Marie Bækvad-Hansen, Jack D. Barchas, Nicholas Bass, Michael Bauer, Richard Belliveau, Carsten Bøcker Pedersen, Erlend Bøen, Marco P. Boks, James Boocock, Monika Budde, William Bunney, Margit Burmeister, Jonas Bybjerg-Grauholm, Miquel Casas, Felecia Cerrato, Kimberly Chambert, Alexander W. Charney, Danfeng Chen, Claire Churchhouse, Toni-Kim Clarke, William Coryell, David W. Craig, Cristiana Cruceanu, Piotr M. Czerski, Anders M. Dale, Simone de Jong, Jurgen Del-Favero, J. Raymond DePaulo, Amanda L. Dobbyn, Ashley Dumont, Torbjørn Elvsåshagen, Chun Chieh Fan, Sascha B. Fischer, Matthew Flickinger, Tatiana M. Foroud, Liz Forty, Christine Fraser, Katrin Gade, Diane Gage, Julie Garnham, Claudia Giambartolomei, Marianne Giørtz Pedersen, Jaqueline Goldstein, Scott D. Gordon, Katherine Gordon-Smith, Elaine K. Green, Melissa J. Green, Tiffany A. Greenwood, Weihua Guan, Martin Hautzinger, Urs Heilbronner, Maria Hipolito, Dominic Holland, Laura Huckins, Jessica S. Johnson, Radhika Kandaswamy, Robert Karlsson, Sarah Kittel-Schneider, Anna C. Koller, Ralph Kupka, Catharina Lavebratt, Jacob Lawrence, William B. Lawson, Markus Leber, Phil H. Lee, Shawn E. Levy, Jun Z. Li, Chunyu Liu, Anna Maaser, Donald J. MacIntyre, Pamela B. Mahon, Lina Martinsson, Steve McCarroll, Peter McGuffin, Melvin G. McInnis, James D. McKay, Helena Medeiros, Sarah E. Medland, Fan Meng, Grant W. Montgomery, Thomas W. Mühleisen, Hoang Nguyen, Caroline M. Nievergelt, Annelie Nordin Adolfsson, Evaristus A. Nwulia, Claire O'Donovan, Loes M. Olde Loohuis, Anil P.S. Ori, Lilijana Oruc, Urban Ösby, Amy Perry, Andrea Pfennig, Eline J. Regeer, Céline S. Reinbold, John P. Rice, Fabio Rivas, Margarita Rivera, Euijung Ryu, Cristina Sánchez-Mora, Alan F. Schatzberg, William A. Scheftner, Nicholas J. Schork, Cynthia Shannon Weickert, Tatyana Shehktman, Paul D. Shilling, Claire Slaney, Janet L. Sobell, Christine Søholm Hansen, Anne T. Spijker, Michael Steffens, John S. Strauss, Szabolcs Szelinger, Robert C. Thompson, Thorgeir E. Thorgeirsson, Jens Treutlein, Helmut Vedder, Weiqing Wang, Stanley J. Watson, Thomas W. Weickert, Simon Xi, Wei Xu, Allan H. Young, Peter Zandi, Peng Zhang, Sebastian Zöllner, Abdel Abdellaoui, Tracy M. Air, Till F.M. Andlauer, Silviu-Alin Bacanu, Aartjan T.F. Beekman, Elisabeth B. Binder, Julien Bryois, Henriette N. Buttenschøn, Na Cai, Enrique Castelao, Jane Hvarregaard Christensen, Lucía Colodro-Conde, Baptiste Couvy-Duchesne, Gregory E. Crawford, Gail Davies, Ian J. Deary, Eske M. Derks, Nese Direk, Conor V. Dolan, Erin C. Dunn, Thalia C. Eley, Farnush Farhadi Hassan Kiadeh, Hilary K. Finucane, Jerome C. Foo, Fernando S. Goes, Lynsey S. Hall, Thomas F. Hansen, Ian B. Hickie, Georg Homuth, Carsten Horn, David M. Howard, Marcus Ising, Rick Jansen, Ian Jones, Lisa A. Jones, Eric Jorgenson, Isaac S. Kohane, Julia Kraft, Warren W. Kretzschmar, Zoltán Kutalik, Yihan Li, Penelope A. Lind, Dean F. MacKinnon, Robert M. Maier, Jonathan Marchini, Hamdi Mbarek, Patrick McGrath, Christel M. Middeldorp, Evelin Mihailov, Francis M. Mondimore, Sara Mostafavi, Matthias Nauck, Bernard Ng, Michel G. Nivard, Dale R. Nyholt, Paul F. O'Reilly, Hogni Oskarsson, Jodie N. Painter, Roseann E. Peterson, Wouter J. Peyrot, Giorgio Pistis, Jorge A. Quiroz, Per Qvist, Saira Saeed Mirza, Robert Schoevers, Eva C. Schulte, Ling Shen, Stanley I. Shyn, Grant C.B. Sinnamon, Johannes H. Smit, Daniel J. Smith, Katherine E. Tansey, Henning Teismann, Wesley Thompson, Pippa A. Thomson, Matthew Traylor, André G. Uitterlinden, Daniel Umbricht, Albert M. van Hemert, Shantel