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51. A central role for anterior cingulate cortex in the control of pathological aggression

Author

van Heukelum, Sabrina, primary, Tulva, Kerli, additional, Geers, Femke E., additional, van Dulm, Sanne, additional, Ruisch, I. Hyun, additional, Mill, Jonathan, additional, Viana, Joana F., additional, Beckmann, Christian F., additional, Buitelaar, Jan K., additional, Poelmans, Geert, additional, Glennon, Jeffrey C., additional, Vogt, Brent A., additional, Havenith, Martha N., additional, and França, Arthur S.C., additional

Published
2021
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52. 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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53. 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

54. Vitamin D related genetic polymorphisms affect serological response to high-dose vitamin D supplementation in multiple sclerosis

Author

Mimpen, Max, Rolf, Linda, Poelmans, Geert, van den Ouweland, Jody, Hupperts, Raymond, Damoiseaux, Jan, Smolders, Joost, Mimpen, Max, Rolf, Linda, Poelmans, Geert, van den Ouweland, Jody, Hupperts, Raymond, Damoiseaux, Jan, and Smolders, Joost

Abstract

INTRODUCTION: A poor 25-hydroxyvitamin D (25(OH)D) status is a much replicated risk factor for developing multiple sclerosis (MS), and several vitamin D-associated single nucleotide polymorphisms (SNPs) have been associated with a higher risk of MS. However, studies on the benefit of vitamin D supplementation in MS show inconclusive results. Here, we explore whether vitamin D-associated SNPs and MS risk alleles confound serological response to vitamin D supplementation.METHODS: 34 participants from the SOLARIUM study consented to genotyping, of which 26 had vitamin D data available. The SOLARIUM study randomised relapsing-remitting MS patients to placebo or 14,000 IU vitamin D3 for 48 weeks. Participants were categorised as either 'carriers' or 'non-carriers' of the risk allele for 4 SNPs: two related to D binding protein (DBP) and associated with lower 25(OH)D levels (rs4588 and rs7041), and two related to vitamin D metabolism enzymes CYP27B1 and CYP24A1 and associated with a higher risk of MS (rs12368653; rs2248359, respectively). 25(OH)D levels were determined at baseline and after 48 weeks.RESULTS: The DBP-related SNPs showed no difference in 25(OH)D status at baseline, but carriers of the rs7041 risk allele showed lower 25(OH)D-levels compared to non-carriers after 48 weeks of supplementation (median 224.2 vs. 332.0 nmol/L, p = 0.013). For CYP related SNPs, neither showed a difference at baseline, but carriers of the rs12368653 risk allele showed higher 25(OH)D-levels compared to non-carriers after 48 weeks of supplementation (median 304.1 vs. 152.0 nmol/L, p = 0.014).DISCUSSION: Vitamin D-related SNPs affect the serological response to high-dose vitamin D supplementation. The effects on more common doses of vitamin D, as well as the clinical consequence of this altered response, need to be investigated further.

Published
2021

55. 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, I. Hyun, additional, Haavik, Jan, additional, van Gils, Veerle, additional, Jansen, Willemijn J., additional, Vos, Stephanie J. B., additional, Lind, Lars, additional, Buitelaar, Jan K., 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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57. Cross-disorder genetic analyses implicate dopaminergic signaling as a biological link between adttention-eficit/hyperactivity disorder and obesity measures

Author

Mota, Nina Roth, Poelmans, Geert, Klein, Marieke, Torrico, Bàrbara, Fernàndez-Castillo, Noèlia, Cormand, Bru, Reif, Andreas, Franke, Barbara, Arias Vásquez, Alejandro, Mota, Nina Roth, Poelmans, Geert, Klein, Marieke, Torrico, Bàrbara, Fernàndez-Castillo, Noèlia, Cormand, Bru, Reif, Andreas, Franke, Barbara, and Arias Vásquez, Alejandro

Abstract

Attention-Deficit/Hyperactivity Disorder (ADHD) and obesity are frequently comorbid, genetically correlated, and share brain substrates. The biological mechanisms driving this association are unclear, but candidate systems, like dopaminergic neurotransmission and circadian rhythm, have been suggested. Our aim was to identify the biological mechanisms underpinning the genetic link between ADHD and obesity measures and investigate associations of overlapping genes with brain volumes. We tested the association of dopaminergic and circadian rhythm gene sets with ADHD, body mass index (BMI), and obesity (using GWAS data of N = 53,293, N = 681,275, and N = 98,697, respectively). We then conducted genome-wide ADHD–BMI and ADHD–obesity gene-based meta-analyses, followed by pathway enrichment analyses. Finally, we tested the association of ADHD–BMI overlapping genes with brain volumes (primary GWAS data N = 10,720–10,928; replication data N = 9428). The dopaminergic gene set was associated with both ADHD (P = 5.81 × 10−3) and BMI (P = 1.63 × 10−5); the circadian rhythm was associated with BMI (P = 1.28 × 10−3). The genome-wide approach also implicated the dopaminergic system, as the Dopamine-DARPP32 Feedback in cAMP Signaling pathway was enriched in both ADHD–BMI and ADHD–obesity results. The ADHD–BMI overlapping genes were associated with putamen volume (P = 7.7 × 10−3; replication data P = 3.9 × 10−2)—a brain region with volumetric reductions in ADHD and BMI and linked to inhibitory control. Our findings suggest that dopaminergic neurotransmission, partially through DARPP-32-dependent signaling and involving the putamen, is a key player underlying the genetic overlap between ADHD and obesity measures. Uncovering shared etiological factors underlying the frequently observed ADHD–obesity comorbidity may have important implications in terms of prevention and/or efficient treatment of these conditions.

