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269 results on '"Poelmans, Geert"'

2. Genome-Wide Association Study Points to Novel Locus for Gilles de la Tourette Syndrome

Author

Barr, Cathy L., Batterson, James R., Berlin, Cheston, Budman, Cathy L., Coppola, Giovanni, Cox, Nancy J., Darrow, Sabrina, Dion, Yves, Freimer, Nelson B., Grados, Marco A., Greenberg, Erica, Hirschtritt, Matthew E., Huang, Alden Y., Illmann, Cornelia, King, Robert A., Kurlan, Roger, Leckman, James F., Lyon, Gholson J., Malaty, Irene A., McMahon, William M., Neale, Benjamin M., Okun, Michael S., Osiecki, Lisa, Robertson, Mary M., Rouleau, Guy A., Sandor, Paul, Singer, Harvey S., Smit, Jan H., Sul, Jae Hoon, Androutsos, Christos, Basha, Entela, Farkas, Luca, Fichna, Jakub, Janik, Piotr, Kapisyzi, Mira, Karagiannidis, Iordanis, Koumoula, Anastasia, Nagy, Peter, Puchala, Joanna, Szejko, Natalia, Szymanska, Urszula, Tsironi, Vaia, Apter, Alan, Ball, Juliane, Bodmer, Benjamin, Bognar, Emese, Buse, Judith, Vela, Marta Correa, Fremer, Carolin, Garcia-Delgar, Blanca, Gulisano, Mariangela, Hagen, Annelieke, Hagstrøm, Julie, Madruga-Garrido, Marcos, Pellico, Alessandra, Ruhrman, Daphna, Schnell, Jaana, Silvestri, Paola Rosaria, Skov, Liselotte, Steinberg, Tamar, Gloor, Friederike Tagwerker, Turner, Victoria L., Weidinger, Elif, Alexander, John, Aranyi, Tamas, Buisman, Wim R., Buitelaar, Jan K., Driessen, Nicole, Drineas, Petros, Fan, Siyan, Forde, Natalie J., Gerasch, Sarah, van den Heuvel, Odile A., Jespersgaard, Cathrine, Kanaan, Ahmad S., Möller, Harald E., Nawaz, Muhammad S., Nespoli, Ester, Pagliaroli, Luca, Poelmans, Geert, Pouwels, Petra J.W., Rizzo, Francesca, Veltman, Dick J., van der Werf, Ysbrand D., Widomska, Joanna, Zilhäo, Nuno R., Brown, Lawrence W., Cheon, Keun-Ah, Coffey, Barbara J., Fernandez, Thomas V., Gilbert, Donald L., Hong, Hyun Ju, Ibanez-Gomez, Laura, Kim, Eun-Joo, Kim, Young Key, Kim, Young-Shin, Koh, Yun-Joo, Kook, Sodahm, Kuperman, Samuel, Leventhal, Bennett L., Maras, Athanasios, Murphy, Tara L., Shin, Eun-Young, Song, Dong-Ho, Song, Jungeun, State, Matthew W., Visscher, Frank, Wang, Sheng, Zinner, Samuel H., Tsetsos, Fotis, Topaloudi, Apostolia, Jain, Pritesh, Yang, Zhiyu, Yu, Dongmei, Kolovos, Petros, Tumer, Zeynep, Rizzo, Renata, Hartmann, Andreas, Depienne, Christel, Worbe, Yulia, Müller-Vahl, Kirsten R., Cath, Danielle C., Boomsma, Dorret I., Wolanczyk, Tomasz, Zekanowski, Cezary, Barta, Csaba, Nemoda, Zsofia, Tarnok, Zsanett, Padmanabhuni, Shanmukha S., Buxbaum, Joseph D., Grice, Dorothy, Glennon, Jeffrey, Stefansson, Hreinn, Hengerer, Bastian, Yannaki, Evangelia, Stamatoyannopoulos, John A., Benaroya-Milshtein, Noa, Cardona, Francesco, Hedderly, Tammy, Heyman, Isobel, Huyser, Chaim, Mir, Pablo, Morer, Astrid, Mueller, Norbert, Munchau, Alexander, Plessen, Kerstin J., Porcelli, Cesare, Roessner, Veit, Walitza, Susanne, Schrag, Anette, Martino, Davide, Tischfield, Jay A., Heiman, Gary A., Willsey, A. Jeremy, Dietrich, Andrea, Davis, Lea K., Crowley, James J., Mathews, Carol A., Scharf, Jeremiah M., Georgitsi, Marianthi, Hoekstra, Pieter J., and Paschou, Peristera

Published
2024
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3. Excitatory/inhibitory imbalance in autism: the role of glutamate and GABA gene-sets in symptoms and cortical brain structure

Author

Hollestein, Viola, Poelmans, Geert, Forde, Natalie J., Beckmann, Christian F., Ecker, Christine, Mann, Caroline, Schäfer, Tim, Moessnang, Carolin, Baumeister, Sarah, Banaschewski, Tobias, Bourgeron, Thomas, Loth, Eva, Dell’Acqua, Flavio, Murphy, Declan G. M., Puts, Nicolaas A., Tillmann, Julian, Charman, Tony, Jones, Emily J. H., Mason, Luke, Ambrosino, Sara, Holt, Rosemary, Bölte, Sven, Buitelaar, Jan K., and Naaijen, Jilly

Published
2023
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4. Potential Role for Immune-Related Genes in Autism Spectrum Disorders: Evidence from Genome-Wide Association Meta-Analysis of Autistic Traits

Author

Arenella, Martina, Cadby, Gemma, De Witte, Ward, Jones, Rachel M., Whitehouse, Andrew J. O., Moses, Eric K., Fornito, Alex, Bellgrove, Mark A., Hawi, Ziarih, Johnson, Beth, Tiego, Jeggan, Buitelaar, Jan K., Kiemeney, Lambertus A., Poelmans, Geert, and Bralten, Janita

Abstract

The clinical heterogeneity of autism spectrum disorders majorly challenges their genetic study. Autism spectrum disorders symptoms occur in milder forms in the general population, as autistic-like traits, and share genetic factors with autism spectrum disorders. Here, we investigate the genetics of individual autistic-like traits to improve our understanding of autism spectrum disorders. We meta-analysed four population-based genome-wide association studies investigating four autistic-like traits -- 'attention-to-detail', 'imagination', 'rigidity' and 'social-skills' (n = 4600). Using autism spectrum disorder summary statistics from the Psychiatric Genomic Consortium (N = 46,350), we applied polygenic risk score analyses to understand the genetic relationship between autism spectrum disorders and autistic-like traits. Using MAGMA, we performed gene-based and gene co-expression network analyses to delineate involved genes and pathways. We identified two novel genome-wide significant loci -- rs6125844 and rs3731197 -- associated with 'attention-to-detail'. We demonstrated shared genetic aetiology between autism spectrum disorders and 'rigidity'. Analysing top variants and genes, we demonstrated a role of the immune-related genes "RNF114," "CDKN2A," "KAZN," "SPATA2" and "ZNF816A" in autistic-like traits. Brain-based genetic expression analyses further linked autistic-like traits to genes involved in immune functioning, and neuronal and synaptic signalling. Overall, our findings highlight the potential of the autistic-like trait-based approach to address the challenges of genetic research in autism spectrum disorders. We provide novel insights showing a potential role of the immune system in specific autism spectrum disorder dimensions.