Marie Weinsheimer, Jürgen Wellmann, Yang Wu, Hualin S. Xi, Jian Yang, Futao Zhang, Volker Arolt, Klaus Berger, Udo Dannlowski, Katharina Domschke, Caroline Hayward, Andrew C. Heath, Stefan Kloiber, Glyn Lewis, Pamela AF. Madden, Patrik K. Magnusson, Preben Bo Mortensen, Michael C. O'Donovan, Sara A. Paciga, Nancy L. Pedersen, David J. Porteous, Catherine Schaefer, Henry Völzke, Marco Bortolato, Janita Bralten, Cynthia M. Bulik, Christie L. Burton, Caitlin E. Carey, Lea K. Davis, Laramie E. Duncan, Howard J. Edenberg, Lauren Erdman, Stephen V. Faraone, Slavina B. Goleva, Wei Guo, Christopher Hübel, Laura M. Huckins, Ekaterina A. Khramtsova, Joanna Martin, Carol A. Mathews, Elise Robinson, Eli Stahl, Barbara E. Stranger, Michela Traglia, Raymond K. Walters, Lauren A. Weiss, Stacey J. Winham, Yin Yao, Kristjar Skajaa, Markus Nöthen, Michael Owen, Robert H. Yolken, Niels Plath, Jonathan Mill, Daniel Geschwind, Psychiatry 1, RS: MHeNs - R2 - Mental Health, Psychiatrie & Neuropsychologie, Centre of Excellence in Complex Disease Genetics, Research Programme of Molecular Medicine, Research Programs Unit, Aarno Palotie / Principal Investigator, Institute for Molecular Medicine Finland, Genomics of Neurological and Neuropsychiatric Disorders, Functional Genomics, Biological Psychology, APH - Mental Health, APH - Methodology, Sociology and Social Gerontology, APH - Personalized Medicine, APH - Health Behaviors & Chronic Diseases, Blokland, Gabriella AM, Grove, Jakob, Chen, Chia Yen, Cotsapas, Chris, Tobet, Stuart, Handa, Robert, Lee, Sang Hong, Schizophrenia Working Group of the Psychiatric Genomics Consortium, Bipolar Disorder Working Group of the Psychiatric Genomics Consortium, Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium, Sex Differences Cross-Disorder Analysis Group of the Psychiatric Genomics Consortium, iPSYCH, Psychiatry, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Neuroscience - Mood, Anxiety, Psychosis, Stress & Sleep, Human genetics, Amsterdam Neuroscience - Compulsivity, Impulsivity & Attention, Amsterdam Reproduction & Development (AR&D), Child and Adolescent Psychiatry / Psychology, Adult Psychiatry, ANS - Complex Trait Genetics, and ANS - Mood, Anxiety, Psychosis, Stress & Sleep
Subjects: 0301 basic medicine, Male, Bipolar Disorder, Schizophrenia/genetics, LD SCORE REGRESSION, Genome-wide association study, 0302 clinical medicine, Receptors, SCHIZOPHRENIA, Psychotic Disorders/genetics, KYNURENINE PATHWAY METABOLISM, Genetics, RISK, Sex Characteristics, Vascular Endothelial Growth Factor, Bipolar Disorder/genetics, Major/genetics, Single Nucleotide, AFFECTIVE STIMULI IMPACT, Schizophrenia, Sulfurtransferases, Major depressive disorder, Female, Depressive Disorder, Major/genetics, Bipolar disorder, Locus (genetics), Genomics, Biology, Polymorphism, Single Nucleotide, Article, DYSPHORIC MOOD, 03 medical and health sciences, Sex differences, medicine, Humans, Genetic Predisposition to Disease, ddc:610, Polymorphism, GENOME-WIDE ASSOCIATION, Genotype-by-sex interaction, Biological Psychiatry, Depressive Disorder, Major, Depressive Disorder, GENDER-DIFFERENCES, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], PARAVENTRICULAR NUCLEUS, 3112 Neurosciences, Endothelial Cells, MAJOR DEPRESSION, medicine.disease, Genetic architecture, 030104 developmental biology, Mood, Receptors, Vascular Endothelial Growth Factor, Psychotic Disorders, 3111 Biomedicine, 030217 neurology & neurosurgery, Genome-Wide Association Study
