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A new species of the Ordovician horseshoe crab Lunataspis
- James C. Lamsdell, Phillip A. Isotalo, David M. Rudkin, Markus J. Martin
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- Journal:
- Geological Magazine / Volume 160 / Issue 1 / January 2023
- Published online by Cambridge University Press:
- 04 October 2022, pp. 167-171
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Horseshoe crabs as a group are renowned for their morphological conservatism punctuated by marked shifts in morphology associated with the occupation of non-marine environments and have been suggested to exhibit a consistent developmental trajectory throughout their evolutionary history. Here, we report a new species of horseshoe crab from the Ordovician (Late Sandbian) of Kingston, Ontario, Canada, from juvenile and adult material. This new species provides critical insight into the ontogeny and morphology of the earliest horseshoe crabs, indicating that at least some Palaeozoic forms had freely articulating tergites anterior to the fused thoracetron and an opisthosoma comprising 13 segments.
Using polygenic scores and clinical data for bipolar disorder patient stratification and lithium response prediction: machine learning approach – CORRIGENDUM
- 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, the 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, 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, Bernhard T. Baune
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- Journal:
- The British Journal of Psychiatry / Volume 221 / Issue 2 / August 2022
- Published online by Cambridge University Press:
- 04 May 2022, p. 494
- Print publication:
- August 2022
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Using polygenic scores and clinical data for bipolar disorder patient stratification and lithium response prediction: machine learning approach
- Micah Cearns, Azmeraw T. Amare, Klaus Oliver Schubert, Anbupalam Thalamuthu, Joseph Frank, Fabian Streit, 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, 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, the 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, 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 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, Scott R. Clark, Bernhard T. Baune
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- Journal:
- The British Journal of Psychiatry / Volume 220 / Issue 4 / April 2022
- Published online by Cambridge University Press:
- 28 February 2022, pp. 219-228
- Print publication:
- April 2022
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Background
Response to lithium in patients with bipolar disorder is associated with clinical and transdiagnostic genetic factors. The predictive combination of these variables might help clinicians better predict which patients will respond to lithium treatment.
AimsTo use a combination of transdiagnostic genetic and clinical factors to predict lithium response in patients with bipolar disorder.
MethodThis study utilised genetic and clinical data (n = 1034) collected as part of the International Consortium on Lithium Genetics (ConLi+Gen) project. Polygenic risk scores (PRS) were computed for schizophrenia and major depressive disorder, and then combined with clinical variables using a cross-validated machine-learning regression approach. Unimodal, multimodal and genetically stratified models were trained and validated using ridge, elastic net and random forest regression on 692 patients with bipolar disorder from ten study sites using leave-site-out cross-validation. All models were then tested on an independent test set of 342 patients. The best performing models were then tested in a classification framework.
ResultsThe best performing linear model explained 5.1% (P = 0.0001) of variance in lithium response and was composed of clinical variables, PRS variables and interaction terms between them. The best performing non-linear model used only clinical variables and explained 8.1% (P = 0.0001) of variance in lithium response. A priori genomic stratification improved non-linear model performance to 13.7% (P = 0.0001) and improved the binary classification of lithium response. This model stratified patients based on their meta-polygenic loadings for major depressive disorder and schizophrenia and was then trained using clinical data.
ConclusionsUsing PRS to first stratify patients genetically and then train machine-learning models with clinical predictors led to large improvements in lithium response prediction. When used with other PRS and biological markers in the future this approach may help inform which patients are most likely to respond to lithium treatment.