Published
2022
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5. Genome-wide association study of pediatric obsessive-compulsive traits: shared genetic risk between traits and disorder.

Author

Burton, Christie L, Lemire, Mathieu, Xiao, Bowei, Corfield, Elizabeth C, Erdman, Lauren, Bralten, Janita, Poelmans, Geert, Yu, Dongmei, Shaheen, S-M, Goodale, Tara, Sinopoli, Vanessa M, OCD Working Group of the Psychiatric Genomics Consortium, Soreni, Noam, Hanna, Gregory L, Fitzgerald, Kate D, Rosenberg, David, Nestadt, Gerald, Paterson, Andrew D, Strug, Lisa J, Schachar, Russell J, Crosbie, Jennifer, and Arnold, Paul D

Subjects
OCD Working Group of the Psychiatric Genomics Consortium, Clinical Sciences, Public Health and Health Services, Psychology
Abstract

Using a novel trait-based measure, we examined genetic variants associated with obsessive-compulsive (OC) traits and tested whether OC traits and obsessive-compulsive disorder (OCD) shared genetic risk. We conducted a genome-wide association analysis (GWAS) of OC traits using the Toronto Obsessive-Compulsive Scale (TOCS) in 5018 unrelated Caucasian children and adolescents from the community (Spit for Science sample). We tested the hypothesis that genetic variants associated with OC traits from the community would be associated with clinical OCD using a meta-analysis of all currently available OCD cases. Shared genetic risk was examined between OC traits and OCD in the respective samples using polygenic risk score and genetic correlation analyses. A locus tagged by rs7856850 in an intron of PTPRD (protein tyrosine phosphatase δ) was significantly associated with OC traits at the genome-wide significance level (p = 2.48 × 10-8). rs7856850 was also associated with OCD in a meta-analysis of OCD case/control genome-wide datasets (p = 0.0069). The direction of effect was the same as in the community sample. Polygenic risk scores from OC traits were significantly associated with OCD in case/control datasets and vice versa (p's

Published
2021

6. The link between cognition and somatic conditions related to insulin resistance in the UK Biobank study cohort: a systematic review

Author

Fanelli, Giuseppe, Mota, Nina Roth, Salas-Salvadó, Jordi, Bulló, Mònica, Fernandez-Aranda, Fernando, Camacho-Barcia, Lucía, Testa, Giulia, Jiménez-Murcia, Susana, Bertaina-Anglade, Valérie, Franke, Barbara, Poelmans, Geert, van Gils, Veerle, Jansen, Willemijn J., Vos, Stephanie J.B., Wimberley, Theresa, Dalsgaard, Søren, Barta, Csaba, Serretti, Alessandro, Fabbri, Chiara, and Bralten, Janita

Published
2022
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7. Temporally ordered associations between type 2 diabetes and brain disorders – a Danish register-based cohort study

Author

Wimberley, Theresa, Horsdal, Henriette T., Brikell, Isabell, Laursen, Thomas M., Astrup, Aske, Fanelli, Giuseppe, Bralten, Janita, Poelmans, Geert, Gils, Veerle Van, Jansen, Willemijn J., Vos, Stephanie J. B., Bertaina-Anglade, Valérie, Camacho-Barcia, Lucia, Mora-Maltas, Bernat, Fernandez-Aranda, Fernando, Bonet, Mònica B., Salas-Salvadó, Jordi, Franke, Barbara, and Dalsgaard, Søren

Published
2022
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10. Local patterns of genetic sharing challenge the boundaries between neuropsychiatric and insulin resistance-related conditions

Author

Fanelli, Giuseppe, primary, Franke, Barbara, additional, Fabbri, Chiara, additional, Werme, Josefin, additional, Erdogan, Izel, additional, Witte, Ward De, additional, Poelmans, Geert, additional, Hyun Ruisch, I., additional, Reus, Lianne Maria, additional, van Gils, Veerle, additional, Jansen, Willemijn J., additional, Vos, Stephanie J.B., additional, Alam, Kazi Asraful, additional, Martinez, Aurora, additional, Haavik, Jan, additional, Wimberley, Theresa, additional, Dalsgaard, Søren, additional, Fóthi, Ábel, additional, Barta, Csaba, additional, Fernandez-Aranda, Fernando, additional, Jimenez-Murcia, Susana, additional, Berkel, Simone, additional, Matura, Silke, additional, Salas-Salvadó, Jordi, additional, Arenella, Martina, additional, Serretti, Alessandro, additional, Mota, Nina Roth, additional, and Bralten, Janita, additional

Published
2024
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11. Genetic underpinnings of sociability in the general population

Author

Bralten, Janita, Mota, Nina R., Klemann, Cornelius J. H. M., De Witte, Ward, Laing, Emma, Collier, David A., de Kluiver, Hilde, Bauduin, Stephanie E. E. C., Arango, Celso, Ayuso-Mateos, Jose L., Fabbri, Chiara, Kas, Martien J., van der Wee, Nic, Penninx, Brenda W. J. H., Serretti, Alessandro, Franke, Barbara, and Poelmans, Geert

Published
2021
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12. Structural and functional MRI of altered brain development in a novel adolescent rat model of quinpirole-induced compulsive checking behavior

Author

Buitelaar, Jan, de Ruiter, Saskia, Naaijen, Jilly, Akkermans, Sophie, Mennes, Maarten, Zwiers, Marcel, Ilbegi, Shahrzad, Hennissen, Leonie, Glennon, Jeffrey, van de Vondervoort, Ilse, Kapusta, Katarzyna, Bielczyk, NaAAtalia, Amiri, Houshang, Havenith, Martha, Franke, Barbara, Poelmans, Geert, Bralten, Janita, Heskes, Tom, Sokolova, Elena, Groot, Perry, Williams, Steven, Murphy, DeAAclan, Lythgoe, David, Bruchhage, Muriel, Dud, Iulia, Voinescu, Bogdan, Dittmann, Ralf, Banaschewski, Tobias, Brandeis, Daniel, Mechler, Konstantin, Berg, Ruth, Wolf, Isabella, Häge, Alexander, Landauer, Michael, Hohmann, Sarah, Schlier, Regina Boecker, Ruff, Matthias, Mandl, René, Dijkhuizen, Rick, Blezer, Erwin, Straathof, Milou, van der Marel, Kajo, Pullens, Pim, Mol, Wouter, van der Toorn, Annette, Otte, Willem, van Heijningen, Caroline, Durston, Sarah, Mensen, VinAAcent, Oranje, Bob, Joel, Daphna, Cryan, John, Petryshen, Tracey, Pauls, David, Saito, Mai, Heckman, Angelique, Bahn, Sabine, Schwalber, Ameli, Florea, Ioana, Blezer, Erwin L.A., Smeele, Christel E., Buitelaar, Jan K., Glennon, Jeffrey C., Otte, Willem M., and Dijkhuizen, Rick M.