Abstract: Contains fulltext : 248656.pdf (Publisher’s version ) (Closed access) BACKGROUND: Sex differences in incidence and/or presentation of schizophrenia (SCZ), major depressive disorder (MDD), and bipolar disorder (BIP) are pervasive. Previous evidence for shared genetic risk and sex differences in brain abnormalities across disorders suggest possible shared sex-dependent genetic risk. METHODS: We conducted the largest to date genome-wide genotype-by-sex (G×S) interaction of risk for these disorders using 85,735 cases (33,403 SCZ, 19,924 BIP, and 32,408 MDD) and 109,946 controls from the PGC (Psychiatric Genomics Consortium) and iPSYCH. RESULTS: Across disorders, genome-wide significant single nucleotide polymorphism-by-sex interaction was detected for a locus encompassing NKAIN2 (rs117780815, p = 3.2 × 10(-8)), which interacts with sodium/potassium-transporting ATPase (adenosine triphosphatase) enzymes, implicating neuronal excitability. Three additional loci showed evidence (p < 1 × 10(-6)) for cross-disorder G×S interaction (rs7302529, p = 1.6 × 10(-7); rs73033497, p = 8.8 × 10(-7); rs7914279, p = 6.4 × 10(-7)), implicating various functions. Gene-based analyses identified G×S interaction across disorders (p = 8.97 × 10(-7)) with transcriptional inhibitor SLTM. Most significant in SCZ was a MOCOS gene locus (rs11665282, p = 1.5 × 10(-7)), implicating vascular endothelial cells. Secondary analysis of the PGC-SCZ dataset detected an interaction (rs13265509, p = 1.1 × 10(-7)) in a locus containing IDO2, a kynurenine pathway enzyme with immunoregulatory functions implicated in SCZ, BIP, and MDD. Pathway enrichment analysis detected significant G×S interaction of genes regulating vascular endothelial growth factor receptor signaling in MDD (false discovery rate-corrected p < .05). CONCLUSIONS: In the largest genome-wide G×S analysis of mood and psychotic disorders to date, there was substantial genetic overlap between the sexes. However, significant sex-dependent effects were enriched for genes related to neuronal development and immune and vascular functions across and within SCZ, BIP, and MDD at the variant, gene, and pathway levels.
Published: 2022
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40. SIFTS: Structure Integration with Function, Taxonomy and Sequences resource.

Author: Sameer Velankar, Jose M. Dana, Julius O. B. Jacobsen, Glen van Ginkel, Paul J. Gane, Jie Luo, Thomas J. Oldfield, Claire O'Donovan, Maria Jesus Martin, and Gerard J. Kleywegt
Published: 2013
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41. The EBI enzyme portal.

Author: Rafael Alcántara, Joseph Onwubiko, Hong Cao, Paula de Matos, Jennifer A. Cham, Julius O. B. Jacobsen, Gemma L. Holliday, Julia D. Fischer, Syed Asad Rahman, Bijay Jassal, Mickael Goujon, Francis Rowland, Sameer Velankar, Rodrigo Lopez, John P. Overington, Gerard J. Kleywegt, Henning Hermjakob, Claire O'Donovan, Maria Jesus Martin, Janet M. Thornton, and Christoph Steinbeck
Published: 2013
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42. Association between polarity of first episode and solar insolation in bipolar I disorder