Interplay between the Genetics of Personality Traits, severe Psychiatric Disorders, and COVID-19 Host Genetics in the Susceptibility to SARS-CoV-2 Infection - ADDENDUM
- Urs Heilbronner, Fabian Streit, Thomas Vogl, Fanny Senner, Sabrina K. Schaupp, Daniela Reich-Erkelenz, Sergi Papiol, Mojtaba Oraki Kohshour, Farahnaz Klöhn-Saghatolislam, Janos L. Kalman, Maria Heilbronner, Katrin Gade, Ashley L. Comes, Monika Budde, Till F. M. Andlauer, Heike Anderson-Schmidt, Kristina Adorjan, Til Stürmer, Adrian Loerbroks, Manfred Amelang, Eric Poisel, Jerome Foo, Stefanie Heilmann-Heimbach, Andreas J. Forstner, Franziska Degenhardt, Jörg Zimmermann, Jens Wiltfang, Martin von Hagen, Carsten Spitzer, Max Schmauss, Eva Reininghaus, Jens Reimer, Carsten Konrad, Georg Juckel, Fabian U. Lang, Markus Jäger, Christian Figge, Andreas J. Fallgatter, Detlef E. Dietrich, Udo Dannlowski, Bernhardt T. Baune, Volker Arolt, Ion-George Anghelescu, Markus M. Nöthen, Stephanie H. Witt, Ole A. Andreassen, Chi-Hua Chen, Peter Falkai, Marcella Rietschel, Thomas G. Schulze, Eva C. Schulte
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- Journal:
- BJPsych Open / Volume 7 / Issue 6 / November 2021
- Published online by Cambridge University Press:
- 18 November 2021, e206
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Interplay between the genetics of personality traits, severe psychiatric disorders and COVID-19 host genetics in the susceptibility to SARS-CoV-2 infection
- Urs Heilbronner, Fabian Streit, Thomas Vogl, Fanny Senner, Sabrina K. Schaupp, Daniela Reich-Erkelenz, Sergi Papiol, Mojtaba Oraki Kohshour, Farahnaz Klöhn-Saghatolislam, Janos L. Kalman, Maria Heilbronner, Katrin Gade, Ashley L. Comes, Monika Budde, Till F. M. Andlauer, Heike Anderson-Schmidt, Kristina Adorjan, Til Stürmer, Adrian Loerbroks, Manfred Amelang, Eric Poisel, Jerome Foo, Stefanie Heilmann-Heimbach, Andreas J. Forstner, Franziska Degenhardt, Jörg Zimmermann, Jens Wiltfang, Martin von Hagen, Carsten Spitzer, Max Schmauss, Eva Reininghaus, Jens Reimer, Carsten Konrad, Georg Juckel, Fabian U. Lang, Markus Jäger, Christian Figge, Andreas J. Fallgatter, Detlef E. Dietrich, Udo Dannlowski, Bernhardt T. Baune, Volker Arolt, Ion-George Anghelescu, Markus M. Nöthen, Stephanie H. Witt, Ole A. Andreassen, Chi-Hua Chen, Peter Falkai, Marcella Rietschel, Thomas G. Schulze, Eva C. Schulte
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- Journal:
- BJPsych Open / Volume 7 / Issue 6 / November 2021
- Published online by Cambridge University Press:
- 07 October 2021, e188
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Background
The severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) pandemic, with its impact on our way of life, is affecting our experiences and mental health. Notably, individuals with mental disorders have been reported to have a higher risk of contracting SARS-CoV-2. Personality traits could represent an important determinant of preventative health behaviour and, therefore, the risk of contracting the virus.
AimsWe examined overlapping genetic underpinnings between major psychiatric disorders, personality traits and susceptibility to SARS-CoV-2 infection.
MethodLinkage disequilibrium score regression was used to explore the genetic correlations of coronavirus disease 2019 (COVID-19) susceptibility with psychiatric disorders and personality traits based on data from the largest available respective genome-wide association studies (GWAS). In two cohorts (the PsyCourse (n = 1346) and the HeiDE (n = 3266) study), polygenic risk scores were used to analyse if a genetic association between, psychiatric disorders, personality traits and COVID-19 susceptibility exists in individual-level data.
ResultsWe observed no significant genetic correlations of COVID-19 susceptibility with psychiatric disorders. For personality traits, there was a significant genetic correlation for COVID-19 susceptibility with extraversion (P = 1.47 × 10−5; genetic correlation 0.284). Yet, this was not reflected in individual-level data from the PsyCourse and HeiDE studies.
ConclusionsWe identified no significant correlation between genetic risk factors for severe psychiatric disorders and genetic risk for COVID-19 susceptibility. Among the personality traits, extraversion showed evidence for a positive genetic association with COVID-19 susceptibility, in one but not in another setting. Overall, these findings highlight a complex contribution of genetic and non-genetic components in the interaction between COVID-19 susceptibility and personality traits or mental disorders.
