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1. Patterns of Mental Disorders in a Large Child Psychiatric Sample (N = 65,363): A DREAMS Study

Author

van der Mheen, Malindi, Zijlmans, Josjan, van der Doelen, Daniël M., Klip, Helen, van der Lans, Rikkert M., Ruisch, I. Hyun, de Vries, Ymkje Anna, Tieskens, Jacintha M., Wildschut, Marleen, Buitelaar, Jan K., Hoekstra, Pieter J., Lindauer, Ramón J.L., Popma, Arne, Vermeiren, Robert, Broek, Emma M., Dekkers, Tycho J., Dietrich, Andrea, Hein, Irma M., Luman, Marjolein, Nauta, Maaike H., Jansen, Lucres M.C., Nijland, Lian, Pieters, Sara, Staal, Wouter, and Polderman, Tinca J.C.

Published
2024
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5. Contributors

Author

Almqvist, Catarina, primary, Ando, Juko, additional, Bartels, Meike, additional, Bayartai, Munkh-Erdene, additional, Beam, Christopher R., additional, Beltz, Adriene M., additional, Berenbaum, Sheri A., additional, Boomsma, Dorret I., additional, Brikell, Isabell, additional, Bui, Minh, additional, Calais-Ferreira, Lucas, additional, Christensen, Kaare, additional, Corley, Robin P., additional, Cortessis, Victoria K., additional, Cozen, Wendy, additional, Craig, Jeffrey M., additional, DiLalla, Lisabeth Fisher, additional, DiLalla, David L., additional, Dolan, Conor V., additional, Dowty, James G., additional, Elman, Jeremy A., additional, Esser, Vivienne F.C., additional, Ferreira, Paulo H., additional, Finkel, Deborah, additional, Giardina, Irene, additional, Hagenbeek, Fiona A., additional, Haltrich, Irén, additional, Heikkinen, Aino, additional, Hopper, John L., additional, Hottenga, Jouke-Jan, additional, Hur, Yoon-Mi, additional, Jamnik, Matthew R., additional, Jayaweera, Kaushalya, additional, Kaprio, Jaakko, additional, Kim, Alice J., additional, Lam, Esther, additional, Larsson, Henrik, additional, Lee, Soo Ji, additional, Lengyel, Anna, additional, Li, Shuai, additional, Lichtenstein, Paul, additional, Littvay, Levente, additional, Loehlin, John C., additional, Loke, Yuk Jing, additional, Lundgren, Sara, additional, Mack, Thomas M., additional, Malta, Sue, additional, Marshall, Riley L., additional, Martin, Nicholas G., additional, McGue, Matt, additional, Medland, Sarah E., additional, Mitchell, Brittany L., additional, Mitrea, Elena Cristina, additional, Mohandas, Namitha, additional, Morosoli, José J., additional, Métneki, Julia, additional, Nguyen, Tuong L., additional, Niculae, Francisca J., additional, Odintsova, Veronika, additional, Ollikainen, Miina, additional, Ordoñana, Juan R., additional, Pali, Emily, additional, Panizzon, Matthew S., additional, Park, Hang A., additional, Pedersen, Nancy L., additional, Pham, Holly T., additional, Polderman, Tinca J.C., additional, Pool, René, additional, Pári, András, additional, Rankin, Monica, additional, Renzo, Gian Carlo Di, additional, Reynolds, Chandra A., additional, Salehi, Maryam, additional, Segal, Nancy L., additional, Silventoinen, Karri, additional, Slagboom, P. Eline, additional, Steinman, Gary, additional, Stephenson, Garth, additional, Sumathipala, Athula, additional, Sung, Joohon, additional, Tafforin, Carole, additional, Tarnoki, Adam D., additional, Tarnoki, David L., additional, Tosto, Valentina, additional, Tsibizova, Valentina, additional, Varjassy, Peter, additional, Vuoksimaa, Eero, additional, Willemsen, Gonneke, additional, Wong, Yen Ting, additional, de Geus, Eco, additional, de Vries, Lianne P., additional, van Dongen, Jenny, additional, and van de Weijer, Margot P., additional

Published
2022
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8. Changes in child and adolescent mental health across the COVID-19 pandemic (2018-2023): Insights from general population and clinical samples in the Netherlands

Author

van Oers, Hedy A., primary, Alrouh, Hekmat, additional, Tieskens, Jacintha M., additional, Luijten, Michiel A.J., additional, de Groot, Rowdy, additional, Broek, Emma, additional, van der Doelen, Daniel, additional, Klip, Helen, additional, de Meyer, Ronald, additional, van der Mheen, Malindi, additional, Ruisch, Hyun, additional, van den Berg, Germie, additional, Bruining, Hilgo, additional, Buitelaar, Jan, additional, van der Rijken, Rachel, additional, Hoekstra, Pieter J., additional, Kleinjan, Marloes, additional, Lindauer, Ramon, additional, Oostrom, Kim J., additional, Staal, Wouter, additional, Vermeiren, Robert, additional, Cornet, Ronald, additional, Haverman, Lotte, additional, Popma, Arne, additional, Bartels, Meike, additional, Polderman, Tinca J.C., additional, and Zijlmans, Josjan, additional

Published
2023
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10. Cortical morphology as a shared neurobiological substrate of attention-deficit/hyperactivity symptoms and executive functioning: a population-based pediatric neuroimaging study

Author

Mous, Sabine E., White, Tonya, Muetzel, Ryan L., Marroun, Hanan El, Rijlaarsdam, Jolien, Polderman, Tinca J.C., Jaddoe, Vincent W., Verhulst, Frank C., Posthuma, Danielle, and Tiemeier, Henning

Subjects
Attention deficit hyperactivity disorder -- Physiological aspects, Health, Psychology and mental health
Abstract

Background: Attention-deficit/hyperactivity symptoms have repeatedly been associated with poor cognitive functioning. Genetic studies have demonstrated a shared etiology of attention-deficit/hyperactivity disorder (ADHD) and cognitive ability, suggesting a common underlying neurobiology of ADHD and cognition. Further, neuroimaging studies suggest that altered cortical development is related to ADHD. In a large population-based sample we investigated whether cortical morphology, as a potential neurobiological substrate, underlies the association between attention-deficit/hyperactivity symptoms and cognitive problems. Methods: The sample consisted of school-aged children with data on attention-deficit/hyperactivity symptoms, cognitive functioning and structural imaging. First, we investigated the association between attention-deficit/hyperactivity symptoms and different domains of cognition. Next, we identified cortical correlates of attention-deficit/hyperactivity symptoms and related cognitive domains. Finally, we studied the role of cortical thickness and gyrification in the behaviour-cognition associations. Results: We included 776 children in our analyses. We found that attention-deficit/hyperactivity symptoms were associated specifically with problems in attention and executive functioning (EF; b = -0.041, 95% confidence interval [CI] -0.07 to -0.01, p = 0.004). Cortical thickness and gyrification were associated with both attention-deficit/hyperactivity symptoms and EF in brain regions that have been previously implicated in ADHD. This partly explained the association between attention-deficit/hyperactivity symptoms and EF ([b.sub.indirect] = -0.008, bias-corrected 95% CI -0.018 to -0.001). Limitations: The nature of our study did not allow us to draw inferences regarding temporal associations; longitudinal studies are needed for clarification. Conclusion: In a large, population-based sample of children, we identified a shared cortical morphology underlying attention-deficit/hyperactivity symptoms and EF., Introduction Neurodevelopmental disorders have repeatedly been associated with poor cognitive functioning and lower levels of general intelligence in both clinical and epidemiological population-based samples. (1,2) Studies of attention-deficit/ hyperactivity disorder [...]

