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733 results on '"Cormand, Bru"'

52. Statistical and functional convergence of common and rare genetic influences on autism at chromosome 16p

Author

Weiner, Daniel J., Ling, Emi, Erdin, Serkan, Tai, Derek J. C., Yadav, Rachita, Grove, Jakob, Fu, Jack M., Nadig, Ajay, Carey, Caitlin E., Baya, Nikolas, Bybjerg-Grauholm, Jonas, Mortensen, Preben B., Werge, Thomas, Demontis, Ditte, Mors, Ole, Nordentoft, Merete, Als, Thomas D., Baekvad-Hansen, Marie, Rosengren, Anders, Havdahl, Alexandra, Hedemand, Anne, Palotie, Aarno, Chakravarti, Aravinda, Arking, Dan, Sulovari, Arvis, Starnawska, Anna, Thiruvahindrapuram, Bhooma, de Leeuw, Christiaan, Carey, Caitlin, Ladd-Acosta, Christine, van der Merwe, Celia, Devlin, Bernie, Cook, Edwin H., Eichler, Evan, Corfield, Elisabeth, Dieleman, Gwen, Schellenberg, Gerard, Hakonarson, Hakon, Coon, Hilary, Dziobek, Isabel, Vorstman, Jacob, Girault, Jessica, Sutcliffe, James S., Duan, Jinjie, Nurnberger, John, Hallmayer, Joachim, Buxbaum, Joseph, Piven, Joseph, Weiss, Lauren, Davis, Lea, Janecka, Magdalena, Mattheisen, Manuel, State, Matthew W., Gill, Michael, Daly, Mark, Uddin, Mohammed, Andreassen, Ole, Szatmari, Peter, Lee, Phil Hyoun, Anney, Richard, Ripke, Stephan, Satterstrom, Kyle, Santangelo, Susan, Kuo, Susan, van Elst, Ludger Tebartz, Rolland, Thomas, Bougeron, Thomas, Polderman, Tinca, Turner, Tychele, Underwood, Jack, Manikandan, Veera, Pillalamarri, Vamsee, Warrier, Varun, Philipsen, Alexandra, Reif, Andreas, Hinney, Anke, Cormand, Bru, Bau, Claiton H. D., Rovaris, Diego Luiz, Sonuga-Barke, Edmund, Corfield, Elizabeth, Grevet, Eugenio Horacio, Salum, Giovanni, Larsson, Henrik, Buitelaar, Jan, Haavik, Jan, McGough, James, Kuntsi, Jonna, Elia, Josephine, Lesch, Klaus-Peter, Klein, Marieke, Bellgrove, Mark, Tesli, Martin, Leung, Patrick W. L., Pan, Pedro M., Dalsgaard, Soren, Loo, Sandra, Medland, Sarah, Faraone, Stephen V., Reichborn-Kjennerud, Ted, Banaschewski, Tobias, Hawi, Ziarih, Berretta, Sabina, Macosko, Evan Z., Sebat, Jonathan, O’Connor, Luke J., Hougaard, David M., Børglum, Anders D., Talkowski, Michael E., McCarroll, Steven A., Robinson, Elise B., Pediatrics, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Neuroscience - Compulsivity, Impulsivity & Attention, Hinney, Anke (Beitragende*r), Child and Adolescent Psychiatry / Psychology, Centre of Excellence in Complex Disease Genetics, Research Programs Unit, Aarno Palotie / Principal Investigator, Institute for Molecular Medicine Finland, Genomics of Neurological and Neuropsychiatric Disorders, Complex Trait Genetics, and Clinical Developmental Psychology

Subjects
Genètica humana, DNA Copy Number Variations, Autism, 3112 Neurosciences, Medizin, Chromosomes, Cromosomes, Human genetics, Genetics, Humans, Autistic Disorder, Chromosome Deletion, Chromosomes, Human, Pair 16/genetics, Autisme, Chromosomes, Human, Pair 16, Autistic Disorder/genetics
Abstract

in press, weitere Verfasser:innen aus Einrichtungen außerhalb der Universität Duisburg-Essen sind nicht aufgeführt. The canonical paradigm for converting genetic association to mechanism involves iteratively mapping individual associations to the proximal genes through which they act. In contrast, in the present study we demonstrate the feasibility of extracting biological insights from a very large region of the genome and leverage this strategy to study the genetic influences on autism. Using a new statistical approach, we identified the 33-Mb p-arm of chromosome 16 (16p) as harboring the greatest excess of autism’s common polygenic influences. The region also includes the mechanistically cryptic and autism-associated 16p11.2 copy number variant. Analysis of RNA-sequencing data revealed that both the common polygenic influences within 16p and the 16p11.2 deletion were associated with decreased average gene expression across 16p. The transcriptional effects of the rare deletion and diffuse common variation were correlated at the level of individual genes and analysis of Hi-C data revealed patterns of chromatin contact that may explain this transcriptional convergence. These results reflect a new approach for extracting biological insight from genetic association data and suggest convergence of common and rare genetic influences on autism at 16p.

Published
2022

53. PLEIOTROPIC EFFECTS OF RBFOX1 IN PSYCHIATRIC PHENOTYPES FROM ZEBRAFISH STUDIES

Author

Fernàndez-Castillo, Noèlia, primary, Antón-Galindo, Ester, additional, Adel, Maja, additional, Guasch-Piqueras, Marc, additional, Orlandi, Javier G., additional, Castro, Gustavo, additional, Cabana-Domínguez, Judit, additional, López-Blanch, Laura, additional, Gomila-Juaneda, Alexandre, additional, Irimia, Manuel, additional, Loza-Álvarez, Pablo, additional, Norton, William, additional, and Cormand, Bru, additional

Published
2022
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59. A causal effects of gut microbiota in the development of migraine.

Author

He, Qiang, Wang, Wenjing, Xiong, Yang, Tao, Chuanyuan, Ma, Lu, Ma, Junpeng, You, Chao, Anttila, Verneri, Artto, Ville, Belin, Andrea C., Bjornsdottir, Anna, Bjornsdottir, Gyda, Boomsma, Dorret I., Børte, Sigrid, Chalmer, Mona A., Chasman, Daniel I., Cormand, Bru, Cuenca-Leon, Ester, Davey-Smith, George, and de Boer, Irene

Subjects
MIGRAINE diagnosis, BRAIN, GASTROINTESTINAL system, GUT microbiome, MIGRAINE, SINGLE nucleotide polymorphisms, GENOME-wide association studies, HEADACHE
Abstract

Background: The causal association between the gut microbiome and the development of migraine and its subtypes remains unclear. Methods: The single nucleotide polymorphisms concerning gut microbiome were retrieved from the gene-wide association study (GWAS) of the MiBioGen consortium. The summary statistics datasets of migraine, migraine with aura (MA), and migraine without aura (MO) were obtained from the GWAS meta-analysis of the International Headache Genetics Consortium (IHGC) and FinnGen consortium. Inverse variance weighting (IVW) was used as the primary method, complemented by sensitivity analyses for pleiotropy and increasing robustness. Results: In IHGC datasets, ten, five, and nine bacterial taxa were found to have a causal association with migraine, MA, and MO, respectively, (IVW, all P < 0.05). Genus.Coprococcus3 and genus.Anaerotruncus were validated in FinnGen datasets. Nine, twelve, and seven bacterial entities were identified for migraine, MA, and MO, respectively. The causal association still exists in family.Bifidobacteriaceae and order.Bifidobacteriales for migraine and MO after FDR correction. The heterogeneity and pleiotropy analyses confirmed the robustness of IVW results. Conclusion: Our study demonstrates that gut microbiomes may exert causal effects on migraine, MA, and MO. We provide novel evidence for the dysfunction of the gut-brain axis on migraine. Future study is required to verify the relationship between gut microbiome and the risk of migraine and its subtypes and illustrate the underlying mechanism between them. [ABSTRACT FROM AUTHOR]

Published
2023
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62. Evaluation of single nucleotide polymorphisms in the miR-183–96–182 cluster in adulthood attention-deficit and hyperactivity disorder (ADHD) and substance use disorders (SUDs)

Author

Sánchez-Mora, Cristina, Ramos-Quiroga, Josep-Antoni, Garcia-Martínez, Iris, Fernàndez-Castillo, Noelia, Bosch, Rosa, Richarte, Vanesa, Palomar, Gloria, Nogueira, Mariana, Corrales, Montse, Daigre, Constanza, Martínez-Luna, Nieves, Grau-Lopez, Lara, Toma, Claudio, Cormand, Bru, Roncero, Carlos, Casas, Miguel, and Ribasés, Marta

Published
2013
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64. ¿Es el autismo un trastorno genético?

Author

Mitjans, Marina and Cormand, Bru

Subjects
Autism, Autisme
Abstract

¿El autista nace o se hace? ¿Pesan más los factores ambientales o los genes en estos trastornos del neurodesarrollo? Gracias a los estudios de gemelos sabemos que el secreto para entender el TEA se encuentra principalmente en el genoma.