Characterisation of age and polarity at onset in bipolar disorder
- Janos L. Kalman, Loes M. Olde Loohuis, Annabel Vreeker, Andrew McQuillin, Eli A. Stahl, Douglas Ruderfer, Maria Grigoroiu-Serbanescu, Georgia Panagiotaropoulou, Stephan Ripke, Tim B. Bigdeli, Frederike Stein, Tina Meller, Susanne Meinert, Helena Pelin, Fabian Streit, Sergi Papiol, Mark J. Adams, Rolf Adolfsson, Kristina Adorjan, Ingrid Agartz, Sofie R. Aminoff, Heike Anderson-Schmidt, Ole A. Andreassen, Raffaella Ardau, Jean-Michel Aubry, Ceylan Balaban, Nicholas Bass, Bernhard T. Baune, Frank Bellivier, Antoni Benabarre, Susanne Bengesser, Wade H Berrettini, Marco P. Boks, Evelyn J. Bromet, Katharina Brosch, Monika Budde, William Byerley, Pablo Cervantes, Catina Chillotti, Sven Cichon, Scott R. Clark, Ashley L. Comes, Aiden Corvin, William Coryell, Nick Craddock, David W. Craig, Paul E. Croarkin, Cristiana Cruceanu, Piotr M. Czerski, Nina Dalkner, Udo Dannlowski, Franziska Degenhardt, Maria Del Zompo, J. Raymond DePaulo, Srdjan Djurovic, Howard J. Edenberg, Mariam Al Eissa, Torbjørn Elvsåshagen, Bruno Etain, Ayman H. Fanous, Frederike Fellendorf, Alessia Fiorentino, Andreas J. Forstner, Mark A. Frye, Janice M. Fullerton, Katrin Gade, Julie Garnham, Elliot Gershon, Michael Gill, Fernando S. Goes, Katherine Gordon-Smith, Paul Grof, Jose Guzman-Parra, Tim Hahn, Roland Hasler, Maria Heilbronner, Urs Heilbronner, Stephane Jamain, Esther Jimenez, Ian Jones, Lisa Jones, Lina Jonsson, Rene S. Kahn, John R. Kelsoe, James L. Kennedy, Tilo Kircher, George Kirov, Sarah Kittel-Schneider, Farah Klöhn-Saghatolislam, James A. Knowles, Thorsten M. Kranz, Trine Vik Lagerberg, Mikael Landen, William B. Lawson, Marion Leboyer, Qingqin S. Li, Mario Maj, Dolores Malaspina, Mirko Manchia, Fermin Mayoral, Susan L. McElroy, Melvin G. McInnis, Andrew M. McIntosh, Helena Medeiros, Ingrid Melle, Vihra Milanova, Philip B. Mitchell, Palmiero Monteleone, Alessio Maria Monteleone, Markus M. Nöthen, Tomas Novak, John I. Nurnberger, Niamh O'Brien, Kevin S. O'Connell, Claire O'Donovan, Michael C. O'Donovan, Nils Opel, Abigail Ortiz, Michael J. Owen, Erik Pålsson, Carlos Pato, Michele T. Pato, Joanna Pawlak, Julia-Katharina Pfarr, Claudia Pisanu, James B. Potash, Mark H Rapaport, Daniela Reich-Erkelenz, Andreas Reif, Eva Reininghaus, Jonathan Repple, Hélène Richard-Lepouriel, Marcella Rietschel, Kai Ringwald, Gloria Roberts, Guy Rouleau, Sabrina Schaupp, William A Scheftner, Simon Schmitt, Peter R. Schofield, K. Oliver Schubert, Eva C. Schulte, Barbara Schweizer, Fanny Senner, Giovanni Severino, Sally Sharp, Claire Slaney, Olav B. Smeland, Janet L. Sobell, Alessio Squassina, Pavla Stopkova, John Strauss, Alfonso Tortorella, Gustavo Turecki, Joanna Twarowska-Hauser, Marin Veldic, Eduard Vieta, John B. Vincent, Wei Xu, Clement C. Zai, Peter P. Zandi, Psychiatric Genomics Consortium (PGC) Bipolar Disorder Working Group, International Consortium on Lithium Genetics (ConLiGen), Colombia-US Cross Disorder Collaboration in Psychiatric Genetics, Arianna Di Florio, Jordan W. Smoller, Joanna M. Biernacka, Francis J. McMahon, Martin Alda, Bertram Müller-Myhsok, Nikolaos Koutsouleris, Peter Falkai, Nelson B. Freimer, Till F.M. Andlauer, Thomas G. Schulze, Roel A. Ophoff
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- Journal:
- The British Journal of Psychiatry / Volume 219 / Issue 6 / December 2021
- Published online by Cambridge University Press:
- 25 August 2021, pp. 659-669
- Print publication:
- December 2021
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Background
Studying phenotypic and genetic characteristics of age at onset (AAO) and polarity at onset (PAO) in bipolar disorder can provide new insights into disease pathology and facilitate the development of screening tools.