Published
2017
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16. Incidental Findings on Brain Imaging in the General Pediatric Population

Author

Jansen, Philip R., Dremmen, Marjolein, van den Berg, Aaike, Dekkers, Ilona A., Blanken, Laura M.E., Muetzel, Ryan L., Bolhuis, Koen, Mulder, Rosa M., Kocevska, Desana, Jansen, Toyah A., de Wit, Marie-Claire Y., Neuteboom, Rinze F., Polderman, Tinca J.C., Posthuma, Danielle, Jaddoe, Vincent W.V., Verhulst, Frank C., Tiemeier, Henning, van der Lugt, Aad, and White, Tonya J.H.

Published
2017
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21. The predictive capacity of psychiatric and psychological polygenic risk scores for distinguishing cases in a child and adolescent psychiatric sample from controls

Author

Jansen, Arija G., Jansen, Philip R., Savage, Jeanne E., Kraft, Julia, Skarabis, Nora, Polderman, Tinca J.C., Dieleman, Gwen C., Jansen, Arija G., Jansen, Philip R., Savage, Jeanne E., Kraft, Julia, Skarabis, Nora, Polderman, Tinca J.C., and Dieleman, Gwen C.

Abstract

Background: Psychiatric traits are heritable, highly comorbid and genetically correlated, suggesting that genetic effects that are shared across disorders are at play. The aim of the present study is to quantify the predictive capacity of common genetic variation of a variety of traits, as captured by their PRS, to predict case-control status in a child and adolescent psychiatric sample including controls to reveal which traits contribute to the shared genetic risk across disorders. Method: Polygenic risk scores (PRS) of 14 traits were used as predictor phenotypes to predict case-control status in a clinical sample. Clinical cases (N = 1,402), age 1–21, diagnostic categories: Autism spectrum disorders (N = 492), Attention-deficit/ hyperactivity disorders (N = 471), Anxiety (N = 293), disruptive behaviors (N = 101), eating disorders (N = 97), OCD (N = 43), Tic disorder (N = 50), Disorder of infancy, childhood or adolescence NOS (N = 65), depression (N = 64), motor, learning and communication disorders (N = 59), Anorexia Nervosa (N = 48), somatoform disorders (N = 47), Trauma/stress (N = 39) and controls (N = 1,448, age 17–84) of European ancestry. First, these 14 PRS were tested in univariate regression analyses. The traits that significantly predicted case-control status were included in a multivariable regression model to investigate the gain in explained variance when leveraging the genetic effects of multiple traits simultaneously. Results: In the univariate analyses, we observed significant associations between clinical status and the PRS of educational attainment (EA), smoking initiation (SI), intelligence, neuroticism, alcohol dependence, ADHD, major depression and anti-social behavior. EA (p-value: 3.53E-20, explained variance: 3.99%, OR: 0.66), and SI (p-value: 4.77E-10, explained variance: 1.91%, OR: 1.33) were the most predictive traits. In the multivariable analysis with these eight significant traits, EA and SI, remained significant predictors. The ex

Published
2021

24. Author Correction:A global overview of pleiotropy and genetic architecture in complex traits (Nature Genetics, (2019), 51, 9, (1339-1348), 10.1038/s41588-019-0481-0)

Author

Watanabe, Kyoko, Stringer, Sven, Frei, Oleksandr, Mirkov, Maša Umićević, de Leeuw, Christiaan, Polderman, Tinca J.C., van der Sluis, Sophie, Andreassen, Ole A., Neale, Benjamin M., and Posthuma, Danielle

Subjects
ComputingMethodologies_DOCUMENTANDTEXTPROCESSING
Abstract

In the version of this article originally published, the captions of Fig. 1e,f were incorrectly swapped. The error has been corrected in the HTML and PDF versions of the article.

Published
2020
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25. Psychiatric Polygenic Risk Scores as Predictor for Attention Deficit/Hyperactivity Disorder and Autism Spectrum Disorder in a Clinical Child and Adolescent Sample

Author

Jansen, Arija G., Dieleman, Gwen C., Jansen, Philip R., Verhulst, Frank C., Posthuma, Danielle, Polderman, Tinca J.C., Jansen, Arija G., Dieleman, Gwen C., Jansen, Philip R., Verhulst, Frank C., Posthuma, Danielle, and Polderman, Tinca J.C.

Abstract

Neurodevelopmental disorders such as attention deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) are highly heritable and influenced by many single nucleotide polymorphisms (SNPs). SNPs can be used to calculate individual polygenic risk scores (PRS) for a disorder. We aim to explore the association between the PRS for ADHD, ASD and for Schizophrenia (SCZ), and ADHD and ASD diagnoses in a clinical child and adolescent population. Based on the most recent genome wide association studies of ADHD, ASD and SCZ, PRS of each disorder were calculated for individuals of a clinical child and adolescent target sample (N = 688) and for adult controls (N = 943). We tested with logistic regression analyses for an association with (1) a single diagnosis of ADHD (N = 280), (2) a single diagnosis of ASD (N = 295), and (3) combining the two diagnoses, thus subjects with either ASD, ADHD or both (N = 688). Our results showed a significant association of the ADHD PRS with ADHD status (OR 1.6, P = 1.39 × 10−07) and with the combined ADHD/ASD status (OR 1.36, P = 1.211 × 10−05), but not with ASD status (OR 1.14, P = 1). No associations for the ASD and SCZ PRS were observed. In sum, the PRS of ADHD is significantly associated with the combined ADHD/ASD status. Yet, this association is primarily driven by ADHD status, suggesting disorder specific genetic effects of the ADHD PRS.

Published
2020

27. Editorial: The Genetic Overlap Between Cognitive Abilities and a Transdiagnostic Vulnerability for Psychopathology

Author

Polderman, Tinca J.C. and Polderman, Tinca J.C.