Published
2022

65. Deficiency of the ywhaz gene, involved in neurodevelopmental disorders, alters brain activity and behaviour in zebrafish

Author

Universitat Politècnica de Catalunya. Departament d'Enginyeria Agroalimentària i Biotecnologia, Universitat Politècnica de Catalunya. HorPTA - Horticultura: producció, transformació i aprofitament, Antón Galindo, Ester, Dalla Vecchia, Luisa Felix, Gómez Orlandi, Javier, Castro Olvera, Gustavo, Guasch Piqueras, Marc, Arenas Sola, Concepción, García Fernandez, Jordi, Gualda Manzano, Emilio José, Herrera Úbeda, Carlos, Aguado Tomas, Fernando, Loza Álvarez, Pablo, Cormand, Bru, Norton, William H.J., Fernández Castillo, Noelia, Young, Andrew M.J., Universitat Politècnica de Catalunya. Departament d'Enginyeria Agroalimentària i Biotecnologia, Universitat Politècnica de Catalunya. HorPTA - Horticultura: producció, transformació i aprofitament, Antón Galindo, Ester, Dalla Vecchia, Luisa Felix, Gómez Orlandi, Javier, Castro Olvera, Gustavo, Guasch Piqueras, Marc, Arenas Sola, Concepción, García Fernandez, Jordi, Gualda Manzano, Emilio José, Herrera Úbeda, Carlos, Aguado Tomas, Fernando, Loza Álvarez, Pablo, Cormand, Bru, Norton, William H.J., Fernández Castillo, Noelia, and Young, Andrew M.J.

Abstract

Genetic variants in YWHAZ contribute to psychiatric disorders such as autism spectrum disorder and schizophrenia, and have been related to an impaired neurodevelopment in humans and mice. Here, we have used zebrafish to investigate the mechanisms by which YWHAZ contributes to neurodevelopmental disorders. We observed that ywhaz expression was pan-neuronal during developmental stages and restricted to Purkinje cells in the adult cerebellum, cells that are described to be reduced in number and size in autistic patients., GCaMP6s albino zebrafish embryos were generated by the National Institute of Genetics (Japan) and obtained from Dr. Matt Parker from the University of Portsmouth, UK. The Tg(aldoca:gap43-Venus) line was obtained from Masahiko Hibi from the Bioscience and Biotechnology Center of Nagoya University, Japan. Tg(olig2:egfp)vu12 brains were obtained from the Center for Developmental Biology, UMR 5547 CNRS, Toulouse, France. Major financial support for this research was received by BC from the Spanish ‘Ministerio de Ciencia, Innovación y Universidades’ (RTI2018-100968-B-100, PID2021-1277760B-I100), the ‘Ministerio de Sanidad, Servicios Sociales e Igualdad/Plan Nacional Sobre Drogas’ (PNSD-2017I050 and PNSD-2020I042), ‘Generalitat de Catalunya/AGAUR’ (2017-SGR-738), ICREA Academia 2021, and the European Union H2020 Program [H2020/2014-2020] under grant agreements n° 667302 (CoCA) and Eat2beNICE (728018). E.A-G was supported by the Ministerio de Economía y Competitividad (Spanish Government) and the EU H2020 program (Eat2beNICE-728018). G.C., E.G. and P.L-A acknowledge financial support from the Spanish Ministerio de Economía y Competitividad (MINECO) through the “Severo Ochoa” program for Centres of Excellence in R&D CEX2019-000910-S), MINECO/FEDER Ramon y Cajal program (RYC-2015-17935); Laserlab-Europe EU-H2020 GA no. 871124, Fundació Privada Cellex, Fundación Mig-Puig and from the Generalitat de Catalunya through the CERCA program. F.A. acknowledges financial support from the Spanish ‘Ministerio de Ciencia, Innovación y Universidades’ (PID2019-107738RB-I00, MICINN/FEDER) and SGR (2017SGR1255)., Postprint (author's final draft)

Published
2022

66. Behavioural and functional evidence revealing the role of RBFOX1 variation in multiple psychiatric disorders and traits

Author

O'Leary, Aet, Fernandez-Castillo, Noelia, Gan, Gabriela, Yang, Yunbo, Yotova, Anna Y., Kranz, Thorsten M., Gruenewald, Lena, Freudenberg, Florian, Anton-Galindo, Ester, Cabana-Dominguez, Judit, Harneit, Anais, Schweiger, Janina, I, Schwarz, Kristina, Ma, Ren, Chen, Junfang, Schwarz, Emanuel, Rietschel, Marcella, Tost, Heike, Meyer-Lindenberg, Andreas, Pane-Farre, Christiane A., Kircher, Tilo, Hamm, Alfons O., Burguera, Demian, Mota, Nina Roth, Franke, Barbara, Schweiger, Susann, Winter, Jennifer, Heinz, Andreas, Erk, Susanne, Romanczuk-Seiferth, Nina, Walter, Henrik, Stroehle, Andreas, Fehm, Lydia, Fydrich, Thomas, Lueken, Ulrike, Weber, Heike, Lang, Thomas, Gerlach, Alexander L., Noethen, Markus M., Alpers, Georg W., Arolt, Volker, Witt, Stephanie, Richter, Jan, Straube, Benjamin, Cormand, Bru, Slattery, David A., Reif, Andreas, O'Leary, Aet, Fernandez-Castillo, Noelia, Gan, Gabriela, Yang, Yunbo, Yotova, Anna Y., Kranz, Thorsten M., Gruenewald, Lena, Freudenberg, Florian, Anton-Galindo, Ester, Cabana-Dominguez, Judit, Harneit, Anais, Schweiger, Janina, I, Schwarz, Kristina, Ma, Ren, Chen, Junfang, Schwarz, Emanuel, Rietschel, Marcella, Tost, Heike, Meyer-Lindenberg, Andreas, Pane-Farre, Christiane A., Kircher, Tilo, Hamm, Alfons O., Burguera, Demian, Mota, Nina Roth, Franke, Barbara, Schweiger, Susann, Winter, Jennifer, Heinz, Andreas, Erk, Susanne, Romanczuk-Seiferth, Nina, Walter, Henrik, Stroehle, Andreas, Fehm, Lydia, Fydrich, Thomas, Lueken, Ulrike, Weber, Heike, Lang, Thomas, Gerlach, Alexander L., Noethen, Markus M., Alpers, Georg W., Arolt, Volker, Witt, Stephanie, Richter, Jan, Straube, Benjamin, Cormand, Bru, Slattery, David A., and Reif, Andreas

Abstract

Common variation in the gene encoding the neuron-specific RNA splicing factor RNA Binding Fox-1 Homolog 1 (RBFOX1) has been identified as a risk factor for several psychiatric conditions, and rare genetic variants have been found causal for autism spectrum disorder (ASD). Here, we explored the genetic landscape of RBFOX1 more deeply, integrating evidence from existing and new human studies as well as studies in Rbfox1 knockout mice. Mining existing data from large-scale studies of human common genetic variants, we confirmed gene-based and genome-wide association of RBFOX1 with risk tolerance, major depressive disorder and schizophrenia. Data on six mental disorders revealed copy number losses and gains to be more frequent in ASD cases than in controls. Consistently, RBFOX1 expression appeared decreased in post-mortem frontal and temporal cortices of individuals with ASD and prefrontal cortex of individuals with schizophrenia. Brain-functional MRI studies demonstrated that carriers of a common RBFOX1 variant, rs6500744, displayed increased neural reactivity to emotional stimuli, reduced prefrontal processing during cognitive control, and enhanced fear expression after fear conditioning, going along with increased avoidance behaviour. Investigating Rbfox1 neuron-specific knockout mice allowed us to further specify the role of this gene in behaviour. The model was characterised by pronounced hyperactivity, stereotyped behaviour, impairments in fear acquisition and extinction, reduced social interest, and lack of aggression; it provides excellent construct and face validity as an animal model of ASD. In conclusion, convergent translational evidence shows that common variants in RBFOX1 are associated with a broad spectrum of psychiatric traits and disorders, while rare genetic variation seems to expose to early-onset neurodevelopmental psychiatric disorders with and without developmental delay like ASD, in particular. Studying the pleiotropic nature of RBFOX1 can profoun

Published
2022

67. New Distance-Based approach for Genome-Wide Association Studies

Author

Ciencia de la computación e inteligencia artificial, Konputazio zientziak eta adimen artifiziala, Irigoyen Garbizu, Itziar, Cormand, Bru, Soler Artigas, María, Sánchez Mora, Cristina, Ramos Quiroga, Josep Antoni, Arenas Solá, Concepción, Ciencia de la computación e inteligencia artificial, Konputazio zientziak eta adimen artifiziala, Irigoyen Garbizu, Itziar, Cormand, Bru, Soler Artigas, María, Sánchez Mora, Cristina, Ramos Quiroga, Josep Antoni, and Arenas Solá, Concepción

Abstract

With the rise of genome-wide association studies (GWAS), the analysis of typical GWAS data sets with thousands of single-nucleotide polymorphisms (SNPs) has become crucial in biomedicine research. Here, we propose a new method to identify SNPs related to disease in case-control studies. The method, based on genetic distances between individuals, takes into account the possible population substructure, and avoids the issues of multiple testing. The method provides two ordered lists of SNPs; one with SNPs which minor alleles can be considered risk alleles for the disease, and another one with SNPs which minor alleles can be considered as protective. These two lists provide a useful tool to help the researcher to decide where to focus attention in a first stage.