Published
2020
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15. Identification of ADHD risk genes in extended pedigrees by combining linkage analysis and whole-exome sequencing

Author

Corominas, Jordi, Klein, Marieke, Zayats, Tetyana, Rivero, Olga, Ziegler, Georg C., Pauper, Marc, Neveling, Kornelia, Poelmans, Geert, Jansch, Charline, Svirin, Evgeniy, Geissler, Julia, Weber, Heike, Reif, Andreas, Arias Vasquez, Alejandro, Galesloot, Tessel E., Kiemeney, Lambertus A. L. M., Buitelaar, Jan K., Ramos-Quiroga, Josep-Antoni, Cormand, Bru, Ribasés, Marta, Hveem, Kristian, Gabrielsen, Maiken Elvestad, Hoffmann, Per, Cichon, Sven, Haavik, Jan, Johansson, Stefan, Jacob, Christian P., Romanos, Marcel, Franke, Barbara, and Lesch, Klaus-Peter

Published
2020
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18. Cognitive behavioural therapy with optional graded exercise therapy in patients with severe fatigue with myotonic dystrophy type 1: a multicentre, single-blind, randomised trial

Author

Kierkegaard, Marie, Okkersen, Kees, Jimenez-Moreno, Cecilia, Wenninger, Stephan, Daidj, Ferroudja, Glennon, Jeffrey, Cumming, Sarah, Littleford, Roberta, Monckton, Darren, Lochmüller, Hanns, Catt, Michael, Faber, Catharina, Hapca, Adrian, Donnan, Peter, Gorman, Gráinne, Bassez, Guillaume, Schoser, Benedikt, Knoop, Hans, Treweek, Shaun, van Engelen, Baziel, Maas, Daphne, Nikolaus, Stephanie, Cornelissen, Yvonne, van Nimwegen, Marlies, Klerks, Ellen, Bouman, Sacha, Heskamp, Linda, Heerschap, Arend, Rahmadi, Ridho, Groot, Perry, Heskes, Tom, Kapusta, Katarzyna, Abghari, Shaghayegh, Aschrafi, Armaz, Poelmans, Geert, Raaphorst, Joost, Trenell, Michael, van Laar, Sandra, Wood, Libby, Cassidy, Sophie, Newman, Jane, Charman, Sarah, Steffaneti, Renae, Taylor, Louise, Brownrigg, Allan, Day, Sharon, Atalaya, Antonio, Hogarth, Fiona, Schüller, Angela, Stahl, Kristina, Künzel, Heike, Wolf, Martin, Jelinek, Anna, Lignier, Baptiste, Couppey, Florence, Delmas, Stéphanie, Deux, Jean-François, Hankiewicz, Karolina, Dogan, Celine, Minier, Lisa, Chevalier, Pascale, Hamadouche, Amira, Adam, Berit, Hannah, Michael, McKenzie, Emma, Rauchhaus, Petra, Van Hees, Vincent, Catt, Sharon, Schwalber, Ameli, Merkies, Ingemar, Dittrich, Juliane, Monckton, Darren G, Faber, Catharina G, Donnan, Peter T, and van Engelen, Baziel G M

Published
2018
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21. A Molecular Landscape of Stress Urinary Incontinence in Women Suggests an Important Role of Beta-Catenin Signaling in Disease Etiology

Author

Post, Wilke M., primary, Widomska, Joanna, additional, Oosterwijk, Egbert, additional, De Witte, Ward, additional, Coenen, Marieke J. H., additional, Janssen, Dick A. W., additional, Martens, Frank, additional, Cartwright, Rufus, additional, Minassian, Vatche A., additional, Penney, Kathryn L., additional, Thomas, Laurent F., additional, Skogholt, Anne H., additional, Stafne, Signe N., additional, Hveem, Kristian, additional, Kluivers, Kirsten B., additional, and Poelmans, Geert, additional

Published
2023
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23. Molecular Landscape of Pelvic Organ Prolapse Provides Insights into Disease Etiology

Author

Kluivers, Kirsten B., primary, Lince, Sabrina L., additional, Ruiz-Zapata, Alejandra M., additional, Post, Wilke M., additional, Cartwright, Rufus, additional, Kerkhof, Manon H., additional, Widomska, Joanna, additional, De Witte, Ward, additional, Pecanka, Jakub, additional, Kiemeney, Lambertus A., additional, Vermeulen, Sita H., additional, Goeman, Jelle J., additional, Allen-Brady, Kristina, additional, Oosterwijk, Egbert, additional, and Poelmans, Geert, additional

Published
2023
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24. Genome-wide Association Study Points to Novel Locus for Gilles de la Tourette Syndrome

Author

Tsetsos, Fotis, primary, Topaloudi, Apostolia, additional, Jain, Pritesh, additional, Yang, Zhiyu, additional, Yu, Dongmei, additional, Kolovos, Petros, additional, Tumer, Zeynep, additional, Rizzo, Renata, additional, Hartmann, Andreas, additional, Depienne, Christel, additional, Worbe, Yulia, additional, Müller-Vahl, Kirsten R., additional, Cath, Danielle C., additional, Boomsma, Dorret I., additional, Wolanczyk, Tomasz, additional, Zekanowski, Cezary, additional, Barta, Csaba, additional, Nemoda, Zsofia, additional, Tarnok, Zsanett, additional, Padmanabhuni, Shanmukha S., additional, Buxbaum, Joseph D., additional, Grice, Dorothy, additional, Glennon, Jeffrey, additional, Stefansson, Hreinn, additional, Hengerer, Bastian, additional, Yannaki, Evangelia, additional, Stamatoyannopoulos, John A., additional, Benaroya-Milshtein, Noa, additional, Cardona, Francesco, additional, Hedderly, Tammy, additional, Heyman, Isobel, additional, Huyser, Chaim, additional, Mir, Pablo, additional, Morer, Astrid, additional, Mueller, Norbert, additional, Munchau, Alexander, additional, Plessen, Kerstin J., additional, Porcelli, Cesare, additional, Roessner, Veit, additional, Walitza, Susanne, additional, Schrag, Anette, additional, Martino, Davide, additional, Tischfield, Jay A., additional, Heiman, Gary A., additional, Willsey, A. Jeremy, additional, Dietrich, Andrea, additional, Davis, Lea K., additional, Crowley, James J., additional, Mathews, Carol A., additional, Scharf, Jeremiah M., additional, Georgitsi, Marianthi, additional, Hoekstra, Pieter J., additional, Paschou, Peristera, additional, Barr, Cathy L., additional, Batterson, James R., additional, Berlin, Cheston, additional, Budman, Cathy L., additional, Coppola, Giovanni, additional, Cox, Nancy J., additional, Darrow, Sabrina, additional, Dion, Yves, additional, Freimer, Nelson B., additional, Grados, Marco A., additional, Greenberg, Erica, additional, Hirschtritt, Matthew E., additional, Huang, Alden Y., additional, Illmann, Cornelia, additional, King, Robert A., additional, Kurlan, Roger, additional, Leckman, James F., additional, Lyon, Gholson J., additional, Malaty, Irene A., additional, McMahon, William M., additional, Neale, Benjamin M., additional, Okun, Michael S., additional, Osiecki, Lisa, additional, Robertson, Mary M., additional, Rouleau, Guy A., additional, Sandor, Paul, additional, Singer, Harvey S., additional, Smit, Jan H., additional, Sul, Jae Hoon, additional, Androutsos, Christos, additional, Basha, Entela, additional, Farkas, Luca, additional, Fichna, Jakub, additional, Janik, Piotr, additional, Kapisyzi, Mira, additional, Karagiannidis, Iordanis, additional, Koumoula, Anastasia, additional, Nagy, Peter, additional, Puchala, Joanna, additional, Szejko, Natalia, additional, Szymanska, Urszula, additional, Tsironi, Vaia, additional, Apter, Alan, additional, Ball, Juliane, additional, Bodmer, Benjamin, additional, Bognar, Emese, additional, Buse, Judith, additional, Vela, Marta Correa, additional, Fremer, Carolin, additional, Garcia-Delgar, Blanca, additional, Gulisano, Mariangela, additional, Hagen, Annelieke, additional, Hagstrøm, Julie, additional, Madruga-Garrido, Marcos, additional, Pellico, Alessandra, additional, Ruhrman, Daphna, additional, Schnell, Jaana, additional, Silvestri, Paola Rosaria, additional, Skov, Liselotte, additional, Steinberg, Tamar, additional, Gloor, Friederike Tagwerker, additional, Turner, Victoria L., additional, Weidinger, Elif, additional, Alexander, John, additional, Aranyi, Tamas, additional, Buisman, Wim R., additional, Buitelaar, Jan K., additional, Driessen, Nicole, additional, Drineas, Petros, additional, Fan, Siyan, additional, Forde, Natalie J., additional, Gerasch, Sarah, additional, van den Heuvel, Odile A., additional, Jespersgaard, Cathrine, additional, Kanaan, Ahmad S., additional, Möller, Harald E., additional, Nawaz, Muhammad S., additional, Nespoli, Ester, additional, Pagliaroli, Luca, additional, Poelmans, Geert, additional, Pouwels, Petra J.W., additional, Rizzo, Francesca, additional, Veltman, Dick J., additional, van der Werf, Ysbrand D., additional, Widomska, Joanna, additional, Zilhäo, Nuno R., additional, Brown, Lawrence W., additional, Cheon, Keun-Ah, additional, Coffey, Barbara J., additional, Fernandez, Thomas V., additional, Gilbert, Donald L., additional, Hong, Hyun Ju, additional, Ibanez-Gomez, Laura, additional, Kim, Eun-Joo, additional, Kim, Young Key, additional, Kim, Young-Shin, additional, Koh, Yun-Joo, additional, Kook, Sodahm, additional, Kuperman, Samuel, additional, Leventhal, Bennett L., additional, Maras, Athanasios, additional, Murphy, Tara L., additional, Shin, Eun-Young, additional, Song, Dong-Ho, additional, Song, Jungeun, additional, State, Matthew W., additional, Visscher, Frank, additional, Wang, Sheng, additional, and Zinner, Samuel H., additional