Abstract

Cognitive abilities, such as working memory, selective attention, inhibition, alertness, and flexibility, are collectively known as executive functioning (EF), which is essential in daily life routines. For instance, EF is important when planning a series of actions, in novel situations, or during the performance of complex tasks. General intelligence, or g, is a related construct and involves, for instance, the ability to reason, plan, solve problems, think abstractly, and learn from experience. The concept g is usually measured with a psychometric intelligence test. It has been known for more than a decade that EF and, in particular, g are negatively correlated with psychopathology. Yet, the underlying source of this correlation is largely unknown.

Published
2020
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28. Meta-analysis of genome-wide association studies for neuroticism in 449,484 individuals identifies novel genetic loci and pathways

Author

Nagel, Mats, Jansen, Philip R., Stringer, Sven, Watanabe, Kyoko, De Leeuw, Christiaan A., Bryois, Julien, Savage, Jeanne E., Hammerschlag, Anke R., Skene, Nathan G., Muñoz-Manchado, Ana B., Agee, Michelle, Alipanahi, Babak, Auton, Adam, Bell, Robert K., Bryc, Katarzyna, Elson, Sarah L., Fontanillas, Pierre, Furlotte, Nicholas A., Hinds, David A., Hromatka, Bethann S., Huber, Karen E., Kleinman, Aaron, Litterman, Nadia K., McIntyre, Matthew H., Mountain, Joanna L., Noblin, Elizabeth S., Northover, Carrie A.M., Pitts, Steven J., Sathirapongsasuti, J. Fah, Sazonova, Olga V., Shelton, Janie F., Shringarpure, Suyash, Tian, Chao, Tung, Joyce Y., Vacic, Vladimir, Wilson, Catherine H., White, Tonya, Tiemeier, Henning, Linnarsson, Sten, Hjerling-Leffler, Jens, Polderman, Tinca J.C., Sullivan, Patrick F., Van Der Sluis, Sophie, Posthuma, Danielle, Child and Adolescent Psychiatry / Psychology, Complex Trait Genetics, Amsterdam Neuroscience - Complex Trait Genetics, Biological Psychology, Functional Genomics, Human genetics, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, VU University medical center, Amsterdam Neuroscience - Compulsivity, Impulsivity & Attention, Amsterdam Neuroscience - Mood, Anxiety, Psychosis, Stress & Sleep, and Amsterdam Reproduction & Development (AR&D)

Subjects
Adult, Male, 0301 basic medicine, Neurogenesis, Genome-wide association study, Biology, Polymorphism, Single Nucleotide, 03 medical and health sciences, 0302 clinical medicine, SDG 3 - Good Health and Well-being, Risk Factors, Polymorphism (computer science), mental disorders, Genetics, Humans, Genetic Predisposition to Disease, Gene, Aged, Neurons, Neuroticism, Depression, Dopaminergic, Mendelian Randomization Analysis, Middle Aged, Anxiety Disorders, Axons, 030104 developmental biology, Genetic Loci, Meta-analysis, Schizophrenia, Female, 030217 neurology & neurosurgery, Genome-Wide Association Study
Abstract

Neuroticism is an important risk factor for psychiatric traits, including depression 1 , anxiety 2,3 , and schizophrenia 4-6 . At the time of analysis, previous genome-wide association studies 7-12 (GWAS) reported 16 genomic loci associated to neuroticism 10-12 . Here we conducted a large GWAS meta-analysis (n = 449,484) of neuroticism and identified 136 independent genome-wide significant loci (124 new at the time of analysis), which implicate 599 genes. Functional follow-up analyses showed enrichment in several brain regions and involvement of specific cell types, including dopaminergic neuroblasts (P = 3.49 × 10 -8 ), medium spiny neurons (P = 4.23 × 10 -8 ), and serotonergic neurons (P = 1.37 × 10 -7 ). Gene set analyses implicated three specific pathways: neurogenesis (P = 4.43 × 10 -9 ), behavioral response to cocaine processes (P = 1.84 × 10 -7 ), and axon part (P = 5.26 × 10 -8 ). We show that neuroticism's genetic signal partly originates in two genetically distinguishable subclusters 13 ('depressed affect' and 'worry'), suggesting distinct causal mechanisms for subtypes of individuals. Mendelian randomization analysis showed unidirectional and bidirectional effects between neuroticism and multiple psychiatric traits. These results enhance neurobiological understanding of neuroticism and provide specific leads for functional follow-up experiments.

Published
2018
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30. The phenotypic and genotypic relation between working memory speed and capacity

Author

Polderman, Tinca J.C., Stins, John F., Posthuma, Danielle, Gosso, M. Florencia, Verhulst, Frank C., and Boomsma, Dorret I.

Subjects
Intellect -- Genetic aspects, Intelligence levels -- Genetic aspects, Short-term memory -- Analysis, Psychology and mental health
Abstract

The phenotypic and genotypic relationship between working memory speed (WMS) and working memory capacity (WMC) in 12-year-old twins and their siblings is examined. The results have shown that WMS and WMC are heritable traits, the variance in WMS and WMC is explained by both an overlapping set of genes and a separate set of genes and that the overlap of genes involves not only WM processes but is also explained by general IQ (g).

Published
2006

31. Accounting for sequential trial effects in the flanker task: conflict adaptation or associative priming?

Author

Nieuwenhuis, Sander, Stins, John F., Posthuma, Danielle, Polderman, Tinca J.C., Boomsma, Dorret I., and de Geus, Eco J.

Subjects
Priming (Psychology) -- Research, Conflict management -- Research, Psychology and mental health
Abstract

The conflict-control loop theory proposes that the detection of conflict in information processing triggers an increase in cognitive control, resulting in improved performance on the subsequent trial. This theory seems consistent with the robust finding that conflict susceptibility is reduced following correct trials associated with high conflict: the conflict adaptation effect. However, despite providing favorable conditions for eliciting and detecting conflict-triggered performance adjustments, none of the five experiments reported here provide unequivocal evidence of such adjustments. Instead, the results corroborate and extend earlier findings by demonstrating that the conflict adaptation effect, at least in the flanker task, is only present for a specific subset of trial sequences that is characterized by a response repetition. This pattern of results provides strong evidence that the conflict adaptation effect reflects associative stimulus--response priming instead of conflict-driven adaptations in cognitive control.

Published
2006

35. The ongoing adaptive evolution of ASPM and Microcephalin is not explained by increased intelligence

Author

Mekel-Bobrov, Nitzan, Posthuma, Danielle, Gilbert, Sandra L., Lind, Penelope, Gosso, M. Florencia, Luciano, Michelle, Harris, Sarah E., Bates, Timothy C., Polderman, Tinca J.C., Whalley, Lawrence J., Fox, Helen, Starr, John M., Evans, Patrick D., Montgomery, Grant W., Fernandes, Croydon, Heutink, Peter, Martin, Nicholas G., Boomsma, Dorret I., Deary, Ian J., Wright, Margaret J., de Geus, Eco J.C., and Lahn, Bruce T.