Published
2022

68. A regulator gene with an impact: RBFOX1 and its role in neuropsychiatric disorders

Author

ECNP Workshop for Early Career Scientists in Europe (2022: Nizza), Yotova, Anna Y., O'Leary, Aet, Fernàndez-Castillo, Noèlia, Gan, Gabriela, Antón-Galindo, Ester, Cabana-Domínguez, Judit, Kranz, Thorsten M., Grünewald, Lena, Mota, Nina Roth, Franke, Barbara, Straube, Benjamin, Lueken, Ulrike, Weber, Heike, Pauli, Paul, Freudenberg, Florian, Cormand, Bru, Slattery, David A., Reif, Andreas, ECNP Workshop for Early Career Scientists in Europe (2022: Nizza), Yotova, Anna Y., O'Leary, Aet, Fernàndez-Castillo, Noèlia, Gan, Gabriela, Antón-Galindo, Ester, Cabana-Domínguez, Judit, Kranz, Thorsten M., Grünewald, Lena, Mota, Nina Roth, Franke, Barbara, Straube, Benjamin, Lueken, Ulrike, Weber, Heike, Pauli, Paul, Freudenberg, Florian, Cormand, Bru, Slattery, David A., and Reif, Andreas

Published
2022

69. The translational genetics of ADHD and related phenotypes in model organisms

Author

Cabana-Domínguez, Judit, Antón-Galindo, Ester, Fernàndez-Castillo, Noèlia, Singgih, Euginia L., O'Leary, Aet, Norton, William H. G., Strekalova, Tatyana, Schenck, Annette, Reif, Andreas, Lesch, Klaus-Peter J., Slattery, David A., Cormand, Bru, Cabana-Domínguez, Judit, Antón-Galindo, Ester, Fernàndez-Castillo, Noèlia, Singgih, Euginia L., O'Leary, Aet, Norton, William H. G., Strekalova, Tatyana, Schenck, Annette, Reif, Andreas, Lesch, Klaus-Peter J., Slattery, David A., and Cormand, Bru

Abstract

Highlights • Overview on functional work performed in rodent, zebrafish and fruit fly models of ADHD and its comorbidities. • Comprehensive search for new genetically modified mouse models to study ADHD-related and comorbid traits. • Review of behavioral assays available in animal models to test ADHD-related and comorbid traits. • Animal models to assess environmental effects contributing to the epigenetic mechanisms of ADHD and comorbidities. Abstract Attention-deficit/hyperactivity disorder (ADHD) is a highly prevalent neurodevelopmental disorder resulting from the interaction between genetic and environmental risk factors. It is well known that ADHD co-occurs frequently with other psychiatric disorders due, in part, to shared genetics factors. Although many studies have contributed to delineate the genetic landscape of psychiatric disorders, their specific molecular underpinnings are still not fully understood. The use of animal models can help us to understand the role of specific genes and environmental stimuli-induced epigenetic modifications in the pathogenesis of ADHD and its comorbidities. The aim of this review is to provide an overview on the functional work performed in rodents, zebrafish and fruit fly and highlight the generated insights into the biology of ADHD, with a special focus on genetics and epigenetics. We also describe the behavioral tests that are available to study ADHD-relevant phenotypes and comorbid traits in these models. Furthermore, we have searched for new models to study ADHD and its comorbidities, which can be useful to test potential pharmacological treatments.

Published
2022

71. List of Contributors

Author

Abdalla, Renata Rigacci, primary, Abekawa, Tomohiro, additional, Adamczyk, Przemysław, additional, Adams, Wendy, additional, Addy, Peter H., additional, Ago, Yukio, additional, Álvaro-Bartolomé, María, additional, Andellini, Martina, additional, Andrzejewski, Matthew E., additional, Angarita, Gustavo A., additional, Angoa-Pérez, Mariana, additional, Anneken, John H., additional, Antunes, Luís, additional, Ardakani, Yalda Hosseinzadeh, additional, Aydin, Mustafa, additional, Badri, Nima, additional, Bajpai, Ram C., additional, Barbosa, Daniel José, additional, Barrós-Loscertales, Alfonso, additional, Basu, Debasish, additional, Becker, Benjamin, additional, Beckley, Jacob T., additional, Bermejo, Pablo García, additional, Berro, Laís F., additional, Blaker, Amanda L., additional, Bodoki, Ede, additional, Borowiak, Krzysztof, additional, Bowen, Scott E., additional, Broderick, Patricia A., additional, Brogaard, Berit, additional, Brolese, Giovana, additional, Brunt, T.M., additional, Buchborn, T., additional, Butelman, Eduardo R., additional, Caetano, Raul, additional, Campos, Sónia, additional, Canavan, Sofija V., additional, Capela, João Paulo, additional, Carta, Manolo, additional, Carvalho, Félix, additional, Carvelli, Lucia, additional, Catlow, Briony J., additional, Chang, Young-Tae, additional, Chaturvedi, Himanshu K., additional, Chilachava, Lela, additional, Choodum, Aree, additional, Clough, Shannon J., additional, Coelho-Santos, Vanessa, additional, Coimbra, Ana Maria, additional, Collins, Stuart A., additional, Cormand, Bru, additional, Dahan, Albert, additional, Dakwar, Elias, additional, Dávalos E., Antonio, additional, de Jong, Cor, additional, de Lourdes Bastos, Maria, additional, Del Bigio, Marc R., additional, Dembińska, Teresa, additional, Deveci, Ugur, additional, Dieterich, D.C., additional, Dijkstra, Boukje, additional, Dluzen, Dean E., additional, Dubocovich, Margarita L., additional, Esperón, Carlos García, additional, Fang, Chun-Kai, additional, Farnia, Vahid, additional, Félix, Luís, additional, Fernàndez-Castillo, Noelia, additional, Flack, Daniel, additional, Frauger, Elisabeth, additional, Frohlich, Joel, additional, Fukushiro, Daniela F., additional, García, Daniel A., additional, Julia García-Fuster, M., additional, García-Sevilla, Jesús A., additional, Garland, Eric L., additional, Gatzia, Dimitria Electra, additional, Gelazonia, Lia, additional, Ghosh, Abhishek, additional, Gigengack, Roy, additional, Golshani, Senobar, additional, Gonçalves, Joana, additional, González-Maeso, Javier, additional, Gorman, Ingmar, additional, Grandy, David K., additional, Grecksch, G., additional, Greer, Alissa M., additional, Gudelsky, Gary A., additional, Guillot, Casey, additional, Gulley, Joshua M., additional, Hagino, Yoko, additional, Hallock, Robert M., additional, Hankosky, Emily R., additional, Hanks, James B., additional, Hart, Carl, additional, Hasselmann, H.W.W., additional, Hida, Hirotake, additional, Hodges, Sarah E., additional, Holder, Nicole, additional, Hollais, André W., additional, Höllt, V., additional, Horacek, Jiri, additional, Howard, Matthew O., additional, Howells, Fleur Margaret, additional, Hsin-Hsien Yeh, Skye, additional, Huang, Mei, additional, Hutchinson, Anthony J., additional, Hwang, Jeng-Jong, additional, Ikeda, Kazutaka, additional, Iudicello, Jennifer E., additional, Jalloh, Ahmad, additional, Jamali, Bardia, additional, Japaridze, Nadezhda, additional, Jodo, Eiichi, additional, Joordens, Chantele, additional, Kalayasiri, Rasmon, additional, Kamal, Rama, additional, Kamegaya, Etsuko, additional, Katayama, Tadahiro, additional, Keasling, Adam W., additional, Kikura-Hanajiri, Ruri, additional, Kirkpatrick, Matthew, additional, Kiss, Béla, additional, Kočárová, Rita, additional, Kokane, Saurabh S., additional, Kreek, Mary Jeanne, additional, Kufahl, Peter R., additional, Kuhn, Donald M., additional, Kumazawa, Takeshi, additional, Kusljic, Snezana, additional, Łabuz, Krzysztof, additional, Lapeyre-Mestre, Maryse, additional, Laranjeira, Ronaldo Ramos, additional, Lawrence, Andrew J., additional, Lee, Byung Dae, additional, Leitão, Ricardo Alexandre, additional, Leung, L. Stan, additional, Li, Chiang-Shan R., additional, Li, Meng, additional, Lin, Qing, additional, Loghin, Felicia, additional, López-Cancio M., Elena, additional, Lyke, Jennifer, additional, Lyvers, Michael, additional, Macdonald, Scott, additional, Madruga, Clarice Sandi, additional, Maes, Michael, additional, Maher, Timothy J., additional, Ma, Jingyi, additional, Mandyam, Chitra D., additional, Mardones, Claudia, additional, Martin, Gina, additional, Massaro, Luciana, additional, Matsuda, Toshio, additional, McMaster, M.T.B., additional, Melloni, Richard H., additional, Meltzer, Herbert Y., additional, Micallef, Joëlle, additional, Mironidou-Tzouveleki, Maria, additional, Mishina, Masayoshi, additional, Mitsuhiro, Sandro, additional, Montag, Christian, additional, Moore, Elisabeth, additional, Morgan, Erin E., additional, Morgan, Peter T., additional, Morimoto, Satoshi, additional, Morrison, Thomas R., additional, Moszczynska, Anna, additional, Mouri, Akihiro, additional, Napolitano, Antonio, additional, Neugebauer, Nichole M., additional, NicDaeid, Niamh, additional, Nichols, Charles D., additional, Nizama-Valladolid, Martin, additional, Noda, Yukihiro, additional, Northrop, Nicole A., additional, Olive, M. Foster, additional, Ostrow, Rory D., additional, Oudejans, Linda C.J., additional, Palenicek, Tomas, additional, Pandey, Arvind, additional, Papp, Mariusz, additional, Passos, Ioannis D., additional, Paudel, Madan Kumar, additional, Perillo, Maria A., additional, Perry, Christina J., additional, Petronijević, Nataša, additional, Phattanarudee, Siripan, additional, Pinsky, Ilana, additional, Pochkhidze, Nino, additional, Pop, Anca, additional, Possa, Marianne, additional, Potocka-Banaś, Barbara, additional, Quednow, Boris B., additional, Radonjić, Nevena V., additional, Rajagopal, Lakshmi, additional, Ribasés, Marta, additional, Ricci, Lesley A., additional, Rosales, Carola Vergara, additional, Rouini, Mohammad-Reza, additional, Sanchez-Ramos, Juan, additional, Santos-Baldaia, Renan, additional, Sarkar, Siddharth, additional, Sasaki-Tabata, Kaori, additional, Sato, Naomi, additional, Sato, Tomonori, additional, Sawada, Wakako, additional, Schuch, Silvia Bassani, additional, Sekita, Setsuko, additional, Serrano, Eduardo Alvear, additional, Sheikholeslami, Behjat, additional, Shirota, Osamu, additional, Silva, Ana Paula, additional, Simola, Nicola, additional, Simon, Derek P., additional, Sora, Ichiro, additional, Sordi, Anne Orgler, additional, Spring, Mitchell G., additional, Stebelska, Katarzyna, additional, Sugimura, Haruhiko, additional, Suzuki, Yoshiaki, additional, Takuma, Kazuhiro, additional, Tanaka, Hiroyuki, additional, Torkamanian, Meshkat, additional, Towiwat, Pasarapa, additional, Turina, Anahí V., additional, Tyls, Filip, additional, van Amsterdam, J.G.C., additional, van den Brink, W., additional, van den Buuse, Maarten, additional, Van Horn, John Darrell, additional, van Noorden, Martijn, additional, van Velzen, Monique, additional, Venâncio, Carlos, additional, von Baer, Dietrich, additional, von Diemen, Lisia, additional, Walter, Martin, additional, Wang, Fang, additional, Weber, Erica, additional, Winkler, Petr, additional, Woods, Steven Paul, additional, Woodward, John J., additional, Wu, Chun-Fu, additional, Wuo-Silva, Raphael, additional, Xu, Wang, additional, Yamamoto, Bryan K., additional, Yamamoto, Hideko, additional, Yamamoto, Toshifumi, additional, Yang, Jing-Yu, additional, Zhai, Duanting, additional, Zhvania, Mzia, additional, and Zjawiony, Jordan K., additional