Published
2023
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26. Polygenic risk score-based phenome-wide association study identifies novel associations for Tourette syndrome

Author

Jain, Pritesh, Miller-Fleming, Tyne, Topaloudi, Apostolia, Yu, Dongmei, Drineas, Petros, Georgitsi, Marianthi, Yang, Zhiyu, Rizzo, Renata, Müller-Vahl, Kirsten R., Tumer, Zeynep, Mol Debes, Nanette, Hartmann, Andreas, Depienne, Christel, Worbe, Yulia, Mir, Pablo, Cath, Danielle C., Boomsma, Dorret I., Roessner, Veit, Wolanczyk, Tomasz, Janik, Piotr, Szejko, Natalia, Zekanowski, Cezary, Barta, Csaba, Nemoda, Zsofia, Tarnok, Zsanett, Buxbaum, Joseph D., Grice, Dorothy, Glennon, Jeffrey, Stefansson, Hreinn, Hengerer, Bastian, Benaroya-Milshtein, Noa, Cardona, Francesco, Hedderly, Tammy, Heyman, Isobel, Huyser, Chaim, Morer, Astrid, Mueller, Norbert, Munchau, Alexander, Plessen, Kerstin J., Porcelli, Cesare, Walitza, Susanne, Schrag, Anette, Martino, Davide, Dietrich, Andrea, Mathews, Carol A., Scharf, Jeremiah M., Hoekstra, Pieter J., Davis, Lea K., Paschou, Peristera, Als, Thomas D., Aschauer, Harald, Atzmon, Gil, Bækvad-Hansen, Matie, Barr, Cathy L., Barzilai, Nir, Batterson, James R., Batterson, Robert, Benarroch, Fortu, Berlin, Cheston, Boberg, Julia, Bodmer, Benjamin, Bohnenpoll, Julia, Børglum, Anders D., Brown, Lawrence W., Bruun, Ruth, Budman, Cathy L., Buckner, Randy L., Bybjerg-Grauholm, Jonas, Cheon, Keun-Ah, Chouinard, Sylvain, Coffey, Barbara J., Coppola, Giovanni, Crowley, James J., Dahl, Niklas, Darrow, Sabrina M., Daly, Mark J., De Rubeis, Silvia, Dion, Yves, Djurfeldt, Diana R., Domenech-Salgado, Laura, Eapen, Valsamma, Elzerman, Lonneke, Fernandez, Thomas V., Freimer Carolin Fremer, Nelson B., Garcia-Delgar, Blanca, Garrido, Marcos, Gilbert, Donald L., Giusti-Rodriguez, Paola, Grados, Marco, Greenberg, Erica, Grove, Jakob, Hagstrom, Julie, Halvorsen, Matt, Hansen, Bjarne, Haavik, Jan, Hebebrand, Johannes, Heiman, Gary A., Herrera, Luis, Hinney, Anke, Hirschtritt, Matthew E., Sul, Jae Hoon, Hong, Hyun Ju, Hougaard, David M., Huang, Alden Y., Ibanez-Gomez, Laura, Ivankovic, Franjo, Jankovic, Joseph, Karlsson, Elinor K., Kaprio, Jakko A., Kim, Young Key, Kim, Young-Shin, King, Robert A., Knowles, James A., Koh, Yun-Joo, Kook, Sodham, Khalifa, Najah, Konstantinidis, Anastasios, Kuperman, Samuel, Kurlan, Roger, Kvale, Gerd, Leckman, James, Lee, Paul C., Leventhal, Bennett, Lichtenstein, Paul, Lindbald-Toh, Kerstin, Lowe, Thomas, Ludolph, Andrea, da Silva, Claudia Luhrs, Luðvigsson, Pétur, Luykx, Jurjen, Lyon, Gholson J., Mahjani, Behrang, Maras, Athanasios, Mataix-Cols, David, Mattheisen, Manuel, Malaty, Irene A., McMahon, William M., McQuillin, Andrew, Meier, Sandra M., Moessner, Rainald, Mortensen, Preben B., Mors, Ole, Mudgal, Poorva, Nagy, Peter, Naarden, Allan, Neale, Benjamin M., Nawaz, Muhammad S., Nissen, Judith Becker, Nöthen Merete Nordentoft, Markus M., Nordsletten, Ashley E., Okun, Michael S., Ophoff, Roel, Osiecki, Lisa, Palotie, Aarno, Palviainen, Teemu P., Pato Michele T. Pato, Carlos N., Pittenger, Christopher, Pollak, Yehuda, Posthuma, Danielle, Ramos, Eliana, Reichert, Jennifer, Robertson, Mary M., Roffman, Joshua L., Rouleau, Guy, Rück, Christian, Sæmundsen, Evald, Samuels, Jack, Sandin, Sven, Sandor, Paul, Schlögelhofer, Monika, Shin, Eun-Young, Singer, Harvey S., Smit, Jan, Smoller, Jordan W., State, Matthew, Solem, Stian, Song, Dong-Ho, Song, Jungeun, Stamenkovic, Mara, Stefansson, Kári, Strom, Nora, Stuhrmann, Manfred, Szatkiewicz, Jin, Szymanska, Urszula, Tischfield, Jay A., Tsetsos, Fotis, Thorarensen, Ólafur, Tubing, Jennifer, Visscher, Frank, Wagner, Michael, Wanderer, Sina, Wang, Sheng, Werge, Thomas, Willsey, Jeremy A., Wolancyk, Tomasz, Woods, Douglas W., Woods, Martin, Zelaya, Ivette, Zinner, Samuel H., Apter, Alan, Ball, Juliane, Bognar, Emese, Buse, Judith, Vela, Marta Correa, Fremer, Carolin, Gulisano, Mariangela, Hagen, Annelieke, Hagstrøm, Julie, Madruga-Garrido, Marcos, Pellico, Alessandra, Ruhrman, Daphna, Schnell, Jaana, Silvestri, Paola Rosaria, Skov, Liselotte, Steinberg, Tamar, Gloor, Friederike Tagwerker, Turner, Victoria L., Weidinger, Elif, Alexander, John, Aranyi, Tamas, Buisman, Wim R., Buitelaar, Jan K., Driessen, Nicole, Fan, Siyan, Forde, Natalie J., Gerasch, Sarah, van den Heuvel, Odile A., Jespersgaard, Cathrine, Kanaan, Ahmad S., Möller, Harald E., Nespoli, Ester, Pagliaroli, Luca, Poelmans, Geert, Pouwels, Petra J. W., Rizzo, Francesca, Veltman, Dick J., van der Werf, Ysbrand D., Widomska, Joanna, Zilhäo, Nuno R., Biological Psychology, Amsterdam Reproduction & Development, APH - Mental Health, APH - Methodology, Complex Trait Genetics, Amsterdam Neuroscience - Complex Trait Genetics, Dynamic Earth and Resources, and Clinical Cognitive Neuropsychiatry Research Program (CCNP)