Author: Michael Bauer, Tasha Glenn, Eric D. Achtyes, Martin Alda, Esen Agaoglu, Kürşat Altınbaş, Ole A. Andreassen, Elias Angelopoulos, Raffaella Ardau, Memduha Aydin, Yavuz Ayhan, Christopher Baethge, Rita Bauer, Bernhard T. Baune, Ceylan Balaban, Claudia Becerra-Palars, Aniruddh P. Behere, Prakash B. Behere, Habte Belete, Tilahun Belete, Gabriel Okawa Belizario, Frank Bellivier, Robert H. Belmaker, Francesco Benedetti, Michael Berk, Yuly Bersudsky, Şule Bicakci, Harriet Birabwa-Oketcho, Thomas D. Bjella, Conan Brady, Jorge Cabrera, Marco Cappucciati, Angela Marianne Paredes Castro, Wei-Ling Chen, Eric Y.W. Cheung, Silvia Chiesa, Marie Crowe, Alessandro Cuomo, Sara Dallaspezia, Maria Del Zompo, Pratikkumar Desai, Seetal Dodd, Bruno Etain, Andrea Fagiolini, Frederike T. Fellendorf, Ewa Ferensztajn-Rochowiak, Jess G. Fiedorowicz, Kostas N. Fountoulakis, Mark A. Frye, Pierre A. Geoffroy, Ana Gonzalez-Pinto, John F. Gottlieb, Paul Grof, Bartholomeus C.M. Haarman, Hirohiko Harima, Mathias Hasse-Sousa, Chantal Henry, Lone Høffding, Josselin Houenou, Massimiliano Imbesi, Erkki T. Isometsä, Maja Ivkovic, Sven Janno, Simon Johnsen, Flávio Kapczinski, Gregory N. Karakatsoulis, Mathias Kardell, Lars Vedel Kessing, Seong Jae Kim, Barbara König, Timur L. Kot, Michael Koval, Mauricio Kunz, Beny Lafer, Mikael Landén, Erik R. Larsen, Melanie Lenger, Ute Lewitzka, Rasmus W. Licht, Carlos Lopez-Jaramillo, Alan MacKenzie, Helle Østergaard Madsen, Simone Alberte Kongstad A. Madsen, Jayant Mahadevan, Agustine Mahardika, Mirko Manchia, Wendy Marsh, Monica Martinez-Cengotitabengoa, Klaus Martiny, Yuki Mashima, Declan M. McLoughlin, Ybe Meesters, Ingrid Melle, Fátima Meza-Urzúa, Yee Ming Mok, Scott Monteith, Muthukumaran Moorthy, Gunnar Morken, Enrica Mosca, Anton A. Mozzhegorov, Rodrigo Munoz, Starlin V. Mythri, Fethi Nacef, Ravi K. Nadella, Takako Nakanotani, René Ernst Nielsen, Claire O'Donovan, Adel Omrani, Yamima Osher, Uta Ouali, Maja Pantovic-Stefanovic, Pornjira Pariwatcharakul, Joanne Petite, Andrea Pfennig, Yolanda Pica Ruiz, Marco Pinna, Maurizio Pompili, Richard Porter, Danilo Quiroz, Francisco Diego Rabelo-da-Ponte, Raj Ramesar, Natalie Rasgon, Woraphat Ratta-apha, Michaela Ratzenhofer, Maria Redahan, M.S. Reddy, Andreas Reif, Eva Z. Reininghaus, Jenny Gringer Richards, Philipp Ritter, Janusz K. Rybakowski, Leela Sathyaputri, Ângela M. Scippa, Christian Simhandl, Daniel Smith, José Smith, Paul W. Stackhouse, Dan J. Stein, Kellen Stilwell, Sergio Strejilevich, Kuan-Pin Su, Mythily Subramaniam, Ahmad Hatim Sulaiman, Kirsi Suominen, Andi J. Tanra, Yoshitaka Tatebayashi, Wen Lin Teh, Leonardo Tondo, Carla Torrent, Daniel Tuinstra, Takahito Uchida, Arne E. Vaaler, Eduard Vieta, Biju Viswanath, Maria Yoldi-Negrete, Oguz Kaan Yalcinkaya, Allan H. Young, Yosra Zgueb, Peter C. Whybrow, Clinical Cognitive Neuropsychiatry Research Program (CCNP), Bauer, Michael, Glenn, Tasha, Achtyes, Eric D, Alda, Martin, Agaoglu, Esen, Altınbaş, Kürşat, Andreassen, Ole A, Angelopoulos, Elia, Ardau, Raffaella, Aydin, Memduha, Ayhan, Yavuz, Baethge, Christopher, Bauer, Rita, Baune, Bernhard T, Balaban, Ceylan, Becerra-Palars, Claudia, Behere, Aniruddh P, Behere, Prakash B, Belete, Habte, Belete, Tilahun, Belizario, Gabriel Okawa, Bellivier, Frank, Belmaker, Robert H, Benedetti, Francesco, Berk, Michael, Bersudsky, Yuly, Bicakci, Şule, Birabwa-Oketcho, Harriet, Bjella, Thomas D, Brady, Conan, Cabrera, Jorge, Cappucciati, Marco, Castro, Angela Marianne Parede, Chen, Wei-Ling, Cheung, Eric Y W, Chiesa, Silvia, Crowe, Marie, Cuomo, Alessandro, Dallaspezia, Sara, Del Zompo, Maria, Desai, Pratikkumar, Dodd, Seetal, Etain, Bruno, Fagiolini, Andrea, Fellendorf, Frederike T, Ferensztajn-Rochowiak, Ewa, Fiedorowicz, Jess G, Fountoulakis, Kostas N, Frye, Mark A, Geoffroy, Pierre A, Gonzalez-Pinto, Ana, Gottlieb, John F, Grof, Paul, Haarman, Bartholomeus C M, Harima, Hirohiko, Hasse-Sousa, Mathia, Henry, Chantal, Høffding, Lone, Houenou, Josselin, Imbesi, Massimiliano, Isometsä, Erkki T, Ivkovic, Maja, Janno, Sven, Johnsen, Simon, Kapczinski, Flávio, Karakatsoulis, Gregory