AimsTo examine the genetic architecture of AAO and PAO and their association with bipolar disorder disease characteristics.
MethodGenome-wide association studies (GWASs) and polygenic score (PGS) analyses of AAO (n = 12 977) and PAO (n = 6773) were conducted in patients with bipolar disorder from 34 cohorts and a replication sample (n = 2237). The association of onset with disease characteristics was investigated in two of these cohorts.
ResultsEarlier AAO was associated with a higher probability of psychotic symptoms, suicidality, lower educational attainment, not living together and fewer episodes. Depressive onset correlated with suicidality and manic onset correlated with delusions and manic episodes. Systematic differences in AAO between cohorts and continents of origin were observed. This was also reflected in single-nucleotide variant-based heritability estimates, with higher heritabilities for stricter onset definitions. Increased PGS for autism spectrum disorder (β = −0.34 years, s.e. = 0.08), major depression (β = −0.34 years, s.e. = 0.08), schizophrenia (β = −0.39 years, s.e. = 0.08), and educational attainment (β = −0.31 years, s.e. = 0.08) were associated with an earlier AAO. The AAO GWAS identified one significant locus, but this finding did not replicate. Neither GWAS nor PGS analyses yielded significant associations with PAO.
ConclusionsAAO and PAO are associated with indicators of bipolar disorder severity. Individuals with an earlier onset show an increased polygenic liability for a broad spectrum of psychiatric traits. Systematic differences in AAO across cohorts, continents and phenotype definitions introduce significant heterogeneity, affecting analyses.
Community-Driven Methods for Open and Reproducible Software Tools for Analyzing Datasets from Atom Probe Microscopy
- Markus Kühbach, Andrew J. London, Jing Wang, Daniel K. Schreiber, Francisca Mendez Martin, Iman Ghamarian, Huma Bilal, Anna V. Ceguerra
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- Journal:
- Microscopy and Microanalysis / Volume 28 / Issue 4 / August 2022
- Published online by Cambridge University Press:
- 27 July 2021, pp. 1038-1053
- Print publication:
- August 2022
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Atom probe tomography, and related methods, probe the composition and the three-dimensional architecture of materials. The software tools which microscopists use, and how these tools are connected into workflows, make a substantial contribution to the accuracy and precision of such material characterization experiments. Typically, we adapt methods from other communities like mathematics, data science, computational geometry, artificial intelligence, or scientific computing. We also realize that improving on research data management is a challenge when it comes to align with the FAIR data stewardship principles. Faced with this global challenge, we are convinced it is useful to join forces. Here, we report the results and challenges with an inter-laboratory call for developing test cases for several types of atom probe microscopy software tools. The results support why defining detailed recipes of software workflows and sharing these recipes is necessary and rewarding: Open source tools and (meta)data exchange can help to make our day-to-day data processing tasks become more efficient, the training of new users and knowledge transfer become easier, and assist us with automated quantification of uncertainties to gain access to substantiated results.