Published
2007

36. Association studies of up to 1.2 million individuals yield new insights into the genetic etiology of tobacco and alcohol use

Author

Liu, Mengzhen, Hottenga, Jouke Jan, Jansen, Philip R., Willemsen, Gonneke, Boomsma, Dorret I., Davies, Gareth E., Polderman, Tinca J.C., Posthuma, Danielle, Vrieze, Scott, 23Andme Research Team, HUNT All-In Psychiatry, Liu, Mengzhen, Hottenga, Jouke Jan, Jansen, Philip R., Willemsen, Gonneke, Boomsma, Dorret I., Davies, Gareth E., Polderman, Tinca J.C., Posthuma, Danielle, Vrieze, Scott, 23Andme Research Team, and HUNT All-In Psychiatry

Abstract

Tobacco and alcohol use are leading causes of mortality that influence risk for many complex diseases and disorders 1 . They are heritable 2,3 and etiologically related 4,5 behaviors that have been resistant to gene discovery efforts 6–11 . In sample sizes up to 1.2 million individuals, we discovered 566 genetic variants in 406 loci associated with multiple stages of tobacco use (initiation, cessation, and heaviness) as well as alcohol use, with 150 loci evidencing pleiotropic association. Smoking phenotypes were positively genetically correlated with many health conditions, whereas alcohol use was negatively correlated with these conditions, such that increased genetic risk for alcohol use is associated with lower disease risk. We report evidence for the involvement of many systems in tobacco and alcohol use, including genes involved in nicotinic, dopaminergic, and glutamatergic neurotransmission. The results provide a solid starting point to evaluate the effects of these loci in model organisms and more precise substance use measures.

Published
2019
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37. Genetic Determinants of Cortical Structure (Thickness, Surface Area and Volumes) among Disease Free Adults in the CHARGE Consortium