N, Kardell, Mathia, Kessing, Lars Vedel, Kim, Seong Jae, König, Barbara, Kot, Timur L, Koval, Michael, Kunz, Mauricio, Lafer, Beny, Landén, Mikael, Larsen, Erik R, Lenger, Melanie, Lewitzka, Ute, Licht, Rasmus W, Lopez-Jaramillo, Carlo, Mackenzie, Alan, Madsen, Helle Østergaard, Madsen, Simone Alberte Kongstad A, Mahadevan, Jayant, Mahardika, Agustine, Manchia, Mirko, Marsh, Wendy, Martinez-Cengotitabengoa, Monica, Martiny, Klau, Mashima, Yuki, Mcloughlin, Declan M, Meesters, Ybe, Melle, Ingrid, Meza-Urzúa, Fátima, Mok, Yee Ming, Monteith, Scott, Moorthy, Muthukumaran, Morken, Gunnar, Mosca, Enrica, Mozzhegorov, Anton A, Munoz, Rodrigo, Mythri, Starlin V, Nacef, Fethi, Nadella, Ravi K, Nakanotani, Takako, Nielsen, René Ernst, O'Donovan, Claire, Omrani, Adel, Osher, Yamima, Ouali, Uta, Pantovic-Stefanovic, Maja, Pariwatcharakul, Pornjira, Petite, Joanne, Pfennig, Andrea, Ruiz, Yolanda Pica, Pinna, Marco, Pompili, Maurizio, Porter, Richard, Quiroz, Danilo, Rabelo-da-Ponte, Francisco Diego, Ramesar, Raj, Rasgon, Natalie, Ratta-Apha, Woraphat, Ratzenhofer, Michaela, Redahan, Maria, Reddy, M S, Reif, Andrea, Reininghaus, Eva Z, Richards, Jenny Gringer, Ritter, Philipp, Rybakowski, Janusz K, Sathyaputri, Leela, Scippa, Ângela M, Simhandl, Christian, Smith, Daniel, Smith, José, Stackhouse, Paul W, Stein, Dan J, Stilwell, Kellen, Strejilevich, Sergio, Su, Kuan-Pin, Subramaniam, Mythily, Sulaiman, Ahmad Hatim, Suominen, Kirsi, Tanra, Andi J, Tatebayashi, Yoshitaka, Teh, Wen Lin, Tondo, Leonardo, Torrent, Carla, Tuinstra, Daniel, Uchida, Takahito, Vaaler, Arne E, Vieta, Eduard, Viswanath, Biju, Yoldi-Negrete, Maria, Yalcinkaya, Oguz Kaan, Young, Allan H, Zgueb, Yosra, and Whybrow, Peter C
Subjects: Bipolar Disorder/complications, Male, Polarity, Bipolar disorder, Circadian rhythm, Depression, Psychiatry and Mental health, Clinical Psychology, Solar insolation, Sunlight, Humans, Female, Seasons
Abstract: OBJECTIVE: Circadian rhythm disruption is commonly observed in bipolar disorder (BD). Daylight is the most powerful signal to entrain the human circadian clock system. This exploratory study investigated if solar insolation at the onset location was associated with the polarity of the first episode of BD I. Solar insolation is the amount of electromagnetic energy from the Sun striking a surface area of the Earth.METHODS: Data from 7488 patients with BD I were collected at 75 sites in 42 countries. The first episode occurred at 591 onset locations in 67 countries at a wide range of latitudes in both hemispheres. Solar insolation values were obtained for every onset location, and the ratio of the minimum mean monthly insolation to the maximum mean monthly insolation was calculated. This ratio is largest near the equator (with little change in solar insolation over the year), and smallest near the poles (where winter insolation is very small compared to summer insolation). This ratio also applies to tropical locations which may have a cloudy wet and clear dry season, rather than winter and summer.RESULTS: The larger the change in solar insolation throughout the year (smaller the ratio between the minimum monthly and maximum monthly values), the greater the likelihood the first episode polarity was depression. Other associated variables were being female and increasing percentage of gross domestic product spent on country health expenditures. (All coefficients: P ≤ 0.001).CONCLUSION: Increased awareness and research into circadian dysfunction throughout the course of BD is warranted.