Subjects
Male, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Medizin, Autism Spectrum Disorder/genetics, Cellular and Molecular Neuroscience, Psychiatry and Mental health, Diabetes Mellitus, Type 2, Risk Factors, Diabetes Mellitus, Tourette Syndrome/genetics, Humans, Female, Attention Deficit Disorder with Hyperactivity/genetics, Type 2, Biological Psychiatry
Abstract

Tourette Syndrome (TS) is a complex neurodevelopmental disorder characterized by vocal and motor tics lasting more than a year. It is highly polygenic in nature with both rare and common previously associated variants. Epidemiological studies have shown TS to be correlated with other phenotypes, but large-scale phenome wide analyses in biobank level data have not been performed to date. In this study, we used the summary statistics from the latest meta-analysis of TS to calculate the polygenic risk score (PRS) of individuals in the UK Biobank data and applied a Phenome Wide Association Study (PheWAS) approach to determine the association of disease risk with a wide range of phenotypes. A total of 57 traits were found to be significantly associated with TS polygenic risk, including multiple psychosocial factors and mental health conditions such as anxiety disorder and depression. Additional associations were observed with complex non-psychiatric disorders such as Type 2 diabetes, heart palpitations, and respiratory conditions. Cross-disorder comparisons of phenotypic associations with genetic risk for other childhood-onset disorders (e.g.: attention deficit hyperactivity disorder [ADHD], autism spectrum disorder [ASD], and obsessive-compulsive disorder [OCD]) indicated an overlap in associations between TS and these disorders. ADHD and ASD had a similar direction of effect with TS while OCD had an opposite direction of effect for all traits except mental health factors. Sex-specific PheWAS analysis identified differences in the associations with TS genetic risk between males and females. Type 2 diabetes and heart palpitations were significantly associated with TS risk in males but not in females, whereas diseases of the respiratory system were associated with TS risk in females but not in males. This analysis provides further evidence of shared genetic and phenotypic architecture of different complex disorders. Tourette Syndrome (TS) is a complex neurodevelopmental disorder characterized by vocal and motor tics lasting more than a year. It is highly polygenic in nature with both rare and common previously associated variants. Epidemiological studies have shown TS to be correlated with other phenotypes, but large-scale phenome wide analyses in biobank level data have not been performed to date. In this study, we used the summary statistics from the latest meta-analysis of TS to calculate the polygenic risk score (PRS) of individuals in the UK Biobank data and applied a Phenome Wide Association Study (PheWAS) approach to determine the association of disease risk with a wide range of phenotypes. A total of 57 traits were found to be significantly associated with TS polygenic risk, including multiple psychosocial factors and mental health conditions such as anxiety disorder and depression. Additional associations were observed with complex non-psychiatric disorders such as Type 2 diabetes, heart palpitations, and respiratory conditions. Cross-disorder comparisons of phenotypic associations with genetic risk for other childhood-onset disorders (e.g.: attention deficit hyperactivity disorder [ADHD], autism spectrum disorder [ASD], and obsessive-compulsive disorder [OCD]) indicated an overlap in associations between TS and these disorders. ADHD and ASD had a similar direction of effect with TS while OCD had an opposite direction of effect for all traits except mental health factors. Sex-specific PheWAS analysis identified differences in the associations with TS genetic risk between males and females. Type 2 diabetes and heart palpitations were significantly associated with TS risk in males but not in females, whereas diseases of the respiratory system were associated with TS risk in females but not in males. This analysis provides further evidence of shared genetic and phenotypic architecture of different complex disorders.

Published
2023

30. Whole Exome Sequencing in Multi-Incident Families Identifies Novel Candidate Genes for Multiple Sclerosis

Author

Horjus, Julia, primary, van Mourik-Banda, Tineke, additional, Heerings, Marco A. P., additional, Hakobjan, Marina, additional, De Witte, Ward, additional, Heersema, Dorothea J., additional, Jansen, Anne J., additional, Strijbis, Eva M. M., additional, de Jong, Brigit A., additional, Slettenaar, Astrid E. J., additional, Zeinstra, Esther M. P. E., additional, Hoogervorst, Erwin L. J., additional, Franke, Barbara, additional, Kruijer, Wiebe, additional, Jongen, Peter J., additional, Visser, Leo J., additional, and Poelmans, Geert, additional

Published
2022
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34. An integrated molecular landscape implicates the regulation of dendritic spine formation through insulin-related signalling in obsessive-compulsive disorder

Author

van de Vondervoort, Ilse, Poelmans, Geert, Aschrafi, Armaz, Pauls, David L., Buitelaar, Jan K., Glennon, Jeffrey C., and Franke, Barbara

Subjects
Obsessive-compulsive disorder -- Physiological aspects, Insulin -- Health aspects, Dendritic cells -- Health aspects, Cellular signal transduction -- Observations, Health, Psychology and mental health
Abstract