Published
2016
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72. Exploring the contribution to ADHD of genes involved in Mendelian disorders presenting with hyperactivity and/or inattention

Author

Fernàndez-Castillo, Noèlia, Cabana-Domínguez, Judit, Kappel, Djenifer B., Torrico, Bàrbara, Weber, Heike, Lesch, Klaus-Peter, Lao, Oscar, Reif, Andreas, Cormand, Bru, Universitat Autònoma de Barcelona, Psychiatrie & Neuropsychologie, and RS: MHeNs - R3 - Neuroscience

Subjects
Adult, Genetic Markers, Male, EXPRESSION, Genetic variants, Trastorns per dèficit d'atenció amb hiperactivitat en els infants, CORTEX, STRESS, Adolescent, Comorbidity, QH426-470, Pneumonia, Aspiration, Attention deficit disorder with hyperactivity in children, Article, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Exome Sequencing, mental disorders, Genetics, Humans, ADHD, ddc:610, BRAIN, GENOME-WIDE ASSOCIATION, METAANALYSIS, Genetics (clinical), Aged, 030304 developmental biology, 0303 health sciences, genetic variants, MEMORY, rare mendelian disorders, Middle Aged, 3. Good health, Phenotype, Attention Deficit Disorder with Hyperactivity, Case-Control Studies, Trastorns per dèficit d'atenció amb hiperactivitat en els adults, Attention deficit disorder with hyperactivity in adults, Female, Rare mendelian disorders, SCHNURRI-2, Genètica, 030217 neurology & neurosurgery
Abstract

Attention-deficit hyperactivity disorder (ADHD) is a complex neurodevelopmental disorder characterized by hyperactivity, impulsivity, and/or inattention, which are symptoms also observed in many rare genetic disorders. We searched for genes involved in Mendelian disorders presenting with ADHD symptoms in the Online Mendelian Inheritance in Man (OMIM) database, to curate a list of new candidate risk genes for ADHD. We explored the enrichment of functions and pathways in this gene list, and tested whether rare or common variants in these genes are associated with ADHD or with its comorbidities. We identified 139 genes, causal for 137 rare disorders, mainly related to neurodevelopmental and brain function. Most of these Mendelian disorders also present with other psychiatric traits that are often comorbid with ADHD. Using whole exome sequencing (WES) data from 668 ADHD cases, we found rare variants associated with the dimension of the severity of inattention symptoms in three genes: KIF11, WAC, and CRBN. Then, we focused on common variants and identified six genes associated with ADHD (in 19,099 cases and 34,194 controls): MANBA, UQCC2, HIVEP2, FOPX1, KANSL1, and AUH. Furthermore, HIVEP2, FOXP1, and KANSL1 were nominally associated with autism spectrum disorder (ASD) (18,382 cases and 27,969 controls), as well as HIVEP2 with anxiety (7016 cases and 14,475 controls), and FOXP1 with aggression (18,988 individuals), which is in line with the symptomatology of the rare disorders they are responsible for. In conclusion, inspecting Mendelian disorders and the genes responsible for them constitutes a valuable approach for identifying new risk genes and the mechanisms of complex disorders. This work was supported mainly by funding from the European Union H2020 Program [H2020/2014–2020, grant agreements n° 667302, 643051 and 728018, corresponding to projects CoCA, coca-project.eu/; Eat2BeNice: newbrainnutrition.com/ (accessed on 16 December 2021); and MiND; www.mind-project.eu (accessed on 16 December 2021), respectively], and from the ‘ECNP network on ADHD across the lifespan’. NC-F received funding from ‘Plan Nacional Sobre Drogas of the Spanish Ministry of Health‘ [PNSD-2020I042] and was supported by a contract of the ‘Centro de Investigación Biomédica en Red de Enfermedades Raras' (CIBERER). BC received funding from the Spanish ‘Ministerio de Economía y Competitividad’ [SAF2015-68341-R, RTI2018-100968-B-100 and PID2021-1277760B-I100], ‘Plan Nacional sobre Drogas of the Spanish Ministry of Health’ [PNSD-2017I050] and AGAUR, ‘Generalitat de Catalunya’ [2017-SGR-738]. JC-D and BT were supported by the H2020 CoCA (n° 667302) and Eat2beNICE (n° 728018) projects. DBK was supported by the European Union H2020 Program [H2020/2014-2020] under grant agreements n° 643051 (MiND) and Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq-148273/2016-5). OL acknowledges the support from Spanish Ministry of Science and Innovation to the EMBL partnership, the Centro de Excelencia Severo Ochoa, CERCA Program/Generalitat de Catalunya, Spanish Ministry of Science and Innovation through the Instituto de Salud Carlos III, Generalitat de Catalunya through Departament de Salut and Departament d’Empresa i Coneixement, Co-financing with funds from the European Regional Development Fund by the Spanish Ministry of Science and Innovation corresponding to the Programa Operativo FEDER Plurirregional de España (POPE) 2014–2020 and by the Secretaria d’Universitats i Recerca, Departament d’Empresa i Coneixement of the Generalitat de Catalunya corresponding to the Programa Operatiu FEDER de Catalunya 2014–2020, Ministerio de Economía y Competitividad (Ministry of Economy and Competitiveness)—RYC-2013-14797, BFU2015-68759-P and PGC2018-098574-B-I00 and Generalitat de Catalunya (Government of Catalonia)—GRC 2017 SGR 937.