Personality Polygenes, Positive Affect, and Life Satisfaction
- Alexander Weiss, Bart M. L. Baselmans, Edith Hofer, Jingyun Yang, Aysu Okbay, Penelope A. Lind, Mike B. Miller, Ilja M. Nolte, Wei Zhao, Saskia P. Hagenaars, Jouke-Jan Hottenga, Lindsay K. Matteson, Harold Snieder, Jessica D. Faul, Catharina A. Hartman, Patricia A. Boyle, Henning Tiemeier, Miriam A. Mosing, Alison Pattie, Gail Davies, David C. Liewald, Reinhold Schmidt, Philip L. De Jager, Andrew C. Heath, Markus Jokela, John M. Starr, Albertine J. Oldehinkel, Magnus Johannesson, David Cesarini, Albert Hofman, Sarah E. Harris, Jennifer A. Smith, Liisa Keltikangas-Järvinen, Laura Pulkki-Råback, Helena Schmidt, Jacqui Smith, William G. Iacono, Matt McGue, David A. Bennett, Nancy L. Pedersen, Patrik K. E. Magnusson, Ian J. Deary, Nicholas G. Martin, Dorret I. Boomsma, Meike Bartels, Michelle Luciano
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- Journal:
- Twin Research and Human Genetics / Volume 19 / Issue 5 / October 2016
- Published online by Cambridge University Press:
- 22 August 2016, pp. 407-417
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Approximately half of the variation in wellbeing measures overlaps with variation in personality traits. Studies of non-human primate pedigrees and human twins suggest that this is due to common genetic influences. We tested whether personality polygenic scores for the NEO Five-Factor Inventory (NEO-FFI) domains and for item response theory (IRT) derived extraversion and neuroticism scores predict variance in wellbeing measures. Polygenic scores were based on published genome-wide association (GWA) results in over 17,000 individuals for the NEO-FFI and in over 63,000 for the IRT extraversion and neuroticism traits. The NEO-FFI polygenic scores were used to predict life satisfaction in 7 cohorts, positive affect in 12 cohorts, and general wellbeing in 1 cohort (maximal N = 46,508). Meta-analysis of these results showed no significant association between NEO-FFI personality polygenic scores and the wellbeing measures. IRT extraversion and neuroticism polygenic scores were used to predict life satisfaction and positive affect in almost 37,000 individuals from UK Biobank. Significant positive associations (effect sizes <0.05%) were observed between the extraversion polygenic score and wellbeing measures, and a negative association was observed between the polygenic neuroticism score and life satisfaction. Furthermore, using GWA data, genetic correlations of -0.49 and -0.55 were estimated between neuroticism with life satisfaction and positive affect, respectively. The moderate genetic correlation between neuroticism and wellbeing is in line with twin research showing that genetic influences on wellbeing are also shared with other independent personality domains.
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- By Rosanna Abbate, Charlotte L. Allan, Johannes Attems, Richard I. Aviv, Hansjoerg Baezner, Oscar R. Benavente, Maria Bjerke, Sandra E. Black, Christian Blahak, Mark I. Boulos, Margherita Cavalieri, Hugues Chabriat, Christopher Chen, Martin Dichgans, Maria Teresa Dotti, Klaus P. Ebmeier, Elisabet Englund, Christian Enzinger, Margaret Esiri, Franz Fazekas, Antonio Federico, José M. Ferro, Thalia Field, Wiesje M. van der Flier, Philip B. Gorelick, Steven Greenberg, Atticus H. Hainsworth, Brian T. Hawkins, Michael G. Hennerici, Domenico Inzitari, Hatsue Ishibashi-Ueda, Yoshikane Izawa, Kurt A. Jellinger, Anne Joutel, Eric Jouvent, Raj Kalaria, Edward G. Lakatta, Jennifer Linn, Marisa Loitfelder, Sofia Madureira, Hugh S. Markus, Ranjith K. Menon, Vincent Mok, Makoto Nakajima, David Nyenhuis, Jun Ogata, Christian Opherk, Leonardo Pantoni, Francesca Pescini, Anna Poggesi, Sharon Reutens, Stefan Ropele, Perminder S. Sachdev, Reinhold Schmidt, Angelo Scuteri, Glenn T. Stebbins, Richard H. Swartz, Ana Verdelho, Anand Viswanathan, Anders Wallin, Joanna M. Wardlaw, Hiromichi Yamanishi, Gregory J. del Zoppo