Background: Obsessive-compulsive disorder (OCD) is a neuropsychiatric disorder with onset in childhood and is characterized by obsessions (recurrent, intrusive, persistent thoughts, impulses and/or ideas that often cause anxiety or distress) and compulsions (ritualized and stereotypic behaviours or mental acts that are often performed to relieve anxiety or distress associated with obsessions). Although OCD is a heritable disorder, its complex molecular etiology is poorly understood. Methods: We combined enrichment analyses and an elaborate literature review of the top-ranked genes emerging from the 2 published genome-wide association studies of OCD and candidate genes implicated through other evidence in order to identify biological processes that, when dysregulated, increase the risk for OCD. Results: The resulting molecular protein landscape was enriched for proteins involved in regulating postsynaptic dendritic spine formation-- and hence synaptic plasticity--through insulin-dependent molecular signalling cascades. Limitations: This study is a first attempt to integrate molecuar information from different sources in order to identify biological mechanisms underlying OCD etiology. Our findings are constrained by the limited information from hypothesis-free studies and the incompleteness and existing limitations of the OCD literature and the gene function annotations of gene enrichment tools. As this study was solely based on in silico analyses, experimental validation of the provided hypotheses is warranted. Conclusion: Our work suggests a key role for insulin and insulin-related signalling in OCD etiology and--if confirmed by independent studies--could eventually pave the way for the development of novel OCD treatments., Introduction Obsessive-compulsive disorder (OCD) is a neuropsychiatric disorder that affects an estimated 2.5% of the world's population (1,2) and is characterized by obsessive and/or compulsive behaviours. (3) Obsessive behaviours include [...]

Published
2016
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37. Additional file 1 of Temporally ordered associations between type 2 diabetes and brain disorders – a Danish register-based cohort study

Author

Wimberley, Theresa, Horsdal, Henriette T., Brikell, Isabell, Laursen, Thomas M., Astrup, Aske, Fanelli, Giuseppe, Bralten, Janita, Poelmans, Geert, Gils, Veerle Van, Jansen, Willemijn J., Vos, Stephanie J. B., Bertaina-Anglade, Valérie, Camacho-Barcia, Lucia, Mora-Maltas, Bernat, Fernandez-Aranda, Fernando, Bonet, Mònica B., Salas-Salvadó, Jordi, Franke, Barbara, and Dalsgaard, Søren

Abstract

Additional file 1: Supplementary Table 1. Diagnostic classifications for definition of type 2 diabetes and selected brain disorders. Supplementary Table 2. Crude and adjusted estimates based on logistic regression analyses and temporally ordered Cox regression analyses. Supplementary Table 3. Temporally ordered analyses of sex-specific associations between diagnoses of brain disorders and type 2 diabetes. Supplementary Table 4. Adjusted estimates based on logistic regression analyses and temporally ordered Cox regression analyses without and with adjustment for highest attained level of education. Supplementary Table 5. Adjusted estimates based on logistic regression analysis applying the main and two alternative register-based T2DM definitions.

Published
2022
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40. Excitatory/inhibitory imbalance in autism: the role of glutamate and GABA gene-sets in symptoms and cortical brain structure

Author

Hollestein, Viola, primary, Poelmans, Geert, additional, Forde, Natalie J, additional, Beckmann, Christian F, additional, Ecker, Christine, additional, Mann, Caroline, additional, Schaefer, Tim, additional, Moessnang, Carolin, additional, Baumeister, Sarah, additional, Banaschewski, Tobias, additional, Bourgeron, Thomas, additional, Loth, Eva, additional, Dell’Acqua, Flavio, additional, Murphy, Declan GM, additional, Tillmann, Julian, additional, Charman, Tony, additional, Jones, Emily J.H., additional, Mason, Luke, additional, Ambrosino, Sara, additional, Holt, Rosemary, additional, Bölte, Sven, additional, Buitelaar, Jan K, additional, and Naaijen, Jilly, additional

Published
2021
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41. Transdiagnostic Perspective of Impulsivity and Compulsivity in Obesity: From Cognitive Profile to Self-Reported Dimensions in Clinical Samples with and without Diabetes

Author

Testa, Giulia, primary, Mora-Maltas, Bernat, additional, Camacho-Barcia, Lucía, additional, Granero, Roser, additional, Lucas, Ignacio, additional, Agüera, Zaida, additional, Jiménez-Murcia, Susana, additional, Baños, Rosa, additional, Bertaina-Anglade, Valerie, additional, Botella, Cristina, additional, Bulló, Mònica, additional, Casanueva, Felipe F., additional, Dalsgaard, Søren, additional, Fernández-Real, José-Manuel, additional, Franke, Barbara, additional, Frühbeck, Gema, additional, Fitó, Montserrat, additional, Gómez-Martínez, Carlos, additional, Pintó, Xavier, additional, Poelmans, Geert, additional, Tinahones, Francisco J., additional, de la Torre, Rafael, additional, Salas-Salvadó, Jordi, additional, Serra-Majem, Lluis, additional, Vos, Stephanie, additional, Wimberley, Theresa, additional, and Fernández-Aranda, Fernando, additional

Published
2021
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43. TH59. INSULINOPATHIES OF THE BRAIN? GENETIC OVERLAP BETWEEN SOMATIC INSULIN-RELATED AND NEUROPSYCHIATRIC DISORDERS

Author

Fanelli, Giuseppe, primary, Franke, Barbara, additional, De Witte, Ward, additional, Ruisch, Hyun, additional, Haavik, Jan, additional, van Gils, Veerle, additional, Jansen, Willemijn J., additional, Vos, Stephanie J.B., additional, Buitelaar, Jan, additional, Banaschewski, Tobias, additional, Dalsgaard, Søren, additional, Serretti, Alessandro, additional, Mota, Nina Roth, additional, Poelmans, Geert, additional, and Bralten, Janita, additional

Published
2021
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44. MicroRNA-137 regulates a glucocorticoid receptor-dependent signalling network: implications for the etiology of schizophrenia

Author

Valles, Astrid, Martens, Gerard J.M., De Weerd, Peter, Poelmans, Geert, and Aschrafi, Armaz

Subjects
Corticosteroids -- Health aspects, RNA sequencing -- Research, Genetic research, Schizophrenia -- Genetic aspects, MicroRNA -- Health aspects, Neurological research, Health, Psychology and mental health
Abstract

Background: Schizophrenia is a highly heritable neurodevelopmental disorder. A genetic variant of microRNA-137 (miR137) has yielded significant genome-wide association with schizophrenia, suggesting that this miRNA plays a key role in its etiology. Therefore, a molecular network of interacting miR-137 targets may provide insights into the biological processes underlying schizophrenia. Methods: We first used bioinformatics tools to obtain and analyze predicted human and mouse miR-137 targets. We then determined miR-137 levels in rat barrel cortex after environmental enrichment (EE), a neuronal plasticity model that induces upregulation of several predicted miR-137 targets. Subsequently, expression changes of these predicted targets were examined through loss of miR-137 function experiments in rat cortical neurons. Finally, we conducted bioinformatics and literature analyses to examine the targets that were upregulated upon miR-137 downregulation. Results: Predicted human and mouse miR-137 targets were enriched in neuronal processes, such as axon guidance, neuritogenesis and neurotransmission. The miR-137 levels were significantly downregulated after EE, and we identified 5 novel miR-137 targets through loss of miR-137 function experiments. These targets fit into a glucocorticoid receptor-dependent signalling network that also includes 3 known miR-137 targets with genome-wide significant association with schizophrenia. Limitations: The bioinformatics analyses involved predicted human and mouse miR137 targets owing to lack of information on predicted rat miR-137 targets, whereas follow-up experiments were performed with rats. Furthermore, indirect effects in the loss of miR-137 function experiments cannot be excluded. Conclusion: We have identified a miR-137-regulated protein network that contributes to our understanding of the molecular basis of schizophrenia and provides clues for future research into psychopharmacological treatments for schizophrenia., Introduction Schizophrenia is a serious psychiatric condition with a lifetime prevalence of approximately 1%. (1) Although its etiology is still largely unknown, schizophrenia is thought to result from a complex [...]