Published
2022

76. Causal relationships between migraine and microstructural white matter: a Mendelian randomization study.

Author

Zhao, Lei, Zhao, Wenhui, International Headache Genetics Consortium (IHGC), Anttila, Verneri, Artto, Ville, Belin, Andrea C., Bjornsdottir, Anna, Bjornsdottir, Gyda, Boomsma, Dorret I., Børte, Sigrid, Chalmer, Mona A., Chasman, Daniel I., Cormand, Bru, Cuenca-Leon, Ester, Davey-Smith, George, de Boer, Irene, Dichgans, Martin, Esko, Tonu, Freilinger, Tobias, and Gormley, Padhraig

Subjects
MIGRAINE risk factors, STATISTICS, WHITE matter (Nerve tissue), RISK assessment, GENOME-wide association studies, DESCRIPTIVE statistics, RESEARCH funding, ODDS ratio, DATA analysis, SENSITIVITY & specificity (Statistics), CAUSALITY (Physics)
Abstract

Background: Migraine is a disabling neurological disorder with the pathophysiology yet to be understood. The microstructural alteration in brain white matter (WM) has been suggested to be related to migraine in recent studies, but these evidence are observational essentially and cannot infer a causal relationship. The present study aims to reveal the causal relationship between migraine and microstructural WM using genetic data and Mendelian randomization (MR). Methods: We collected the Genome-wide association study (GWAS) summary statistics of migraine (48,975 cases / 550,381 controls) and 360 WM imaging-derived phenotypes (IDPs) (31,356 samples) that were used to measure microstructural WM. Based on instrumental variables (IVs) selected from the GWAS summary statistics, we conducted bidirectional two-sample MR analyses to infer bidirectional causal associations between migraine and microstructural WM. In forward MR analysis, we inferred the causal effect of microstructural WM on migraine by reporting the odds ratio (OR) that quantified the risk change of migraine for per 1 standard deviation (SD) increase of IDPs. In reverse MR analysis, we inferred the causal effect of migraine on microstructural WM by reporting the β value that represented SDs of changes in IDPs were caused by migraine. Results: Three WM IDPs showed significant causal associations (p < 3.29 × 10− 4, Bonferroni correction) with migraine and were proved to be reliable via sensitivity analysis. The mode of anisotropy (MO) of left inferior fronto-occipital fasciculus (OR = 1.76, p = 6.46 × 10− 5) and orientation dispersion index (OD) of right posterior thalamic radiation (OR = 0.78, p = 1.86 × 10− 4) exerted significant causal effects on migraine. Migraine exerted a significant causal effect on the OD of left superior cerebellar peduncle (β = − 0.09, p = 2.78 × 10− 4). Conclusions: Our findings provided genetic evidence for the causal relationships between migraine and microstructural WM, bringing new insights into brain structure for the development and experience of migraine. [ABSTRACT FROM AUTHOR]

Published
2023
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79. On the role of NOS1 ex1f-VNTR in ADHD—allelic, subgroup, and meta-analysis

Author

Weber, Heike, Kittel-Schneider, Sarah, Heupel, Julia, Weiflog, Lena, Kent, Lindsey, Freudenberg, Florian, Alttoa, Aet, Post, Antonia, Herterich, Sabine, Haavik, Jan, Halmy, Anne, Fasmer, Ole B., Landaas, Elisabeth T., Johansson, Stefan, Cormand, Bru, Ribasés, Marta, Sánchez-Mora, Cristina, Ramos-Quiroga, Josep Antoni, Franke, Barbara, Lesch, Klaus-Peter, and Reif, Andreas

Published
2015
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85. Deficiency of the ywhaz gene, involved in neurodevelopmental disorders, alters brain activity and behaviour in zebrafish

Author

Antón-Galindo, Ester, primary, Vecchia, Elisa Dalla, additional, Orlandi, Javier G, additional, Castro, Gustavo, additional, Gualda, Emilio J, additional, Young, Andrew MJ, additional, Aguado, Fernando, additional, Loza-Alvarez, Pablo, additional, Cormand, Bru, additional, Norton, William HJ, additional, and Fernàndez-Castillo, Noèlia, additional

Published
2021
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86. Author Correction: Risk variants and polygenic architecture of disruptive behavior disorders in the context of attention-deficit/hyperactivity disorder

Author

Demontis, Ditte, Walters, Raymond K, Rajagopal, Veera M, Waldman, Irwin D, Grove, Jakob, Als, Thomas D, Dalsgaard, Søren, Ribasés, Marta, Bybjerg-Grauholm, Jonas, Bækvad-Hansen, Maria, Werge, Thomas, Nordentoft, Merete, Mors, Ole, Mortensen, Preben Bo, Cormand, Bru, Hougaard, David M, Neale, Benjamin M, Franke, Barbara, Faraone, Stephen V, Børglum, Anders D, et al, Steinhausen, Hans-Christoph, University of Zurich, Demontis, Ditte, Faraone, Stephen V, and Børglum, Anders D

Subjects
1300 General Biochemistry, Genetics and Molecular Biology, 610 Medicine & health, 1600 General Chemistry, 10058 Department of Child and Adolescent Psychiatry, 3100 General Physics and Astronomy
Published
2021

87. Author Correction:Risk variants and polygenic architecture of disruptive behavior disorders in the context of attention-deficit/hyperactivity disorder (Nature communications (2021) 12 1 (576))

Author

Demontis, Ditte, Walters, Raymond K., Rajagopal, Veera M., Waldman, Irwin D., Grove, Jakob, Als, Thomas D., Dalsgaard, Søren, Ribasés, Marta, Bybjerg-Grauholm, Jonas, Bækvad-Hansen, Maria, Werge, Thomas, Nordentoft, Merete, Mors, Ole, Mortensen, Preben Bo, Cormand, Bru, Hougaard, David M., Neale, Benjamin M., Franke, Barbara, Faraone, Stephen V., and Børglum, Anders D.

Published
2021

88. Author Correction: Risk variants and polygenic architecture of disruptive behavior disorders in the context of attention-deficit/hyperactivity disorder (Nature Communications, (2021), 12, 1, (576), 10.1038/s41467-020-20443-2)

Author

Demontis, Ditte, Walters, Raymond K., Rajagopal, Veera M., Waldman, Irwin D., Grove, Jakob, Als, Thomas D., Dalsgaard, Søren, Ribasés, Marta, Bybjerg-Grauholm, Jonas, Bækvad-Hansen, Maria, Werge, Thomas, Nordentoft, Merete, Mors, Ole, Mortensen, Preben Bo, Andreassen, Ole A., Arranz, Maria Jesús, Banaschewski, Tobias, Bau, Claiton, Bellgrove, Mark, Biederman, Joseph, Brikell, Isabell, Buitelaar, Jan K., Burton, Christie L., Casas, Miguel, Crosbie, Jennifer, Doyle, Alysa E., Ebstein, Richard P., Elia, Josephine, Elizabeth, Corfield C., Grevet, Eugenio, Grizenko, Natalie, Havdahl, Alexandra, Hawi, Ziarih, Hebebrand, Johannes, Hervas, Amaia, Hohmann, Sarah, Haavik, Jan, Joober, Ridha, Kent, Lindsey, Kuntsi, Jonna, Langley, Kate, Larsson, Henrik, Lesch, Klaus-Peter, Leung, Patrick W. L., Liao, Calwing, Loo, Sandra K., Martin, Joanna, Martin, Nicholas G., Medland, Sarah E., Miranda, Ana, Mota, Nina Roth, Oades, Robert D., Ramos-Quiroga, Josep Antoni, Reif, Andreas, Rietschel, Marcella, Roeyers, Herbert, Rohde, Luis Augusto, Rothenberger, Aribert, Rovira, Paula, Sánchez-Mora, Cristina, Schachar, Russell James, Sengupta, Sarojini, Artigas, Maria Soler, Steinhausen, Hans-Christoph, Thapar, Anita, Witt, Stephanie H., Yang, Li, Zayats, Tetyana, Zhang-James, Yanli, Cormand, Bru, Hougaard, David M., Neale, Benjamin M., Franke, Barbara, Faraone, Stephen V., and Børglum, Anders D.