Published: 2022
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43. Perspectives and experiences of Māori and Pasifika peoples living with cardiac inherited disease: a qualitative study

Author: Jessee Fia’Ali’i, Mikaela Law, Claire O’Donovan, Jonathan R. Skinner, and Elizabeth Broadbent
Subjects: Public Health, Environmental and Occupational Health, General Medicine, General Chemistry, Applied Psychology
Abstract: Cardiac inherited diseases can have considerable psychosocial effects, including lifestyle limitations, anxiety and depression. Most research to date on patient experiences of CID has been conducted with people from Western cultures, yet culture can shape patient views and experiences of health. The aim of this research was to explore the experiences and perspectives of Māori and Pasifika living with a cardiac inherited disease (CID).Semi-structured interviews were conducted with 14 Māori and 14 Pasifika patients living with a cardiac inherited disease and seven of their family members, using Talanoa and Kaupapa Māori methodologies. Themes from the interviews were identified using interpretative phenomenological analysis.Three common themes were identified as important in shaping participants' perceptions and experiences of CID: (1) difficulty in understanding the disease as separate from symptoms, (2) considering ancestors and future generations and (3) the role of spirituality and religion.This study highlights a gap between indigenous patients' understanding of CID and the western biomedical approach. Patients' understanding and treatment behaviours depend on symptoms, familial ties and spirituality. The findings support the need for transparency and culturally appropriate practices in healthcare. Considering these aspects may help to reduce health inequities for these populations.
Published: 2022

44. The UniProt-GO Annotation database in 2011.

Author: Emily C. Dimmer, Rachael P. Huntley, Yasmin Alam-Faruque, Tony Sawford, Claire O'Donovan, Maria Jesus Martin, Benoit Bely, Paul Browne, Wei Mun Chan, Ruth Y. Eberhardt, Michael Gardner, Kati Laiho, Duncan Legge, Michele Magrane, Klemens Pichler, Diego Poggioli, Harminder Sehra, Andrea H. Auchincloss, Kristian B. Axelsen, Marie-Claude Blatter, Emmanuel Boutet, Silvia Braconi-Quintaje, Lionel Breuza, Alan J. Bridge, Elisabeth Coudert, Anne Estreicher, Maria Livia Famiglietti, Serenella Ferro-Rojas, Marc Feuermann, Arnaud Gos, Nadine Gruaz-Gumowski, Ursula Hinz, Chantal Hulo, Janet James, Silvia Jimenez, Florence Jungo, Guillaume Keller, Phillippe Lemercier, Damien Lieberherr, Patrick Masson, Madelaine Moinat, Ivo Pedruzzi, Sylvain Poux, Catherine Rivoire, Bernd Roechert, Michel Schneider, Andre Stutz, Shyamala Sundaram, Michael Tognolli, Lydie Bougueleret, Ghislaine Argoud-Puy, Isabelle Cusin, Paula Duek Roggli, Ioannis Xenarios, and Rolf Apweiler
Published: 2012
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45. Differentiating mania/hypomania from happiness using a machine learning analytic approach

Author: Michael J. Spoelma, Claire O'Donovan, Gabriela Tavella, Gordon Parker, Vijaya Manicavasagar, Adam Bayes, Philip Boyce, Joseph F. Goldberg, David L. Dunner, Verinder Sharma, Janusz K. Rybakowski, Tomas Hajek, and Martin Alda
Subjects: Bipolar Disorder, media_common.quotation_subject, Happiness, Sample (statistics), Machine learning, computer.software_genre, behavioral disciplines and activities, Machine Learning, 03 medical and health sciences, 0302 clinical medicine, mental disorders, medicine, Humans, Bipolar disorder, Medical diagnosis, Set (psychology), Depression (differential diagnoses), media_common, Depressive Disorder, business.industry, medicine.disease, 030227 psychiatry, Mania, Psychiatry and Mental health, Clinical Psychology, Hypomania, Artificial intelligence, medicine.symptom, Psychology, business, computer, 030217 neurology & neurosurgery
Abstract: Background This study aimed to improve the accuracy of bipolar disorder diagnoses by identifying symptoms that help to distinguish mania/hypomania in bipolar disorders from general ‘happiness’ in those with unipolar depression. Methods An international sample of 165 bipolar and 29 unipolar depression patients (as diagnosed by their clinician) were recruited. All participants were required to rate a set of 96 symptoms with regards to whether they typified their experiences of manic/hypomanic states (for bipolar patients) or when they were ‘happy’ (unipolar patients). A machine learning paradigm (prediction rule ensembles; PREs) was used to derive rule ensembles that identified which of the 94 non-psychotic symptoms and their combinations best predicted clinically-allocated diagnoses. Results The PREs were highly accurate at predicting clinician bipolar and unipolar diagnoses (92% and 91% respectively). A total of 20 items were identified from the analyses, which were all highly discriminating across the two conditions. When compared to a classificatory approach insensitive to the weightings of the items, the ensembles were of comparable accuracy in their discriminatory capacity despite the unbalanced sample. This illustrates the potential for PREs to supersede traditional classificatory approaches. Limitations There were considerably less unipolar than bipolar patients in the sample, which limited the overall accuracy of the PREs. Conclusions The consideration of symptoms outlined in this study should assist clinicians in distinguishing between bipolar and unipolar disorders. Future research will seek to further refine and validate these symptoms in a larger and more balanced sample.