Published
2014
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45. Genome-Wide Association Study Identifies Two Novel Loci Associated with Female Stress and Urgency Urinary Incontinence

Author

Cartwright, Rufus, primary, Franklin, Larissa, additional, Tikkinen, Kari A. O., additional, Kalliala, Ilkka, additional, Miotla, Pawel, additional, Rechberger, Tomasz, additional, Offiah, Ifeoma, additional, McMahon, Steve, additional, O’Reilly, Barry, additional, Lince, Sabrina, additional, Kluivers, Kirsten, additional, Post, Wilke M., additional, Poelmans, Geert, additional, Palmer, Melody R., additional, Wessells, Hunter, additional, Wong, Andrew, additional, Kuh, Diana, additional, Kivimaki, Mika, additional, Kumari, Meena, additional, Mangino, Massimo, additional, Spector, Tim, additional, Guggenheim, Jeremy A., additional, Lehne, Benjamin, additional, De Silva, N. Maneka G., additional, Evans, David M., additional, Lawlor, Debbie, additional, Karhunen, Ville, additional, Männikkö, Minna, additional, Marczak, Malgorzata, additional, Bennett, Phillip R., additional, Khullar, Vik, additional, Järvelin, Marjo-Riitta, additional, and Walley, Andrew, additional

Published
2021
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46. Potential role for immune-related genes in autism spectrum disorders: Evidence from genome-wide association meta-analysis of autistic traits

Author

Arenella, Martina, primary, Cadby, Gemma, additional, De Witte, Ward, additional, Jones, Rachel M, additional, Whitehouse, Andrew JO, additional, Moses, Eric K, additional, Fornito, Alex, additional, Bellgrove, Mark A, additional, Hawi, Ziarih, additional, Johnson, Beth, additional, Tiego, Jeggan, additional, Buitelaar, Jan K, additional, Kiemeney, Lambertus A, additional, Poelmans, Geert, additional, and Bralten, Janita, additional

Published
2021
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47. MSH3 modifies somatic instability and disease severity in Huntington’s and myotonic dystrophy type 1

Author

Flower, Michael, Lomeilkaite, Vilila, Ciosi, Marc, Cumming, Sarah, Morales, Fernando, Lo, Kitty, Hensman Moss, Davina, Jones, Lesley, Holmans, Peter, Monckton, Darren G., Tabrizi, Sarah J., Kraus, Peter, Hoffman, Rainer, Tobin, Alan, Borowsky, Beth, Keenan, S., Whitlock, Kathryn B., Queller, Sarah, Campbell, Colin, Wang, Chiachi, Langbehn, Doug, Axelson, Eric, Johnson, Hans, Acharya, Tanka, Cash, Dave M., Frost, Chris, Jones, Rebecca, Jurgens, Caroline, ‘t Hart, Ellen P., van der Grond, Jeroen, Witjes- Ane, Marie-Noelle N., Roos, Raymund A. C., Dumas, Eve M., van den Bogaard, Simon J. A., Stopford, Cheryl, Craufurd, David, Callaghan, Jenny, Arran, Natalie, Rosas, Diana D., Lee, S., Monaco, W., O’Regan, Alison, Milchman, Cassie, Frajman, E., Labuschagne, Izelle, Stout, Julie, Campbell, Melissa, Andrews, Sophie C., Bechtel, Natalie, Reilmann, Ralf, Bohlen, Stefan, Kennard, Chris, Berna, Claire, Hicks, Stephen, Durr, Alexandra, Pourchot, C., Bardinet, Eric, Nigaud, Kevin, Valabre`gue, Romain, Lehericy, Stephane, Marelli, Cecilia, Jauffret, Celine, Justo, Damian, Leavitt, Blair, Decolongon, Joji, Sturrock, Aaron, Coleman, Alison, Dar Santos, Rachelle, Patel, A., Gibbard, Claire, Whitehead, Daisy, Wild, Ed, Owen, Gail, Crawford, Helen, Malone, Ian, Lahiri, Nayana, Fox, Nick C., Hobbs, Nicola Z., Scahill, Rachael I., Ordidge, Roger, Pepple, Tracey, Read, Joy, Say, Miranda J., Landwehrmeyer, Bernhard, Daidj, Ferroudja, Bassez, Guillaume, Lignier, Baptiste, Couppey, Florence, Delmas, Stéphanie, Deux, Jean-François, Hankiewicz, Karolina, Dogan, Celine, Minier, Lisa, Chevalier, Pascale, Hamadouche, Amira, Catt, Michael, van Hees, Vincent, Catt, Sharon, Schwalber, Ameli, Dittrich, Juliane, Kierkegaard, Marie, Wenninger, Stephan, Schoser, Benedikt, Schüller, Angela, Stahl, Kristina, Künzel, Heike, Wolff, Martin, Jellinek, Anna, Moreno, Cecilia Jimenez, Gorman, Grainne, Lochmüller, Hanns, Trenell, Michael, van Laar, Sandra, Wood, Libby, Cassidy, Sophie, Newman, Jane, Charman, Sarah, Steffaneti, Renae, Taylor, Louise, Brownrigg, Allan, Day, Sharon, Atalaia, Antonio, Raaphorst, Joost, Okkersen, Kees, Engelen, Baziel van, Nikolaus, Stephanie, Cornelissen, Yvonne, van Nimwegen, Marlies, Maas, Daphne, Klerks, Ellen, Bouman, Sacha, Knoop, Hans, Heskamp, Linda, Heerschap, Arend, Rahmadi, Ridho, Groot, Perry, Heskes, Tom, Kapusta, Katarzyna, Glennon, Jeffrey, Abghari, Shaghayegh, Aschrafi, Armaz, Poelmans, Geert, Treweek, Shaun, Hogarth, Fiona, Littleford, Roberta, Donnan, Peter, Hapca, Adrian, Hannah, Michael, McKenzie, Emma, Rauchhaus, Petra, Cumming, Sarah A., Adam, Berit, Faber, Catharina, Merkies, Ingemar, TRACK-HD Investigators, OPTIMISTIC Consortium, Neurology, ANS - Neurodegeneration, APH - Mental Health, and Medical Psychology