Author

Hofer, Edith, Roshchupkin, Gennady V., Adams, Hieab H. H., Knol, Maria J., Lin, Honghuang, Li, Shuo, Zare, Habil, Ahmad, Shahzad, Armstrong, Nicola J., Satizabal, Claudia L., Bernard, Manon, Bis, Joshua C., Gillespie, Nathan A., Luciano, Michelle, Mishra, Aniket, Scholz, Markus, Teumer, Alexander, Xia, Rui, Jian, Xueqiu, Mosley, Thomas H., Saba, Yasaman, Pirpamer, Lukas, Seiler, Stephan, Becker, James T., Carmichael, Owen, Rotter, Jerome I., Psaty, Bruce M., Lopez, Oscar L., Amin, Najaf, van der Lee, Sven J., Yang, Qiong, Himali, Jayandra J., Maillard, Pauline, Beiser, Alexa S., DeCarli, Charles, Karama, Sherif, Lewis, Lindsay, Harris, Mat, Bastin, Mark E., Deary, Ian J., Witte, A.Veronica, Beyer, Frauke, Loeffler, Markus, Mather, Karen A., Schofield, Peter R., Thalamuthu, Anbupalam, Kwok, John B., Wright, Margaret J., Ames, David, Trollor, Julian, Jiang, Jiyang, Brodaty, Henry, Wen, Wei, Vernooij, Meike W, Hofman, Albert, Uitterlinden, André G., Niessen, Wiro J., Wittfeld, Katharina, Bülow, Robin, Völker, Uwe, Pausova, Zdenka, Pike, G. Bruce, Maingault, Sophie, Crivello, Fabrice, Tzourio, Christophe, Amouye, Philippe, Mazoyer, Bernard, Neale, Michael C., Franz, Carol E., Lyons, Michael J., Panizzon, Matthew S., Andreassen, Ole A., Dale, Anders M., Logue, Mark, Grasby, Katrina L., Jahanshad, Neda, Painter, Jodie N., Colodro-Conde, Lucía, Bralten, Janita, Hibar, Derrek P., Lind, Penelope A., Pizzagalli, Fabrizio, Stein, Jason L., Thompson, Paul M., Medland, Sarah E., Ching Christopher, R.K., McMahon Mary Agnes, B., Shatokhina, Natalia, Zsembik, Leo C.P., Agartz, Ingrid, Alhusaini, Saud, Almeida, Marcio A.A., Alnæs, Dag, Amlien, Inge K., Andersson, Micael, Ard, Tyler, Ashley-Koch, Allison, Brouwer, Rachel M., Buimer, Elizabeth E.L., Bürger, Christian, Cannon, Dara M., Chakravarty, Mallar, Chen, Qiang, Cheung, Joshua W., Couvy-Duchesne, Baptiste, Dalvie, Shareefa, de Araujo, Tânia K., de Zubicaray, Greig I., de Zwarte, Sonja M.C., Braber, Anouk den, Doan, Nhat Trung, Dohm, Katharina, Ehrlich, Stefan, Engelbrecht, Hannah-Ruth, Erk, Susanne, Fan, Chun Chieh, Fedko, Iryna O., Foley, Sonya F., Ford, Judith M., Fukunaga, Masaki, Garrett, Melanie E., Ge, Tian, Giddaluru, Sudheer, Goldman, Aaron L., Groenewold, Nynke A., Grotegerd, Dominik, Gurholt, Tiril P., Gutman, Boris A., Hansell, Narelle K., Harris, Mathew A., Harrison, Marc B., Haswell, Courtney C., Hauser, Michael, Herms, Stefan, Heslenfeld, Dirk J., Ho, New Fei, Hoehn, David, Hoffmann, Per, Holleran, Laurena, Hoogman, Martine, Hottenga, Jouke-Jan, Ikeda, Masashi, Janowitz, Deborah, Jansen, Iris E., Jia, Tianye, Jockwitz, Christiane, Kanai, Ryota, Kasperaviciute, Dalia, Kaufmann, Tobias, Kelly, Sinead, Kikuchi, Masataka, Klein, Marieke, Knapp, Michael, Knodt, Annchen R., Krämer, Bernd, Lam, Max, Lancaster, Thomas M., Lee, Phil H., Lett, Tristram A., Lewis, Lindsay B., Lopes-Cendes, Iscia, Macciardi, Fabio, Marquand, Andre F., Mathias, Samuel R., Melzer, Tracy R., Milaneschi, Yuri, Mirza-Schreiber, Nazanin, Moreira, Jose C.V., Mühleisen, Thomas W., Müller-Myhsok, Bertram, Najt, Pablo, Nakahara, Soichiro, Nho, Kwangsik, Olde Loohuis, Loes M., Orfanos, Dimitri Papadopoulos, Pearson, John F., Pitcher, Toni L., Pütz, Benno, Ragothaman, Anjanibhargavi, Rashid, Faisal M., Ronny, Redlich, Reinbold, Céline S., Repple, Jonathan, Richard, Geneviève, Riedel, Brandalyn C., Risacher, Shannon L., Rocha, Cristiane S., Mota, Nina Roth, Salminen, Lauren, Saremi, Arvin, Saykin, Andrew J., Schlag, Fenja, Schmaal, Lianne, Secolin, Rodrigo, Shapland, Chin Yang, Shen, Li, Shin, Jean, Shumskaya, Elena, Sønderby, Ida E., Sprooten, Emma, Strike, Lachlan T., Tansey, Katherine E., Thomopoulos, Sophia I., Tordesillas-Gutiérrez, Diana, Turner, Jessica A., Uhlmann, Anne, Vallerga, Costanza Ludovica, der Meer, Dennis van, van Donkelaar, Marjolein M.J., Eijk, Liza van, van Erp, Theo G.M., van Haren, Neeltje E.M., Rooij, Daan van, van Tol, Marie-José, Veldink, Jan H., Verhoef, Ellen, Walton, Esther, Wang, Mingyuan, Wang, Yunpeng, Wardlaw, Joanna M., Westlye, Lars T., Whelan, Christopher D., Witt, Stephanie H., Wolf, Christiane, Wolfers, Thomas, Yasuda, Clarissa L., Zaremba, Dario, Zhang, Zuo, Zhu, Alyssa H., Zwiers, Marcel P., Artiges, Eric, Assareh, Amelia A., Ayesa-Arriola, Rosa, Belger, Aysenil, Brandt, Christine L., Brown, Gregory G., Cichon, Sven, Curran, Joanne E., Davies, Gareth E., Degenhardt, Franziska, Dietsche, Bruno, Djurovic, Srdjan, Doherty, Colin P., Espiritu, Ryan, Garijo, Daniel, Gil, Yolanda, Gowland, Penny A., Green, Robert C., Häusler, Alexander N., Heindel, Walter, Ho, Beng-Choon, Hoffmann, Wolfgang U., Holsboer, Florian, Homuth, Georg, Hosten, Norbert, Jack Jr., Clifford R., Jang, MiHyun, Jansen, Andreas, Kolskår, Knut, Koops, Sanne, Krug, Axel, Lim, Kelvin O., Luykx, Jurjen J., Mathalon, Daniel H., Mattay, Venkata S., Matthews, Sarah, Van Son, Jaqueline Mayoral, McEwen, Sarah C., Melle, Ingrid, Morris, Derek W., Mueller, Bryon A., Nauck, Matthias, Nordvik, Jan E., Nöthen, Markus M., O’Leary, Daniel S., Opel, Nils, Paillère Martinot, Marie-Laure, Preda, Adrian, Quinlan, Erin B., Ratnakar, Varun, Reppermund, Simone, Steen, Vidar M., Torres, Fábio R., Veltman, Dick J., Voyvodic, James T., Whelan, Robert, White, Tonya, Yamamori, Hidenaga, Alvim, Marina K.M., Anderson, Tim J., Arias-Vasquez, Alejandro, Baune, Bernhard T., Blangero, John, Boomsma, Dorret I., Brunner, Han G., Buckner, Randy L., Buitelaar, Jan K., Bustillo, Juan R., Cahn, Wiepke, Calhoun, Vince, Caseras, Xavier, Caspers, Svenja, Cavalleri, Gianpiero L., Cendes, Fernando, Corvin, Aiden, Crespo-Facorro, Benedicto, Dalrymple-Alford, John C., Dannlowski, Udo, de Geus, Eco J.C., Delanty, Norman, Depondt, Chantal, Desrivières, Sylvane, Donohoe, Gary, Espeseth, Thomas, Fernández, Guillén, Fisher, Simon E., Flor, Herta, Forstner, Andreas J., Francks, Clyde, Franke, Barbara, Glahn, David C., Gollub, Randy L., Grabe, Hans J., Gruber, Oliver, Håberg, Asta K., Hariri, Ahmad R., Hartman, Catharina A., Hashimoto, Ryota, Heinz, Andreas, Hillegers, Manon H.J., Hoekstra, Pieter J., Holmes, Avram J., Hong, L. Elliot, Hopkins, William D., Hulshoff Pol, Hilleke E., Jernigan, Terry L., Jönsson, Erik G., Kahn, René S., Kennedy, Martin A., Kircher, Tilo T.J., Kochunov, Peter, Kwok, John B.J., Hellard, Stephanie Le, Martin, Nicholas G., Martinot, Jean - Luc, McDonald, Colm, McMahon, Katie L., Meyer-Lindenberg, Andreas, Morey, Rajendra A., Nyberg, Lars, Oosterlaan, Jaap, Ophoff, Roel A., Paus, Tomáš, Penninx, Brenda W.J.H., Polderman, Tinca J.C., Posthuma, Danielle, Rietschel, Marcella, Roffman, Joshua L., Rowland, Laura M., Sachdev, Perminder S., Sämann, Philipp G., Schumann, Gunter, Sim, Kang, Sisodiya, Sanjay M., Smoller, Jordan W., Sommer, Iris E., Pourcain, Beate St, Stein, Dan J., Toga, Arthur W., Trollor, Julian N., Van der Wee, Nic J.A., Ent, Dennis van’t, Völzke, Henry, Walter, Henrik, Weber, Bernd, Weinberger, Daniel R., Zhou, Juan, Kremen, William S., Villringer, Arno, Duijn, Cornelia M. van, Jörgen Grabe, Hans, Longstreth Jr, William T., Fornage, Myriam, Paus, Tomas, Debette, Stephanie, Ikram, M. Arfan, Schmidt, Helena, Schmidt, Reinhold, Seshadri, Sudha, and ENIGMA consortium

Subjects
0303 health sciences, biology, Genetic heterogeneity, Cognition, Hindbrain, Disease, Heritability, Biobank, 03 medical and health sciences, 0302 clinical medicine, medicine.anatomical_structure, Evolutionary biology, Cortex (anatomy), biology.protein, medicine, Sonic hedgehog, 030217 neurology & neurosurgery, 030304 developmental biology
Abstract

Cortical thickness, surface area and volumes (MRI cortical measures) vary with age and cognitive function, and in neurological and psychiatric diseases. We examined heritability, genetic correlations and genome-wide associations of cortical measures across the whole cortex, and in 34 anatomically predefined regions. Our discovery sample comprised 22,822 individuals from 20 cohorts within the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium and the United Kingdom Biobank. Significant associations were replicated in the Enhancing Neuroimaging Genetics through Meta-analysis (ENIGMA) consortium, and their biological implications explored using bioinformatic annotation and pathway analyses. We identified genetic heterogeneity between cortical measures and brain regions, and 161 genome-wide significant associations pointing to wnt/β-catenin, TGF-β and sonic hedgehog pathways. There was enrichment for genes involved in anthropometric traits, hindbrain development, vascular and neurodegenerative disease and psychiatric conditions. These data are a rich resource for studies of the biological mechanisms behind cortical development and aging.