Subjects
Medizin
Abstract

The original version of this Article contained an error in the spelling of the author Marta Ribasés, which was incorrectly given as Marta Ribasas. This has now been corrected in both the PDF and HTML versions of the Article. CA extern, Korrektur zu: 10.1038/s41467-020-20443-2

Published
2021

89. Exploring the Contribution to ADHD of Genes Involved in Mendelian Disorders Presenting with Hyperactivity and/or Inattention

Author

Fernàndez-Castillo, Noèlia, Cabana-Domínguez, Judit, Kappel, Djenifer B., Torrico, Bàrbara, Weber, Heike, Lesch, Klaus-Peter, Lao, Oscar, Reif, Andreas, Cormand, Bru, Universitat Autònoma de Barcelona, Fernàndez-Castillo, Noèlia, Cabana-Domínguez, Judit, Kappel, Djenifer B., Torrico, Bàrbara, Weber, Heike, Lesch, Klaus-Peter, Lao, Oscar, Reif, Andreas, Cormand, Bru, and Universitat Autònoma de Barcelona

Abstract

Attention-deficit hyperactivity disorder (ADHD) is a complex neurodevelopmental disorder characterized by hyperactivity, impulsivity, and/or inattention, which are symptoms also observed in many rare genetic disorders. We searched for genes involved in Mendelian disorders presenting with ADHD symptoms in the Online Mendelian Inheritance in Man (OMIM) database, to curate a list of new candidate risk genes for ADHD. We explored the enrichment of functions and pathways in this gene list, and tested whether rare or common variants in these genes are associated with ADHD or with its comorbidities. We identified 139 genes, causal for 137 rare disorders, mainly related to neurodevelopmental and brain function. Most of these Mendelian disorders also present with other psychiatric traits that are often comorbid with ADHD. Using whole exome sequencing (WES) data from 668 ADHD cases, we found rare variants associated with the dimension of the severity of inattention symptoms in three genes: KIF11, WAC, and CRBN. Then, we focused on common variants and identified six genes associated with ADHD (in 19,099 cases and 34,194 controls): MANBA, UQCC2, HIVEP2, FOPX1, KANSL1, and AUH. Furthermore, HIVEP2, FOXP1, and KANSL1 were nominally associated with autism spectrum disorder (ASD) (18,382 cases and 27,969 controls), as well as HIVEP2 with anxiety (7016 cases and 14,475 controls), and FOXP1 with aggression (18,988 individuals), which is in line with the symptomatology of the rare disorders they are responsible for. In conclusion, inspecting Mendelian disorders and the genes responsible for them constitutes a valuable approach for identifying new risk genes and the mechanisms of complex disorders

Published
2021

90. Author Correction: Risk variants and polygenic architecture of disruptive behavior disorders in the context of attention-deficit/hyperactivity disorder

Author

Demontis, Ditte; https://orcid.org/0000-0001-9124-2766, Walters, Raymond K; https://orcid.org/0000-0001-8422-6530, Rajagopal, Veera M; https://orcid.org/0000-0002-5236-168X, Waldman, Irwin D; https://orcid.org/0000-0002-6862-1837, Grove, Jakob; https://orcid.org/0000-0003-2284-5744, Als, Thomas D; https://orcid.org/0000-0002-2963-1928, Dalsgaard, Søren; https://orcid.org/0000-0003-4659-0969, Ribasés, Marta; https://orcid.org/0000-0003-1039-1116, Bybjerg-Grauholm, Jonas; https://orcid.org/0000-0003-1705-4008, Bækvad-Hansen, Maria, Werge, Thomas; https://orcid.org/0000-0003-1829-0766, Nordentoft, Merete, Mors, Ole, Mortensen, Preben Bo, Cormand, Bru, Hougaard, David M; https://orcid.org/0000-0001-5928-3517, Neale, Benjamin M; https://orcid.org/0000-0003-1513-6077, Franke, Barbara; https://orcid.org/0000-0003-4375-6572, Faraone, Stephen V, Børglum, Anders D; https://orcid.org/0000-0001-8627-7219, et al, Steinhausen, Hans-Christoph; https://orcid.org/0000-0002-6400-4436, Demontis, Ditte; https://orcid.org/0000-0001-9124-2766, Walters, Raymond K; https://orcid.org/0000-0001-8422-6530, Rajagopal, Veera M; https://orcid.org/0000-0002-5236-168X, Waldman, Irwin D; https://orcid.org/0000-0002-6862-1837, Grove, Jakob; https://orcid.org/0000-0003-2284-5744, Als, Thomas D; https://orcid.org/0000-0002-2963-1928, Dalsgaard, Søren; https://orcid.org/0000-0003-4659-0969, Ribasés, Marta; https://orcid.org/0000-0003-1039-1116, Bybjerg-Grauholm, Jonas; https://orcid.org/0000-0003-1705-4008, Bækvad-Hansen, Maria, Werge, Thomas; https://orcid.org/0000-0003-1829-0766, Nordentoft, Merete, Mors, Ole, Mortensen, Preben Bo, Cormand, Bru, Hougaard, David M; https://orcid.org/0000-0001-5928-3517, Neale, Benjamin M; https://orcid.org/0000-0003-1513-6077, Franke, Barbara; https://orcid.org/0000-0003-4375-6572, Faraone, Stephen V, Børglum, Anders D; https://orcid.org/0000-0001-8627-7219, et al, and Steinhausen, Hans-Christoph; https://orcid.org/0000-0002-6400-4436

Published
2021

91. Risk variants and polygenic architecture of disruptive behavior disorders in the context of attention-deficit/hyperactivity disorder

Author

Demontis, Ditte; https://orcid.org/0000-0001-9124-2766, Walters, Raymond K; https://orcid.org/0000-0001-8422-6530, Rajagopal, Veera M; https://orcid.org/0000-0002-5236-168X, Waldman, Irwin D; https://orcid.org/0000-0002-6862-1837, Grove, Jakob; https://orcid.org/0000-0003-2284-5744, Als, Thomas D; https://orcid.org/0000-0002-2963-1928, Dalsgaard, Søren; https://orcid.org/0000-0003-4659-0969, Ribasas, Marta; https://orcid.org/0000-0003-1039-1116, Bybjerg-Grauholm, Jonas; https://orcid.org/0000-0003-1705-4008, Bækvad-Hansen, Maria, Werge, Thomas; https://orcid.org/0000-0003-1829-0766, Nordentoft, Merete, Mors, Ole, Mortensen, Preben Bo, Cormand, Bru, Hougaard, David M; https://orcid.org/0000-0001-5928-3517, Neale, Benjamin M; https://orcid.org/0000-0003-1513-6077, Franke, Barbara; https://orcid.org/0000-0003-4375-6572, Faraone, Stephen V, Børglum, Anders D; https://orcid.org/0000-0001-8627-7219, et al, Steinhausen, Hans-Christoph; https://orcid.org/0000-0002-6400-4436, Demontis, Ditte; https://orcid.org/0000-0001-9124-2766, Walters, Raymond K; https://orcid.org/0000-0001-8422-6530, Rajagopal, Veera M; https://orcid.org/0000-0002-5236-168X, Waldman, Irwin D; https://orcid.org/0000-0002-6862-1837, Grove, Jakob; https://orcid.org/0000-0003-2284-5744, Als, Thomas D; https://orcid.org/0000-0002-2963-1928, Dalsgaard, Søren; https://orcid.org/0000-0003-4659-0969, Ribasas, Marta; https://orcid.org/0000-0003-1039-1116, Bybjerg-Grauholm, Jonas; https://orcid.org/0000-0003-1705-4008, Bækvad-Hansen, Maria, Werge, Thomas; https://orcid.org/0000-0003-1829-0766, Nordentoft, Merete, Mors, Ole, Mortensen, Preben Bo, Cormand, Bru, Hougaard, David M; https://orcid.org/0000-0001-5928-3517, Neale, Benjamin M; https://orcid.org/0000-0003-1513-6077, Franke, Barbara; https://orcid.org/0000-0003-4375-6572, Faraone, Stephen V, Børglum, Anders D; https://orcid.org/0000-0001-8627-7219, et al, and Steinhausen, Hans-Christoph; https://orcid.org/0000-0002-6400-4436

Abstract

Attention-Deficit/Hyperactivity Disorder (ADHD) is a childhood psychiatric disorder often comorbid with disruptive behavior disorders (DBDs). Here, we report a GWAS meta-analysis of ADHD comorbid with DBDs (ADHD + DBDs) including 3802 cases and 31,305 controls. We identify three genome-wide significant loci on chromosomes 1, 7, and 11. A meta-analysis including a Chinese cohort supports that the locus on chromosome 11 is a strong risk locus for ADHD + DBDs across European and Chinese ancestries (rs7118422, P = 3.15×10-10, OR = 1.17). We find a higher SNP heritability for ADHD + DBDs (h2SNP = 0.34) when compared to ADHD without DBDs (h2SNP = 0.20), high genetic correlations between ADHD + DBDs and aggressive (rg = 0.81) and anti-social behaviors (rg = 0.82), and an increased burden (polygenic score) of variants associated with ADHD and aggression in ADHD + DBDs compared to ADHD without DBDs. Our results suggest an increased load of common risk variants in ADHD + DBDs compared to ADHD without DBDs, which in part can be explained by variants associated with aggressive behavior.