Subjects
0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Single-nucleotide polymorphism, Biology, association study, Myotonic dystrophy, transcriptomics, 03 medical and health sciences, Exon, 0302 clinical medicine, Huntington's disease, mental disorders, medicine, Allele, Genetics, myotonic dystrophy, medicine.disease, nervous system diseases, Minor allele frequency, 030104 developmental biology, MSH3, movement disorders, Neurology (clinical), Trinucleotide repeat expansion, 030217 neurology & neurosurgery, Reports, Huntington’s disease
Abstract

A genome-wide association study recently identified an MSH3/DHFR locus associated with Huntington’s disease progression. Flower, Lomeikaite et al. identify tandem repeat variants at this locus, and show that a three-repeat allele is associated with reduced somatic expansion, delayed onset and slower progression in Huntington’s disease and myotonic dystrophy type 1., The mismatch repair gene MSH3 has been implicated as a genetic modifier of the CAG·CTG repeat expansion disorders Huntington’s disease and myotonic dystrophy type 1. A recent Huntington’s disease genome-wide association study found rs557874766, an imputed single nucleotide polymorphism located within a polymorphic 9 bp tandem repeat in MSH3/DHFR, as the variant most significantly associated with progression in Huntington’s disease. Using Illumina sequencing in Huntington’s disease and myotonic dystrophy type 1 subjects, we show that rs557874766 is an alignment artefact, the minor allele for which corresponds to a three-repeat allele in MSH3 exon 1 that is associated with a reduced rate of somatic CAG·CTG expansion (P = 0.004) and delayed disease onset (P = 0.003) in both Huntington’s disease and myotonic dystrophy type 1, and slower progression (P = 3.86 × 10−7) in Huntington’s disease. RNA-Seq of whole blood in the Huntington’s disease subjects found that repeat variants are associated with MSH3 and DHFR expression. A transcriptome-wide association study in the Huntington’s disease cohort found increased MSH3 and DHFR expression are associated with disease progression. These results suggest that variation in the MSH3 exon 1 repeat region influences somatic expansion and disease phenotype in Huntington’s disease and myotonic dystrophy type 1, and suggests a common DNA repair mechanism operates in both repeat expansion diseases.

Published
2019

48. sj-pdf-1-aut-10.1177_13623613211019547 – Supplemental material for Potential role for immune-related genes in autism spectrum disorders: Evidence from genome-wide association meta-analysis of autistic traits

Author

Arenella, Martina, Cadby, Gemma, De Witte, Ward, Jones, Rachel M, Whitehouse, Andrew JO, Moses, Eric K, Fornito, Alex, Bellgrove, Mark A, Hawi, Ziarih, Johnson, Beth, Tiego, Jeggan, Buitelaar, Jan K, Kiemeney, Lambertus A, Poelmans, Geert, and Bralten, Janita

Subjects
FOS: Psychology, FOS: Clinical medicine, 170199 Psychology not elsewhere classified, 111799 Public Health and Health Services not elsewhere classified, FOS: Educational sciences, 110319 Psychiatry (incl. Psychotherapy), FOS: Health sciences, 130312 Special Education and Disability, Education
Abstract

Supplemental material, sj-pdf-1-aut-10.1177_13623613211019547 for Potential role for immune-related genes in autism spectrum disorders: Evidence from genome-wide association meta-analysis of autistic traits by Martina Arenella, Gemma Cadby, Ward De Witte, Rachel M Jones, Andrew JO Whitehouse, Eric K Moses, Alex Fornito, Mark A Bellgrove, Ziarih Hawi, Beth Johnson, Jeggan Tiego, Jan K Buitelaar, Lambertus A Kiemeney, Geert Poelmans and Janita Bralten in Autism

Published
2021
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49. Genome-wide association study of pediatric obsessive-compulsive traits: shared genetic risk between traits and disorder

Author

Burton, Christie L., Lemire, Mathieu, Xiao, Bowei, Corfield, Elizabeth C., Erdman, Lauren, Bralten, Janita, Poelmans, Geert, Yu, Dongmei, Shaheen, S. M., Goodale, Tara, Sinopoli, Vanessa M., Askland, Kathleen D., Barlassina, Cristina, Bienvenu, O. Joseph, Black, Donald, Bloch, Michael, Brentani, Helena, Camarena, Beatriz, Cappi, Carolina, Cath, Danielle, Cavallini, M. Cristina, Ciullo, Valentina, Conti, David, Cook, Edwin H., Coric, Vladimir, Cullen, Bernadette A., Cusi, Danielle, Davis, Lea K., Delorme, Richard, Denys, Damiaan, Derks, Eske, Eapen, Valsamma, Edlund, Christopher, Falkai, Peter, Fyer, Abby J., Geller, Daniel A., Goes, Fernando S., Grabe, Hans J., Grados, Marco A., Greenberg, Benjamin D., Grünblatt, Edna, Guo, Wei, Hounie, Ana G., Jenike, Michael, Keenan, Clare L., Kennedy, James L., Khramtsova, Ekaterina A., Knowles, James A., Krasnow, Janice, Vulink, Nienke, Psychiatry, APH - Methodology, APH - Mental Health, Amsterdam Neuroscience - Mood, Anxiety, Psychosis, Stress & Sleep, Amsterdam Neuroscience - Complex Trait Genetics, Adult Psychiatry, ANS - Compulsivity, Impulsivity & Attention, and Complex Trait Genetics

Subjects
Obsessive-Compulsive Disorder, Adolescent, Locus (genetics), Genome-wide association study, Biology, Genetic correlation, Article, lcsh:RC321-571, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, All institutes and research themes of the Radboud University Medical Center, Risk Factors, Statistical significance, Human behaviour, mental disorders, Humans, Genetic risk, Child, lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry, Biological Psychiatry, 030304 developmental biology, Genetic association, Genetics, 0303 health sciences, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Obsessive-compulsive trait, Genomics, 3. Good health, Psychiatry and Mental health, Phenotype, Trait, Compulsive Behavior, 030217 neurology & neurosurgery, Genome-Wide Association Study
Abstract

Using a novel trait-based measure, we examined genetic variants associated with obsessive-compulsive (OC) traits and tested whether OC traits and obsessive-compulsive disorder (OCD) shared genetic risk. We conducted a genome-wide association analysis (GWAS) of OC traits using the Toronto Obsessive-Compulsive Scale (TOCS) in 5018 unrelated Caucasian children and adolescents from the community (Spit for Science sample). We tested the hypothesis that genetic variants associated with OC traits from the community would be associated with clinical OCD using a meta-analysis of all currently available OCD cases. Shared genetic risk was examined between OC traits and OCD in the respective samples using polygenic risk score and genetic correlation analyses. A locus tagged by rs7856850 in an intron of PTPRD (protein tyrosine phosphatase δ) was significantly associated with OC traits at the genome-wide significance level (p = 2.48 × 10−8). rs7856850 was also associated with OCD in a meta-analysis of OCD case/control genome-wide datasets (p = 0.0069). The direction of effect was the same as in the community sample. Polygenic risk scores from OC traits were significantly associated with OCD in case/control datasets and vice versa (p’s rg = 0.71, p = 0.062). We report the first validated genome-wide significant variant for OC traits in PTPRD, downstream of the most significant locus in a previous OCD GWAS. OC traits measured in the community sample shared genetic risk with OCD case/control status. Our results demonstrate the feasibility and power of using trait-based approaches in community samples for genetic discovery.

Published
2021

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