Published
2018
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38. Planar cell polarity pathway and development of the human visual cortex

Author

Shin, Jean, Ma, Shaojie, Hofer, Edith, Patel, Yash, Roshchupkin, Gennady V., Sousa, André M., Jian, Xueqiu, Gottesman, Rebecca, Mosley, Thomas H., Fornage, Myriam, Saba, Yasaman, Pirpamer, Lukas, Schmidt, Reinhold, Schmidt, Helena, Carrion-Castillo, Amaia, Crivello, Fabrice, Mazoyer, Bernard, Bis, Joshua C., Li, Shuo, Yang, Qiong, Luciano, Michelle, Karama, Sherif, Lewis, Lindsay, Bastin, Mark, Harris, Mathew A., Wardlaw, Joanna M., Deary, Ian E., Scholz, Markus, Loeffler, Markus, Witte, Veronica, Beyer, Frauke, Villringer, Arno, Armstrong, Nicola J, Mather, Karen A., Ames, David, Jiang, Jiyang, Kwok, John B, Schofield, Peter R., Thalamuthu, Anbupalam, Trollor, Julian N., Wright, Margaret J., Brodaty, Henry, Wen, Wei, Sachdev, Perminder S., Terzikhan, Natalie, Evans, Tavia E., Adams, Hieab H.H.H., Ikram, M. Arfan, Frenzel, Stefan, van der Auwera-Palitschka, Sandra, Wittfeld, Katharina, Bülow, Robin, Grabe, Hans Jörgen, Tzourio, Christophe, Mishra, Aniket, Maingault, Sophie, Debette, Stephanie, Gillespie, Nathan A., Franz, Carol E., Kremen, William S., Ding, Linda, Jahanshad, Neda, Sestan, Nenad, Pausova, Zdenka, Seshadri, Sudha, Paus, Tomas, Grasby, Katrina L., Painter, Jodie N., Colodro-Conde, Lucía, Bralten, Janita, Hibar, Derrek P., Lind, Penelope A., Pizzagalli, Fabrizio, Ching, Christopher R.K., McMahon, Mary Agnes B., Shatokhina, Natalia, Zsembik, Leo, Agartz, Ingrid, Alhusaini, Saud, Almeida, Marcio A.A., Alnæs, Dag, Amlien, Inge K., Andersson, Micael, Ard, Tyler, Armstrong, Nicola J., Ashley-Koch, Allison, Bernard, Manon, Brouwer, Rachel M., Buimer, Elizabeth E.L., Bürger, Christian, Cannon, Dara M., Chakravarty, Mallasr, Chen, Qiang, Cheung, Joshua W., Couvy-Duchesne, Baptiste, Dale, Anders M., Dalvie, Shareefa, de Araujo, Tânia K., de Zubicaray, Greig I., de Zwarte, Sonja M.C., Braber, Anouk den, Doan, Nhat Trung, Dohm, Katharina, Ehrlich, Stefan, Engelbrecht, Hannah-Ruth, Erk, Susanne, Fan, Chun Chieh, Fedko, Iryna O., Foley, Sonya F., Ford, Judith M., Fukunaga, Masaki, Garrett, Melanie E., Ge, Tian, Giddaluru, Sudheer, Goldman, Aaron L., Groenewold, Nynke A., Grotegerd, Dominik, Gurholt, Tiril P., Gutman, Boris A., Hansell, Narelle K., Harrison, Marc B., Haswell, Courtney C., Hauser, Michael, Heslenfeld, Dirk J., Hoehn, David, Holleran, Laurena, Hoogman, Martine, Hottenga, Jouke-Jan, Ikeda, Masashi, Janowitz, Deborah, Jansen, Iris E., Jia, Tianye, Jockwitz, Christiane, Kanai, Ryota, Kasperaviciute, Dalia, Kaufmann, Tobias, Kelly, Sinead, Kikuchi, Masataka, Klein, Marieke, Knapp, Michael, Knodt, Annchen R., Krämer, Bernd, Lancaster, Thomas M., Lee, Phil H., Lett, Tristram A., Lewis, Lindsay B., Lopes-Cendes, Iscia, Macciardi, Fabio, Marquand, Andre F., Mathias, Samuel R., Melzer, Tracy R., Milaneschi, Yuri, Mirza-Schreiber, Nazanin, Moreira, Jose C.V., Mühleisen, Thomas W., Müller-Myhsok, Bertram, Najt, Pablo, Nakahara, Soichiro, Nho, Kwangsik, Olde Loohuis, Loes M., Orfanos, Dimitri Papadopoulos, Pearson, John F., Pitcher, Toni L., Pütz, Benno, Ragothaman, Anjanibhargavi, Rashid, Faisal M., Redlich, Ronny, Reinbold, Céline S., Repple, Jonathan, Richard, Geneviève, Riedel, Brandalyn C., Risacher, Shannon L., Rocha, Cristiane S., Mota, Nina Roth, Salminen, Lauren, Saremi, Arvin, Saykin, Andrew J., Schlag, Fenja, Schmaal, Lianne, Secolin, Rodrigo, Shapland, Chin Yang, Shen, Li, Shumskaya, Elena, Sønderby, Ida E., Sprooten, Emma, Strike, Lachlan T., Tansey, Katherine E., Teumer, Alexander, Thomopoulos, Sophia I., Tordesillas-Gutiérrez, Diana, Turner, Jessica A., Uhlmann, Anne, Vallerga, Costanza Ludovica, van der Meer, Dennis, van Donkelaar, Marjolein M.J., van Eijk, Liza, van Erp, Theo G.M., van Haren, Neeltje E.M., van Rooij, Daan, van Tol, Marie-José, Veldink, Jan H., Verhoef, Ellen, Walton, Esther, Wang, Yunpeng, Westlye, Lars T., Whelan, Christopher D., Witt, Stephanie H., Wolf, Christiane, Wolfers, Thomas, Yasuda, Clarissa L., Zaremba, Dario, Zhang, Zuo, Zhu, Alyssa H., Zwiers, Marcel P., Artiges, Eric, Assareh, Amelia A., Ayesa-Arriola, Rosa, Belger, Aysenil, Brandt, Christine L., Brown, Gregory G., Cichon, Sven, Curran, Joanne E., Davies, Gareth E., Degenhardt, Franziska, Dietsche, Bruno, Djurovic, Srdjan, Doherty, Colin P., Espiritu, Ryan, Garijo, Daniel, Gil, Yolanda, Gowland, Penny A., Green, Robert C., Häusler, Alexander N., Heindel, Walter, Ho, Beng-Choon, Hoffmann, Wolfgang U., Holsboer, Florian, Homuth, Georg, Hosten, Norbert, Jack Jr., Clifford R., Jang, MiHyun, Jansen, Andreas, Kolskår, Knut, Koops, Sanne, Krug, Axel, Lim, Kelvin O., Luykx, Jurjen J., Mathalon, Daniel H., Mattay, Venkata S., Matthews, Sarah, Van Son, Jaqueline Mayoral, McEwen, Sarah C., Melle, Ingrid, Morris, Derek W., Mueller, Bryon A., Nauck, Matthias, Nordvik, Jan E., Nöthen, Markus M., O’Leary, Daniel S., Opel, Nils, Martinot, Marie - Laure Paillère, Pike, G. Bruce, Preda, Adrian, Quinlan, Erin B., Ratnakar, Varun, Reppermund, Simone, Steen, Vidar M., Torres, Fábio R., Veltman, Dick J., Voyvodic, James T., Whelan, Robert, White, Tonya, Yamamori, Hidenaga, Alvim, Marina K.M., Anderson, Tim J., Andreassen, Ole A., Arias-Vasquez, Alejandro, Bastin, Mark E., Baune, Bernhard T., Blangero, John, Boomsma, Dorret I., Brunner, Han G., Buckner, Randy L., Buitelaar, Jan K., Bustillo, Juan R., Cahn, Wiepke, Calhoun, Vince, Caseras, Xavier, Caspers, Svenja, Cavalleri, Gianpiero L., Cendes, Fernando, Corvin, Aiden, Crespo-Facorro, Benedicto, Dalrymple-Alford, John C., Dannlowski, Udo, de Geus, Eco J.C., Deary, Ian J., Delanty, Norman, Depondt, Chantal, Desrivières, Sylvane, Donohoe, Gary, Espeseth, Thomas, Fernández, Guillén, Fisher, Simon E., Flor, Herta, Forstner, Andreas J., Francks, Clyde, Franke, Barbara, Glahn, David C., Gollub, Randy L., Grabe, Hans J., Gruber, Oliver, Håberg, Asta K., Hariri, Ahmad R., Hartman, Catharina A., Hashimoto, Ryota, Heinz, Andreas, Hillegers, Manon H.J., Hoekstra, Pieter J., Holmes, Avram J., Hong, L. Elliot, Hopkins, William D., Hulshoff Pol, Hilleke E., Jernigan, Terry L., Jönsson, Erik G., Kahn, René S., Kennedy, Martin A., Kircher, Tilo T.J., Kochunov, Peter, Kwok, John B.J., Le Hellard, Stephanie, Martin, Nicholas G., Martinot, Jean - Luc, McDonald, Colm, McMahon, Katie L., Meyer-Lindenberg, Andreas, Morey, Rajendra A., Nyberg, Lars, Oosterlaan, Jaap, Ophoff, Roel A., Penninx, Brenda W.J.H., Polderman, Tinca J.C., Posthuma, Danielle, Rietschel, Marcella, Roffman, Joshua L., Rowland, Laura M., Sämann, Philipp G., Schumann, Gunter, Sim, Kang, Sisodiya, Sanjay M., Smoller, Jordan W., Sommer, Iris E., St Pourcain, Beate, Stein, Dan J., Toga, Arthur W., Van der Wee, Nic J.A., van’t Ent, Dennis, Völzke, Henry, Walter, Henrik, Weber, Bernd, Weinberger, Daniel R., Zhou, Juan, Stein, Jason L., Thompson, Paul M., Medland, Sarah E., ENIGMA Consortium, and neuroCHARGE Working Group