- Edited by Leonardo Pantoni, Philip B. Gorelick, College of Human Medicine, Michigan State University
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- Book:
- Cerebral Small Vessel Disease
- Published online:
- 05 June 2014
- Print publication:
- 01 May 2014, pp ix-xii
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- By J. William Allwood, Eleni T. Bairaktari, Jean-Pierre Bellocq, Malika A. Benahmed, Hanne Christine Bertram, Zaver M. Bhujwalla, Ulrich Braumann, Juan Casado-Vela, Marta Cascante, Arancha Cebrián, Albert Chen, Man Ho Choi, Bong Chul Chung, Yuen-Li Chung, Morten Rahr Clausen, Patrick J. Cozzone, Ralph J. DeBerardinis, Julien Detour, Santiago Díaz-Moralli, Warwick B. Dunn, Karim Elbayed, Udo Engelke, Teresa W.-M. Fan, Ana M. Gil, Kristine Glunde, Markus Godejohann, Teresa Gómez del Pulgar, Royston Goodacre, Angelina Goudswaard, Gonçalo Graça, Richard W. Gross, Herbert H. Hill, Ralph E. Hurd, Alessio Imperiale, Kimberly A. Kaplan, Neil L. Kelleher, Michael A. Kiebish, Ann M. Knolhoff, Christina E. Kostara, Juan Carlos Lacal, Andrew N. Lane, Martin O. Leach, Norbert W. Lutz, Elizabeth Maher, Craig R. Malloy, Isaac Marin-Valencia, Laura Menchén, Bruce Mickey, Fanny Mochel, Éva Morava, François-Marie Moussallieh, Izzie J. Namer, Peter Nemes, Ioanna Ntai, Geoffrey S. Payne, Marie-France Penet, Martial Piotto, Stanislav S. Rubakhin, Elsa Sánchez-López, A. Dean Sherry, Bindesh Shrestha, Jonathan V. Sweedler, Akos Vertes, Mark R. Viant, Ralf J. M. Weber, Ron Wehrens, Ron A. Wevers, Catherine L. Winder, David S. Wishart, Kui Yang, Yi-Fen Yen
- Edited by Norbert W. Lutz, Jonathan V. Sweedler, University of Illinois, Urbana-Champaign, Ron A. Wevers
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- Book:
- Methodologies for Metabolomics
- Published online:
- 05 January 2013
- Print publication:
- 21 January 2013, pp viii-xii
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A Genome-Wide Association Study of Monozygotic Twin-Pairs Suggests a Locus Related to Variability of Serum High-Density Lipoprotein Cholesterol
- Ida Surakka, John B. Whitfield, Markus Perola, Peter M. Visscher, Grant W. Montgomery, Mario Falchi, Gonneke Willemsen, Eco J. C. de Geus, Patrik K. E. Magnusson, Kaare Christensen, Thorkild I. A. Sørensen, Kirsi H. Pietiläinen, Taina Rantanen, Kaisa Silander, Elisabeth Widén, Juha Muilu, Iffat Rahman, Ulrika Liljedahl, Ann-Christine Syvänen, Aarno Palotie, Jaakko Kaprio, Kirsten O. Kyvik, Nancy L. Pedersen, Dorret I. Boomsma, Tim Spector, Nicholas G. Martin, Samuli Ripatti, Leena Peltonen
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- Journal:
- Twin Research and Human Genetics / Volume 15 / Issue 6 / December 2012
- Published online by Cambridge University Press:
- 03 October 2012, pp. 691-699
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Genome-wide association analysis on monozygotic twin-pairs offers a route to discovery of gene–environment interactions through testing for variability loci associated with sensitivity to individual environment/lifestyle. We present a genome-wide scan of loci associated with intra-pair differences in serum lipid and apolipoprotein levels. We report data for 1,720 monozygotic female twin-pairs from GenomEUtwin project with 2.5 million SNPs, imputed or genotyped, and measured serum lipid fractions for both twins. We found one locus associated with intra-pair differences in high-density lipoprotein cholesterol, rs2483058 in an intron of SRGAP2, where twins carrying the C allele are more sensitive to environmental factors (P = 3.98 × 10−8). We followed up the association in further genotyped monozygotic twins (N = 1,261), which showed a moderate association for the variant (P = 0.200, same direction of an effect). In addition, we report a new association on the level of apolipoprotein A-II (P = 4.03 × 10−8).