Published: 2021
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46. The GOA database in 2009 - an integrated Gene Ontology Annotation resource.

Author: Daniel Barrell, Emily Dimmer, Rachael P. Huntley, David Binns, Claire O'Donovan, and Rolf Apweiler
Published: 2009
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47. UniRule: a unified rule resource for automatic annotation in the UniProt Knowledgebase

Author: Elena Speretta, Marc Feuermann, Paul Denny, Yvonne Lussi, Antonia Lock, Alexandr Ignatchenko, Philippe Le Mercier, Dushyanth Jyothi, Alexandre Renaux, Ivo Pedruzzi, Emmanuel Boutet, Emanuele Alpi, Claire O'Donovan, Edward Turner, Sandra Orchard, Patrick Masson, Alex Bateman, Peter McGarvey, Emma Hatton-Ellis, Michele Magrane, Alan Bridge, Hema Bye-A-Jee, Ramona Britto, Giuseppe Insana, Shriya Raj, Maria-Jesus Martin, Catherine Rivoire, Penelope Garmiri, Emily Bowler-Barnett, Vishal Joshi, Kate Warner, and Faculty of Sciences and Bioengineering Sciences
Subjects: InterPro, Statistics and Probability, Protein family, AcademicSubjects/SCI01060, Computer science, Knowledge Bases, Databases and Ontologies, Biochemistry, DNA sequencing, 03 medical and health sciences, Annotation, Resource (project management), Databases, Protein, Gene, Molecular Biology, 030304 developmental biology, 0303 health sciences, Information retrieval, 030302 biochemistry & molecular biology, Chromosome Mapping, Proteins, Molecular Sequence Annotation, Corrigenda, Original Papers, Computer Science Applications, Computational Mathematics, Functional annotation, Computational Theory and Mathematics, UniProt Knowledgebase, UniProt
Abstract: Motivation The number of protein records in the UniProt Knowledgebase (UniProtKB: https://www.uniprot.org) continues to grow rapidly as a result of genome sequencing and the prediction of protein-coding genes. Providing functional annotation for these proteins presents a significant and continuing challenge. Results In response to this challenge, UniProt has developed a method of annotation, known as UniRule, based on expertly curated rules, which integrates related systems (RuleBase, HAMAP, PIRSR, PIRNR) developed by the members of the UniProt consortium. UniRule uses protein family signatures from InterPro, combined with taxonomic and other constraints, to select sets of reviewed proteins which have common functional properties supported by experimental evidence. This annotation is propagated to unreviewed records in UniProtKB that meet the same selection criteria, most of which do not have (and are never likely to have) experimentally verified functional annotation. Release 2020_01 of UniProtKB contains 6496 UniRule rules which provide annotation for 53 million proteins, accounting for 30% of the 178 million records in UniProtKB. UniRule provides scalable enrichment of annotation in UniProtKB. Availability and implementation UniRule rules are integrated into UniProtKB and can be viewed at https://www.uniprot.org/unirule/. UniRule rules and the code required to run the rules, are publicly available for researchers who wish to annotate their own sequences. The implementation used to run the rules is known as UniFIRE and is available at https://gitlab.ebi.ac.uk/uniprot-public/unifire.
Published: 2020

48. Open Access Repository-Scale Propagated Nearest Neighbor Suspect Spectral Library for Untargeted Metabolomics

Author: Wout Bittremieux, Nicole E. Avalon, Sydney P. Thomas, Sarvar A. Kakhkhorov, Alexander A. Aksenov, Paulo Wender P. Gomes, Christine M. Aceves, Andrés Mauricio Caraballo Rodríguez, Julia M. Gauglitz, William H. Gerwick, Alan K. Jarmusch, Rima F. Kaddurah-Daouk, Kyo Bin Kang, Hyun Woo Kim, Todor Kondić, Helena Mannochio-Russo, Michael J. Meehan, Alexey V. Melnik, Louis-Felix Nothias, Claire O’Donovan, Morgan Panitchpakdi, Daniel Petras, Robin Schmid, Emma L. Schymanski, Justin J. J. van der Hooft, Kelly C. Weldon, Heejung Yang, Jasmine Zemlin, Mingxun Wang, and Pieter C. Dorrestein
Abstract: Despite the increasing availability of tandem mass spectrometry (MS/MS) community spectral libraries for untargeted metabolomics over the past decade, the majority of acquired MS/MS spectra remain uninterpreted. To further aid in interpreting unannotated spectra, we created a nearest neighbor suspect spectral library, consisting of 87,916 annotated MS/MS spectra derived from hundreds of millions of public MS/MS spectra. Annotations were propagated based on structural relationships to reference molecules using MS/MS-based spectrum alignment. We demonstrate the broad relevance of the nearest neighbor suspect spectral library through representative examples of propagation-based annotation of acylcarnitines, bacterial and plant natural products, and drug metabolism. Our results also highlight how the library can help to better understand an Alzheimer’s brain phenotype. The nearest neighbor suspect spectral library is openly available through the GNPS platform to help investigators hypothesize candidate structures for unknown MS/MS spectra in untargeted metabolomics data.