Published
2021

96. Corrigendum to “Evaluation of previous substance dependence genome-wide significant findings in a Spanish sample” [Drug Alcohol Depend. 187 (2018) 358–362]

Author

Pineda-Cirera, Laura, Cabana-Domínguez, Judit, Roncero, Carlos, Cozar, Mònica, Grau-López, Lara, Abad, Alfonso C., Martínez-Luna, Nieves, Robles-Martínez, María, Sánchez-Mora, Cristina, Ramos-Quiroga, Josep Antoni, Casas, Miquel, Ribasés, Marta, Fernàndez-Castillo, Noèlia, and Cormand, Bru

Published
2020
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97. Identification of shared and differentiating genetic risk for autism spectrum disorder, attention deficit hyperactivity disorder and case subgroups

Author

Mattheisen, Manuel, primary, Grove, Jakob, additional, Als, Thomas D, additional, Martin, Joanna, additional, Voloudakis, Georgios, additional, Meier, Sandra, additional, Demontis, Ditte, additional, Bendl, Jaroslav, additional, Walters, Raymond, additional, Carey, Caitlin E, additional, Rosengren, Anders, additional, Strom, Nora, additional, Hauberg, Mads Engel, additional, Zeng, Biao, additional, Hoffman, Gabriel, additional, Bybjerg-Grauholm, Jonas, additional, Bækvad-Hansen, Marie, additional, Agerbo, Esben, additional, Cormand, Bru, additional, Nordentoft, Merete, additional, Werge, Thomas, additional, Mors, Ole, additional, Hougaard, David M, additional, Buxbaum, Joseph D, additional, Faraone, Stephen V, additional, Franke, Barbara, additional, Dalsgaard, Søren, additional, Mortensen, Preben B, additional, Robinson, Elise B, additional, Roussos, Panos, additional, Neale, Benjamin M, additional, Daly, Mark J, additional, and Børglum, Anders D, additional

Published
2021
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99. Genetic identification of cell types underlying brain complex traits yields insights into the etiology of Parkinson’s disease

Author

Bryois, Julien, Skene, Nathan G., Hansen, Thomas Folkmann, Kogelman, Lisette J.A., Watson, Hunna J., Liu, Zijing, Adan, Roger, Alfredsson, Lars, Ando, Tetsuya, Andreassen, Ole, Baker, Jessica, Bergen, Andrew, Berrettini, Wade, Birgegård, Andreas, Boden, Joseph, Boehm, Ilka, Boni, Claudette, Boraska Perica, Vesna, Brandt, Harry, Breen, Gerome, Buehren, Katharina, Bulik, Cynthia, Burghardt, Roland, Cassina, Matteo, Cichon, Sven, Clementi, Maurizio, Coleman, Jonathan, Cone, Roger, Courtet, Philippe, Crawford, Steven, Crow, Scott, Crowley, James, Danner, Unna, Davis, Oliver, de Zwaan, Martina, Dedoussis, George, Degortes, Daniela, DeSocio, Janiece, Dick, Danielle, Dikeos, Dimitris, Dina, Christian, Dmitrzak-Weglarz, Monika, Docampo Martinez, Elisa, Duncan, Laramie, Egberts, Karin, Ehrlich, Stefan, Escaramís, Geòrgia, Esko, Tõnu, Estivill, Xavier, Farmer, Anne, Favaro, Angela, Fernández-Aranda, Fernando, Fichter, Manfred, Fischer, Krista, Föcker, Manuel, Foretova, Lenka, Forstner, Andreas, Forzan, Monica, Franklin, Christopher, Gallinger, Steven, Gaspar, Héléna, Giegling, Ina, Giuranna, Johanna, Giusti-Rodríquez, Paola, Gonidakis, Fragiskos, Gordon, Scott, Gorwood, Philip, Gratacos Mayora, Monica, Grove, Jakob, Guillaume, Sébastien, Guo, Yiran, Hakonarson, Hakon, Halmi, Katherine, Hanscombe, Ken, Hatzikotoulas, Konstantinos, Hauser, Joanna, Hebebrand, Johannes, Helder, Sietske, Henders, Anjali, Herms, Stefan, Herpertz-Dahlmann, Beate, Herzog, Wolfgang, Hinney, Anke, Horwood, L. John, Hübel, Christopher, Huckins, Laura, Hudson, James, Imgart, Hartmut, Inoko, Hidetoshi, Janout, Vladimir, Jiménez-Murcia, Susana, Johnson, Craig, Jordan, Jennifer, Julià, Antonio, Juréus, Anders, Kalsi, Gursharan, Kaminská, Deborah, Kaplan, Allan, Kaprio, Jaakko, Karhunen, Leila, Karwautz, Andreas, Kas, Martien, Kaye, Walter, Kennedy, James, Kennedy, Martin, Keski-Rahkonen, Anna, Kiezebrink, Kirsty, Kim, Youl Ri, Kirk, Katherine, Klareskog, Lars, Klump, Kelly, Knudsen, Gun Peggy, La Via, Maria, Landén, Mikael, Larsen, Janne, Le Hellard, Stephanie, Leppä, Virpi, Levitan, Robert, Li, Dong, Lichtenstein, Paul, Lilenfeld, Lisa, Lin, Bochao Danae, Lissowska, Jolanta, Luykx, Jurjen, Magistretti, Pierre, Maj, Mario, Mannik, Katrin, Marsal, Sara, Marshall, Christian, Martin, Nicholas, Mattheisen, Manuel, Mattingsdal, Morten, McDevitt, Sara, McGuffin, Peter, Medland, Sarah, Metspalu, Andres, Meulenbelt, Ingrid, Micali, Nadia, Mitchell, James, Mitchell, Karen, Monteleone, Palmiero, Monteleone, Alessio Maria, Montgomery, Grant, Mortensen, Preben Bo, Munn-Chernoff, Melissa, Nacmias, Benedetta, Navratilova, Marie, Norring, Claes, Ntalla, Ioanna, Olsen, Catherine, Ophoff, Roel, O’Toole, Julie, Padyukov, Leonid, Palotie, Aarno, Pantel, Jacques, Papezova, Hana, Parker, Richard, Pearson, John, Pedersen, Nancy, Petersen, Liselotte, Pinto, Dalila, Purves, Kirstin, Rabionet, Raquel, Raevuori, Anu, Ramoz, Nicolas, Reichborn-Kjennerud, Ted, Ricca, Valdo, Ripatti, Samuli, Ripke, Stephan, Ritschel, Franziska, Roberts, Marion, Rotondo, Alessandro, Rujescu, Dan, Rybakowski, Filip, Santonastaso, Paolo, Scherag, André, Scherer, Stephen, Schmidt, Ulrike, Schork, Nicholas, Schosser, Alexandra, Seitz, Jochen, Slachtova, Lenka, Slagboom, P. Eline, Slof-Op ‘t Landt, Margarita, Slopien, Agnieszka, Sorbi, Sandro, Strober, Michael, Stuber, Garret, Sullivan, Patrick, Świątkowska, Beata, Szatkiewicz, Jin, Tachmazidou, Ioanna, Tenconi, Elena, Thornton, Laura, Tortorella, Alfonso, Tozzi, Federica, Treasure, Janet, Tsitsika, Artemis, Tyszkiewicz-Nwafor, Marta, Tziouvas, Konstantinos, van Elburg, Annemarie, van Furth, Eric, Wade, Tracey, Wagner, Gudrun, Walton, Esther, Watson, Hunna, Werge, Thomas, Whiteman, David, Widen, Elisabeth, Woodside, D. Blake, Yao, Shuyang, Yilmaz, Zeynep, Zeggini, Eleftheria, Zerwas, Stephanie, Zipfel, Stephan, Anttila, Verneri, Artto, Ville, Belin, Andrea Carmine, de Boer, Irene, Boomsma, Dorret I., Børte, Sigrid, Chasman, Daniel I., Cherkas, Lynn, Christensen, Anne Francke, Cormand, Bru, Cuenca-Leon, Ester, Davey-Smith, George, Dichgans, Martin, van Duijn, Cornelia, Esko, Tonu, Esserlind, Ann Louise, Ferrari, Michel, Frants, Rune R., Freilinger, Tobias, Furlotte, Nick, Gormley, Padhraig, Griffiths, Lyn, Hamalainen, Eija, Hiekkala, Marjo, Ikram, M. Arfan, Ingason, Andres, Järvelin, Marjo Riitta, Kajanne, Risto, Maagdenberg, Arn van den, Nyholt, Dale R., Zhao, Huiying, Bell, Robert, Wilson, Catherine, other, and, Bryois, Julien, Skene, Nathan G., Hansen, Thomas Folkmann, Kogelman, Lisette J.A., Watson, Hunna J., Liu, Zijing, Adan, Roger, Alfredsson, Lars, Ando, Tetsuya, Andreassen, Ole, Baker, Jessica, Bergen, Andrew, Berrettini, Wade, Birgegård, Andreas, Boden, Joseph, Boehm, Ilka, Boni, Claudette, Boraska Perica, Vesna, Brandt, Harry, Breen, Gerome, Buehren, Katharina, Bulik, Cynthia, Burghardt, Roland, Cassina, Matteo, Cichon, Sven, Clementi, Maurizio, Coleman, Jonathan, Cone, Roger, Courtet, Philippe, Crawford, Steven, Crow, Scott, Crowley, James, Danner, Unna, Davis, Oliver, de Zwaan, Martina, Dedoussis, George, Degortes, Daniela, DeSocio, Janiece, Dick, Danielle, Dikeos, Dimitris, Dina, Christian, Dmitrzak-Weglarz, Monika, Docampo Martinez, Elisa, Duncan, Laramie, Egberts, Karin, Ehrlich, Stefan, Escaramís, Geòrgia, Esko, Tõnu, Estivill, Xavier, Farmer, Anne, Favaro, Angela, Fernández-Aranda, Fernando, Fichter, Manfred, Fischer, Krista, Föcker, Manuel, Foretova, Lenka, Forstner, Andreas, Forzan, Monica, Franklin, Christopher, Gallinger, Steven, Gaspar, Héléna, Giegling, Ina, Giuranna, Johanna, Giusti-Rodríquez, Paola, Gonidakis, Fragiskos, Gordon, Scott, Gorwood, Philip, Gratacos Mayora, Monica, Grove, Jakob, Guillaume, Sébastien, Guo, Yiran, Hakonarson, Hakon, Halmi, Katherine, Hanscombe, Ken, Hatzikotoulas, Konstantinos, Hauser, Joanna, Hebebrand, Johannes, Helder, Sietske, Henders, Anjali, Herms, Stefan, Herpertz-Dahlmann, Beate, Herzog, Wolfgang, Hinney, Anke, Horwood, L. John, Hübel, Christopher, Huckins, Laura, Hudson, James, Imgart, Hartmut, Inoko, Hidetoshi, Janout, Vladimir, Jiménez-Murcia, Susana, Johnson, Craig, Jordan, Jennifer, Julià, Antonio, Juréus, Anders, Kalsi, Gursharan, Kaminská, Deborah, Kaplan, Allan, Kaprio, Jaakko, Karhunen, Leila, Karwautz, Andreas, Kas, Martien, Kaye, Walter, Kennedy, James, Kennedy, Martin, Keski-Rahkonen, Anna, Kiezebrink, Kirsty, Kim, Youl Ri, Kirk, Katherine, Klareskog, Lars, Klump, Kelly, Knudsen, Gun Peggy, La Via, Maria, Landén, Mikael, Larsen, Janne, Le Hellard, Stephanie, Leppä, Virpi, Levitan, Robert, Li, Dong, Lichtenstein, Paul, Lilenfeld, Lisa, Lin, Bochao Danae, Lissowska, Jolanta, Luykx, Jurjen, Magistretti, Pierre, Maj, Mario, Mannik, Katrin, Marsal, Sara, Marshall, Christian, Martin, Nicholas, Mattheisen, Manuel, Mattingsdal, Morten, McDevitt, Sara, McGuffin, Peter, Medland, Sarah, Metspalu, Andres, Meulenbelt, Ingrid, Micali, Nadia, Mitchell, James, Mitchell, Karen, Monteleone, Palmiero, Monteleone, Alessio Maria, Montgomery, Grant, Mortensen, Preben Bo, Munn-Chernoff, Melissa, Nacmias, Benedetta, Navratilova, Marie, Norring, Claes, Ntalla, Ioanna, Olsen, Catherine, Ophoff, Roel, O’Toole, Julie, Padyukov, Leonid, Palotie, Aarno, Pantel, Jacques, Papezova, Hana, Parker, Richard, Pearson, John, Pedersen, Nancy, Petersen, Liselotte, Pinto, Dalila, Purves, Kirstin, Rabionet, Raquel, Raevuori, Anu, Ramoz, Nicolas, Reichborn-Kjennerud, Ted, Ricca, Valdo, Ripatti, Samuli, Ripke, Stephan, Ritschel, Franziska, Roberts, Marion, Rotondo, Alessandro, Rujescu, Dan, Rybakowski, Filip, Santonastaso, Paolo, Scherag, André, Scherer, Stephen, Schmidt, Ulrike, Schork, Nicholas, Schosser, Alexandra, Seitz, Jochen, Slachtova, Lenka, Slagboom, P. Eline, Slof-Op ‘t Landt, Margarita, Slopien, Agnieszka, Sorbi, Sandro, Strober, Michael, Stuber, Garret, Sullivan, Patrick, Świątkowska, Beata, Szatkiewicz, Jin, Tachmazidou, Ioanna, Tenconi, Elena, Thornton, Laura, Tortorella, Alfonso, Tozzi, Federica, Treasure, Janet, Tsitsika, Artemis, Tyszkiewicz-Nwafor, Marta, Tziouvas, Konstantinos, van Elburg, Annemarie, van Furth, Eric, Wade, Tracey, Wagner, Gudrun, Walton, Esther, Watson, Hunna, Werge, Thomas, Whiteman, David, Widen, Elisabeth, Woodside, D. Blake, Yao, Shuyang, Yilmaz, Zeynep, Zeggini, Eleftheria, Zerwas, Stephanie, Zipfel, Stephan, Anttila, Verneri, Artto, Ville, Belin, Andrea Carmine, de Boer, Irene, Boomsma, Dorret I., Børte, Sigrid, Chasman, Daniel I., Cherkas, Lynn, Christensen, Anne Francke, Cormand, Bru, Cuenca-Leon, Ester, Davey-Smith, George, Dichgans, Martin, van Duijn, Cornelia, Esko, Tonu, Esserlind, Ann Louise, Ferrari, Michel, Frants, Rune R., Freilinger, Tobias, Furlotte, Nick, Gormley, Padhraig, Griffiths, Lyn, Hamalainen, Eija, Hiekkala, Marjo, Ikram, M. Arfan, Ingason, Andres, Järvelin, Marjo Riitta, Kajanne, Risto, Maagdenberg, Arn van den, Nyholt, Dale R., Zhao, Huiying, Bell, Robert, Wilson, Catherine, and other, and