Contributors
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- By Waiel Almoustadi, Brian J. Anderson, David B. Auyong, Michael Avidan, Michael J. Avram, Roland J. Bainton, Jeffrey R. Balser, Juliana Barr, W. Scott Beattie, Manfred Blobner, T. Andrew Bowdle, Walter A. Boyle, Eugene B. Campbell, Laura F. Cavallone, Mario Cibelli, C. Michael Crowder, Ola Dale, M. Frances Davies, Mark Dershwitz, George Despotis, Clifford S. Deutschman, Brian S. Donahue, Marcel E. Durieux, Thomas J. Ebert, Talmage D. Egan, Helge Eilers, E. Wesley Ely, Charles W. Emala, Alex S. Evers, Heidrun Fink, Pierre Foëx, Stuart A. Forman, Helen F. Galley, Josephine M. Garcia-Ferrer, Robert W. Gereau, Tony Gin, David Glick, B. Joseph Guglielmo, Dhanesh K. Gupta, Howard B. Gutstein, Robert G. Hahn, Greg B. Hammer, Brian P. Head, Helen Higham, Laureen Hill, Kirk Hogan, Charles W. Hogue, Christopher G. Hughes, Eric Jacobsohn, Roger A. Johns, Dean R. Jones, Max Kelz, Evan D. Kharasch, Ellen W. King, W. Andrew Kofke, Tom C. Krejcie, Richard M. Langford, H. T. Lee, Isobel Lever, Jerrold H. Levy, J. Lance Lichtor, Larry Lindenbaum, Hung Pin Liu, Geoff Lockwood, Alex Macario, Conan MacDougall, M. B. MacIver, Aman Mahajan, Nándor Marczin, J. A. Jeevendra Martyn, George A. Mashour, Mervyn Maze, Thomas McDowell, Stuart McGrane, Berend Mets, Patrick Meybohm, Charles F. Minto, Jonathan Moss, Mohamed Naguib, Istvan Nagy, Nick Oliver, Paul S. Pagel, Pratik P. Pandharipande, Piyush Patel, Andrew J. Patterson, Robert A. Pearce, Ronald G. Pearl, Misha Perouansky, Kristof Racz, Chinniampalayam Rajamohan, Nilesh Randive, Imre Redai, Stephen Robinson, Richard W. Rosenquist, Carl E. Rosow, Uwe Rudolph, Francis V. Salinas, Robert D. Sanders, Sunita Sastry, Michael Schäfer, Jens Scholz, Thomas W. Schnider, Mark A. Schumacher, John W. Sear, Frédérique S. Servin, Jeffrey H. Silverstein, Tom De Smet, Martin Smith, Joe Henry Steinbach, Markus Steinfath, David F. Stowe, Gary R. Strichartz, Michel M. R. F. Struys, Isao Tsuneyoshi, Robert A. Veselis, Arthur Wallace, Robert P. Walt, David C. Warltier, Nigel R. Webster, Jeanine Wiener-Kronish, Troy Wildes, Paul Wischmeyer, Ling-Gang Wu, Stephen Yang
- Edited by Alex S. Evers, Washington University School of Medicine, St Louis, Mervyn Maze, University of California, San Francisco, Evan D. Kharasch, Washington University School of Medicine, St Louis
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- Book:
- Anesthetic Pharmacology
- Published online:
- 11 April 2011
- Print publication:
- 10 March 2011, pp viii-xiv
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Contributors
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- By Robert S. Agnew, Lara M. Belliston, Daniel M. Blonigen, Michel Boivin, Jeanne Brooks‐Gunn, Andrew Canastar, Noel A. Card, Emil F. Coccaro, Nicki R. Crick, Linda L. Dahlberg, Garth Davies, Scott H. Decker, Kenneth A. Dodge, Dorothy L. Espelage, Jeffrey Fagan, Albert D. Farrell, David P. Farrington, Daniel J. Flannery, Mark S. Fleisher, Vangie A. Foshee, Holly Foster, Richard J. Gelles, Denise C. Gottfredson, Gary D. Gottfredson, Michael R. Gottfredson, Richard E. Heyman, James C. (Buddy) Howell, Megan Q. Howell, Li Huang, L. Rowell Huesmann, Cynthia Irvin, Gary F. Jensen, Yoshito Kawabata, Lucyna Kirwil, Jeff M. Kretschmar, Robert F. Krueger, Markus J. P. Kruesi, Benjamin B. Lahey, Royce Lee, Scott O. Lilienfeld, Todd