Subjects
0303 health sciences, DAAM1, Locus (genetics), Single-nucleotide polymorphism, Biology, Lateral geniculate nucleus, Phenotype, Chromosome 17 (human), 03 medical and health sciences, 0302 clinical medicine, Visual cortex, medicine.anatomical_structure, Cerebral cortex, medicine, Neuroscience, 030217 neurology & neurosurgery, 030304 developmental biology
Abstract

The radial unit hypothesis provides a framework for global (proliferation) and regional (distribution) expansion of the primate cerebral cortex. Using principal component analysis (PCA), we have identified cortical regions with shared variance in their surface area and cortical thickness, respectively, segmented from magnetic resonance images obtained in 23,800 participants. We then carried out meta-analyses of genome-wide association studies of the first two principal components for each phenotype. For surface area (but not cortical thickness), we have detected strong associations between each of the components and single nucleotide polymorphisms in a number of gene loci. The first (global) component was associated mainly with loci on chromosome 17 (9.5e-32 ≤ p ≤ 2.8e-10), including those detected previously as linked with intracranial volume and/or general cognitive function. The second (regional) component captured shared variation in the surface area of the primary and adjacent secondary visual cortices and showed a robust association with polymorphisms in a locus on chromosome 14 containing Disheveled Associated Activator of Morphogenesis 1 (DAAM1; p=2.4e-34). DAAM1 is a key component in the planar-cell-polarity signaling pathway. In follow-up studies, we have focused on the latter finding and established that: (1) DAAM1 is highly expressed between 12th and 22nd post-conception weeks in the human cerebral cortex; (2) genes co-expressed with DAAM1 in the primary visual cortex are enriched in mitochondria-related pathways; and (3) volume of the lateral geniculate nucleus, which projects to regions of the visual cortex staining for cytochrome oxidase (a mitochondrial enzyme), correlates with the surface area of the visual cortex in major-allele homozygotes but not in carriers of the minor allele. Altogether, we speculate that, in concert with thalamocortical input to cortical subplate, DAAM1 enables migration of neurons to cytochrome-oxidase rich regions of the visual cortex, and, in turn, facilitates regional expansion of this set of cortical regions during development.