Abstract

Genome-wide association studies have discovered hundreds of loci associated with complex brain disorders, but it remains unclear in which cell types these loci are active. Here we integrate genome-wide association study results with single-cell transcriptomic data from the entire mouse nervous system to systematically identify cell types underlying brain complex traits. We show that psychiatric disorders are predominantly associated with projecting excitatory and inhibitory neurons. Neurological diseases were associated with different cell types, which is consistent with other lines of evidence. Notably, Parkinson’s disease was genetically associated not only with cholinergic and monoaminergic neurons (which include dopaminergic neurons) but also with enteric neurons and oligodendrocytes. Using post-mortem brain transcriptomic data, we confirmed alterations in these cells, even at the earliest stages of disease progression. Our study provides an important framework for understanding the cellular basis of complex brain maladies, and reveals an unexpected role of oligodendrocytes in Parkinson’s disease.

Published
2020

100. Variants of the aggression-related RBFOX1 gene in a population representative birth cohort study: aggressiveness, personality, and alcohol use disorder

Author

Vaht, Mariliis, Laas, Kariina, Fernàndez-Castillo, Noèlia, Kurrikoff, Triin, Kanarik, Margus, Faraone, Stephen V., Tooding, Liina-Mai, Veidebaum, Toomas, Franke, Barbara, Reif, Andreas, Cormand, Bru, Harro, Jaanus, Vaht, Mariliis, Laas, Kariina, Fernàndez-Castillo, Noèlia, Kurrikoff, Triin, Kanarik, Margus, Faraone, Stephen V., Tooding, Liina-Mai, Veidebaum, Toomas, Franke, Barbara, Reif, Andreas, Cormand, Bru, and Harro, Jaanus

Abstract

Background: Recently, RBFOX1, a gene encoding an RNA binding protein, has consistently been associated with aggressive and antisocial behavior. Several loci in the gene have been nominally associated with aggression in genome-wide association studies, the risk alleles being more frequent in the general population. We have hence examined the association of four RBFOX1 single nucleotide polymorphisms, previously found related to aggressive traits, with aggressiveness, personality, and alcohol use disorder in birth cohort representative samples. Methods: We used both birth cohorts of the Estonian Children Personality Behavior and Health Study (ECPBHS; original n = 1,238). Aggressiveness was assessed using the Buss–Perry Aggression Questionnaire and the Lifetime History of Aggressiveness structured interview at age 25 (younger cohort) or 33 (older cohort). Big Five personality at age 25 was measured with self-reports and the lifetime occurrence of alcohol use disorder assessed with the MINI interview. RBFOX1 polymorphisms rs809682, rs8062784, rs12921846, and rs6500744 were genotyped in all participants. Given the restricted size of the sample, correction for multiple comparisons was not applied. Results: Aggressiveness was not significantly associated with the RBFOX1 genotype. RBFOX1 rs8062784 was associated with neuroticism and rs809682 with extraversion. Two out of four analyzed RBFOX1 variants, rs8062784 and rs12921846, were associated with the occurrence of alcohol use disorder. Conclusions: In the birth cohort representative sample of the ECPBHS, no association of RBFOX1 with aggressiveness was found, but RBFOX1 variants affected basic personality traits and the prevalence of alcohol use disorder. Future studies on RBFOX1 should consider the moderating role of personality and alcohol use patterns in aggressiveness.

Published
2020

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