D. Little, Anne Martin, Rebecca A. Matthew, Stephen C. Maxson, Jacquelyn Mize, Terrie E. Moffitt, Daniel S. Nagin, Jamie M. Ostrov, Christopher J. Patrick, Bowen Paulle, Gregory S. Pettit, Adrian Raine, Soo Hyun Rhee, Angela Scarpa, Jean R. Séguin, Michelle R. Sherrill, Mark I. Singer, Amy M. Smith Slep, Kevin J. Strom, Patrick Sylvers, Patrick H. Tolan, Elizabeth Trejos‐Castillo, Richard E. Tremblay, Manfred van Dulmen, Johan van Wilsem, Alexander T. Vazsonyi, Edelyn Verona, Frank Vitaro, Monique Vulin‐Reynolds, Irwin D. Waldman, Mark Warr, Stanley Wasserman, Deanna L. Wilkinson
- Edited by Daniel J. Flannery, Kent State University, Ohio, Alexander T. Vazsonyi, Auburn University, Alabama, Irwin D. Waldman, Emory University, Atlanta
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- Book:
- The Cambridge Handbook of Violent Behavior and Aggression
- Published online:
- 05 June 2012
- Print publication:
- 03 September 2007, pp xi-xviii
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Functional MRI correlates of the recall of unresolved life events in borderline personality disorder
- THOMAS BEBLO, MARTIN DRIESSEN, MARKUS MERTENS, KATJA WINGENFELD, MARTINA PIEFKE, NINA RULLKOETTER, ANAMARIA SILVA-SAAVEDRA, CHRISTOPH MENSEBACH, LUISE REDDEMANN, HARALD RAU, HANS J. MARKOWITSCH, HELLA WULFF, WOLFGANG LANGE, CRISTINA BEREA, ISABELLA OLLECH, FRIEDRICH G. WOERMANN
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- Journal:
- Psychological Medicine / Volume 36 / Issue 6 / June 2006
- Published online by Cambridge University Press:
- 30 March 2006, pp. 845-856
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Background. Patients with borderline personality disorder (BPD) frequently report unresolved life events but it is still poorly understood, how these experiences are represented in the brain. Using functional magnetic resonance imaging (fMRI), the present study aimed at investigating the neural correlates of the recall of unresolved life events in patients with BPD and healthy controls.
Method. Twenty female BPD patients and 21 healthy control subjects underwent fMRI. During measurement subjects recalled unresolved and resolved negative life events. Individual cue words were used to stimulate autobiographical memory. After scanning, subjects rated their emotional states during the recall of both types of memories.
Results. When contrasting unresolved and resolved life events, patients showed significant bilateral activation of frontotemporal areas including the insula, amygdala, and the anterior cingulate cortex, the left posterior cingulate cortex, right occipital cortex, the bilateral cerebellum and the midbrain. In healthy subjects, no differential brain activation was related to these conditions. The 2×2 factorial analysis (ΔBPD−Δcontrols) revealed similar results with bilateral activation of the frontal cortex including parts of the insula and of the orbitofrontal cortex, temporal activation including the amygdala, activation of the right occipital cortex, and parts of the cerebellum. Patients but not controls reported higher levels of anxiety and helplessness during the unresolved versus resolved memory condition.
Conclusions. The activation of both, the amygdala and prefrontal areas, might reflect an increased effortful but insufficient attempt to control intensive emotions during the recall of unresolved life events in patients with BPD.