Published
2018
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40. Exploring the role of low-frequency and rare exonic variants in alcohol and tobacco use

Author

Marees, Andries T., Hammerschlag, Anke R., Bastarache, Lisa, de Kluiver, Hilde, Vorspan, Florence, van den Brink, Wim, Smit, Dirk J., Denys, Damiaan, Gamazon, Eric R., Li-Gao, Ruifang, Breetvelt, Elemi J., de Groot, Mark C.H., Galesloot, Tessel E., Vermeulen, Sita H., Poppelaars, Jan L., Souverein, Patrick C., Keeman, Renske, de Mutsert, Renée, Noordam, Raymond, Rosendaal, Frits R., Stringa, Najada, Mook-Kanamori, Dennis O., Vaartjes, Ilonca, Kiemeney, Lambertus A., den Heijer, Martin, van Schoor, Natasja M., Klungel, Olaf H., Maitland-Van der Zee, Anke H., Schmidt, Marjanka K., Polderman, Tinca J.C., van der Leij, Andries R., Posthuma, Danielle, Derks, Eske M., Marees, Andries T., Hammerschlag, Anke R., Bastarache, Lisa, de Kluiver, Hilde, Vorspan, Florence, van den Brink, Wim, Smit, Dirk J., Denys, Damiaan, Gamazon, Eric R., Li-Gao, Ruifang, Breetvelt, Elemi J., de Groot, Mark C.H., Galesloot, Tessel E., Vermeulen, Sita H., Poppelaars, Jan L., Souverein, Patrick C., Keeman, Renske, de Mutsert, Renée, Noordam, Raymond, Rosendaal, Frits R., Stringa, Najada, Mook-Kanamori, Dennis O., Vaartjes, Ilonca, Kiemeney, Lambertus A., den Heijer, Martin, van Schoor, Natasja M., Klungel, Olaf H., Maitland-Van der Zee, Anke H., Schmidt, Marjanka K., Polderman, Tinca J.C., van der Leij, Andries R., Posthuma, Danielle, and Derks, Eske M.

Published
2018

41. Exploring the role of low-frequency and rare exonic variants in alcohol and tobacco use

Author

Ontwikkelingsstoornissen Med., LKCH Research Hoofdanalist, CDL Arcadia, Other research (not in main researchprogram), Cardiovasculaire Epi Team 4, Circulatory Health, JC onderzoeksprogramma Cardiovasculaire Epidemiologie, Global Health, JC onderzoeksprogramma Methodologie, Marees, Andries T., Hammerschlag, Anke R., Bastarache, Lisa, de Kluiver, Hilde, Vorspan, Florence, van den Brink, Wim, Smit, Dirk J., Denys, Damiaan, Gamazon, Eric R., Li-Gao, Ruifang, Breetvelt, Elemi J., de Groot, Mark C.H., Galesloot, Tessel E., Vermeulen, Sita H., Poppelaars, Jan L., Souverein, Patrick C., Keeman, Renske, de Mutsert, Renée, Noordam, Raymond, Rosendaal, Frits R., Stringa, Najada, Mook-Kanamori, Dennis O., Vaartjes, Ilonca, Kiemeney, Lambertus A., den Heijer, Martin, van Schoor, Natasja M., Klungel, Olaf H., Maitland-Van der Zee, Anke H., Schmidt, Marjanka K., Polderman, Tinca J.C., van der Leij, Andries R., Posthuma, Danielle, Derks, Eske M., Ontwikkelingsstoornissen Med., LKCH Research Hoofdanalist, CDL Arcadia, Other research (not in main researchprogram), Cardiovasculaire Epi Team 4, Circulatory Health, JC onderzoeksprogramma Cardiovasculaire Epidemiologie, Global Health, JC onderzoeksprogramma Methodologie, Marees, Andries T., Hammerschlag, Anke R., Bastarache, Lisa, de Kluiver, Hilde, Vorspan, Florence, van den Brink, Wim, Smit, Dirk J., Denys, Damiaan, Gamazon, Eric R., Li-Gao, Ruifang, Breetvelt, Elemi J., de Groot, Mark C.H., Galesloot, Tessel E., Vermeulen, Sita H., Poppelaars, Jan L., Souverein, Patrick C., Keeman, Renske, de Mutsert, Renée, Noordam, Raymond, Rosendaal, Frits R., Stringa, Najada, Mook-Kanamori, Dennis O., Vaartjes, Ilonca, Kiemeney, Lambertus A., den Heijer, Martin, van Schoor, Natasja M., Klungel, Olaf H., Maitland-Van der Zee, Anke H., Schmidt, Marjanka K., Polderman, Tinca J.C., van der Leij, Andries R., Posthuma, Danielle, and Derks, Eske M.

Published
2018

45. Exploring the role of low-frequency and rare exonic variants in alcohol and tobacco use

Author

Marees, Andries T., primary, Hammerschlag, Anke R., additional, Bastarache, Lisa, additional, de Kluiver, Hilde, additional, Vorspan, Florence, additional, van den Brink, Wim, additional, Smit, Dirk J., additional, Denys, Damiaan, additional, Gamazon, Eric R., additional, Li-Gao, Ruifang, additional, Breetvelt, Elemi J., additional, de Groot, Mark C.H., additional, Galesloot, Tessel E., additional, Vermeulen, Sita H., additional, Poppelaars, Jan L., additional, Souverein, Patrick C., additional, Keeman, Renske, additional, de Mutsert, Renée, additional, Noordam, Raymond, additional, Rosendaal, Frits R., additional, Stringa, Najada, additional, Mook-Kanamori, Dennis O., additional, Vaartjes, Ilonca, additional, Kiemeney, Lambertus A., additional, den Heijer, Martin, additional, van Schoor, Natasja M., additional, Klungel, Olaf H., additional, Maitland-Van der Zee, Anke H., additional, Schmidt, Marjanka K., additional, Polderman, Tinca J.C., additional, van der Leij, Andries R., additional, Posthuma, Danielle, additional, and Derks, Eske M., additional

Published
2018
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49. Sex differences and gender-invariance of mother-reported childhood problem behavior.

Author

Sluis, Sophie, Polderman, Tinca J.C., Neale, Michael C., Verhulst, Frank C., Posthuma, Danielle, and Dieleman, Gwen C.

Subjects
*GENDER differences (Psychology), *POPULATION-based case control, *PATHOLOGICAL psychology, *BEHAVIOR disorders in children, *CHILD Behavior Checklist, *CHILD psychiatry
Abstract

Prevalence and severity of childhood behavioral problems differ between boys and girls, and in psychiatry, testing for gender differences is common practice. Population-based studies show that many psychopathology scales are (partially) Measurement Invariance (MI) with respect to gender, i.e. are unbiased. It is, however, unclear whether these studies generalize towards clinical samples. In a psychiatric outpatient sample, we tested whether the Child Behavior Checklist 6-18 (CBCL) is unbiased with respect to gender. We compared mean scores across gender of all syndrome scales of the CBCL in 3271 patients (63.3% boys) aged 6-18. Second, we tested for MI on both the syndrome scale and the item-level using a stepwise modeling procedure. Six of the eight CBCL syndrome scales included one or more gender-biased items (12.6% of all items), resulting in slight over- or under-estimation of the absolute gender difference in mean scores. Two scales, Somatic Complaints and Rule-breaking Behavior, contained no biased items. The CBCL is a valid instrument to measure gender differences in problem behavior in children and adolescents from a clinical sample; while various gender-biased items were identified, the resulting bias was generally clinically irrelevant, and sufficient items per subscale remained after exclusion of biased items. Copyright © 2016 John Wiley & Sons, Ltd. [ABSTRACT FROM AUTHOR]

Published
2017
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