Published: 2022
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49. Using polygenic scores and clinical data for bipolar disorder patient stratification and lithium response prediction: machine learning approach - CORRIGENDUM

Author: Micah, Cearns, Azmeraw T, Amare, Klaus Oliver, Schubert, Anbupalam, Thalamuthu, Joseph, Frank, Fabian, Streit, Mazda, Adli, Nirmala, Akula, Kazufumi, Akiyama, Raffaella, Ardau, Bárbara, Arias, JeanMichel, Aubry, Lena, Backlund, Abesh Kumar, Bhattacharjee, Frank, Bellivier, Antonio, Benabarre, Susanne, Bengesser, Joanna M, Biernacka, Armin, Birner, Clara, Brichant-Petitjean, Pablo, Cervantes, HsiChung, Chen, Caterina, Chillotti, Sven, Cichon, Cristiana, Cruceanu, Piotr M, Czerski, Nina, Dalkner, Alexandre, Dayer, Franziska, Degenhardt, Maria Del, Zompo, J Raymond, DePaulo, Bruno, Étain, Peter, Falkai, Andreas J, Forstner, Louise, Frisen, Mark A, Frye, Janice M, Fullerton, Sébastien, Gard, Julie S, Garnham, Fernando S, Goes, Maria, Grigoroiu-Serbanescu, Paul, Grof, Ryota, Hashimoto, Joanna, Hauser, Urs, Heilbronner, Stefan, Herms, Per, Hoffmann, Andrea, Hofmann, Liping, Hou, Yi-Hsiang, Hsu, Stephane, Jamain, Esther, Jiménez, Jean-Pierre, Kahn, Layla, Kassem, Po-Hsiu, Kuo, Tadafumi, Kato, John, Kelsoe, Sarah, Kittel-Schneider, Sebastian, Kliwicki, Barbara, König, Ichiro, Kusumi, Gonzalo, Laje, Mikael, Landén, Catharina, Lavebratt, Marion, Leboyer, Susan G, Leckband, Mario, Maj, Mirko, Manchia, Lina, Martinsson, Michael J, McCarthy, Susan, McElroy, Francesc, Colom, Marina, Mitjans, Francis M, Mondimore, Palmiero, Monteleone, Caroline M, Nievergelt, Markus M, Nöthen, Tomas, Novák, Claire, O'Donovan, Norio, Ozaki, Vincent, Millischer, Sergi, Papiol, Andrea, Pfennig, Claudia, Pisanu, James B, Potash, Andreas, Reif, Eva, Reininghaus, Guy A, Rouleau, Janusz K, Rybakowski, Martin, Schalling, Peter R, Schofield, Barbara W, Schweizer, Giovanni, Severino, Tatyana, Shekhtman, Paul D, Shilling, Katzutaka, Shimoda, Christian, Simhandl, Claire M, Slaney, Alessio, Squassina, Thomas, Stamm, Pavla, Stopkova, Fasil, TekolaAyele, Alfonso, Tortorella, Gustavo, Turecki, Julia, Veeh, Eduard, Vieta, Stephanie H, Witt, Gloria, Roberts, Peter P, Zandi, Martin, Alda, Michael, Bauer, Francis J, McMahon, Philip B, Mitchell, Thomas G, Schulze, Marcella, Rietschel, Scott R, Clark, and Bernhard T, Baune
Subjects: Machine Learning, Psychiatry and Mental health, Depressive Disorder, Major, Depressive Disorder, Treatment-Resistant, Bipolar Disorder, Humans, Lithium
Published: 2022

50. The Protein Feature Ontology: a tool for the unification of protein feature annotations.

Author: Gabrielle A. Reeves, Karen Eilbeck, Michele Magrane, Claire O'Donovan, Luisa Montecchi-Palazzi, Midori A. Harris, Sandra E. Orchard, Rafael C. Jiménez, Andreas Prlic, Tim J. P. Hubbard, Henning Hermjakob, and Janet M. Thornton
Published: 2008
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