Published
2020

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

Author

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

Published
2020
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62. Molecular landscape of pelvic organ prolapse provides insights into disease etiology and clues towards putative novel treatments

Author

Kluivers, Kirsten B., primary, Lince, Sabrina L., additional, Ruiz-Zapata, Alejandra M., additional, Cartwright, Rufus, additional, Kerkhof, Manon H., additional, Widomska, Joanna, additional, De Witte, Ward, additional, Post, Wilke M., 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
2020
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63. GENETIC UNDERPINNINGS OF SOCIABILITY

Author

Bralten, Janita, Klemann, Cornelius, Mota, Nina Roth, De Witte, Ward, Fabbri, Chiara, Milaneschi, Yuri, Kas, Martien, van der Wee, Nic, Penninx, Brenda, Serretti, Alessandro, Franke, Barbara, Poelmans, Geert, and Kas lab

Published
2019

64. Structural white matter networks in myotonic dystrophy type 1

Author

van Dorst, Maud, Okkersen, Kees, Kessels, Roy P. C., Meijer, Frederick J. A., Monckton, Darren G., van Engelen, Baziel G. M., Tuladhar, Anil M., Raaphorst, Joost, 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, Lochmueller, Hanns, Gorman, Grainne, Moreno, Aura Cecilia Jimenez, Trenell, Michael, van Laar, Sandra, Wood, Libby, Cassidy, Sophie, Newman, Jane, Charman, Sarah, Steffaneti, Renae, Taylor, Louise, Brownrigg, Allan, Day, Sharon, Atalaia, Antonio, Schoser, Benedikt, Wenninger, Stephan, Schueller, Angela, Stahl, Kristina, Kuenzel, Heike, Wolf, Martin, Jelinek, Anna, Bassez, Guillaume, Daidj, Ferroudja, Faber, Catharina, Merkies, Ingemar, Neurology, Amsterdam Neuroscience - Neuroinfection & -inflammation, Klinische Neurowetenschappen, MUMC+: MA Med Staf Spec Neurologie (9), and RS: MHeNs - R1 - Cognitive Neuropsychiatry and Clinical Neuroscience

Subjects
Male, Alzheimer`s disease Donders Center for Medical Neuroscience [Radboudumc 1], CTG REPEATS, Neuropsychological Tests, Audiology, lcsh:RC346-429, RICH-CLUB, 0302 clinical medicine, QUALITY-OF-LIFE, Neural Pathways, Image Processing, Computer-Assisted, Myotonic Dystrophy, Medicine, Purdue Pegboard Test, Apathy, Neuropsychological assessment, SCALE, PERSONALITY, medicine.diagnostic_test, Myotonic dystrophy type 1, ABNORMALITIES, White matter, 05 social sciences, Neuropsychology, Brain, EXPANSION, Middle Aged, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Diffusion tensor imaging, medicine.anatomical_structure, Neurology, lcsh:R858-859.7, Female, medicine.symptom, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], MRI, Tractography, Adult, medicine.medical_specialty, Cognitive Neuroscience, lcsh:Computer applications to medicine. Medical informatics, Myotonic dystrophy, Article, 050105 experimental psychology, 03 medical and health sciences, Humans, 0501 psychology and cognitive sciences, Radiology, Nuclear Medicine and imaging, BRAIN CONNECTIVITY, lcsh:Neurology. Diseases of the nervous system, Neuro- en revalidatiepsychologie, business.industry, Neuropsychology and rehabilitation psychology, SPATIAL STATISTICS, COGNITIVE IMPAIRMENT, medicine.disease, Cross-Sectional Studies, Neurology (clinical), Networks, business, 030217 neurology & neurosurgery, Diffusion MRI
Abstract

The myriad of neuropsychiatric manifestations reported in myotonic dystrophy type 1 may have its origin in alterations of complex brain network interactions at the structural level. In this study, we tested the hypothesis that altered white matter microstructural integrity and network organisation were present in a cohort of individuals with DM1 compared to unaffected controls, which was expected to be associated with CNS related disease manifestations of DM1. We performed a cross-sectional neuropsychological assessment and brain MRI in 25 myotonic dystrophy type 1 (DM1) patients and 26 age, sex and educational level matched unaffected controls. Patients were recruited from the Dutch cohort of the OPTIMISTIC study, a concluded trial which had included ambulant, genetically confirmed DM1 patients who were severely fatigued. We applied graph theoretical analysis on structural networks derived from diffusion tensor imaging (DTI) data and deterministic tractography to determine global and local network properties and performed group-wise comparisons. Furthermore, we analysed the following variables from structural MRI imaging: semi-quantitative white matter hyperintensity load andwhite matter tract integrity using tract-based spatial statistics (TBSS). Structural white matter networks in DM1 were characterised by reduced global efficiency, local efficiency and strength, while the network density was compatible to controls. Other findings included increased white matter hyperintensity load, and diffuse alterations of white matter microstructure in projection, association and commissural fibres. DTI and network measures were associated (partial correlations coefficients ranging from 0.46 to 0.55) with attention (d2 Test), motor skill (Purdue Pegboard test) and visual-constructional ability and memory (copy subtest of the Rey-Osterrieth Complex Figure Test). DTI and network measures were not associated with clinical measures of fatigue (checklist individual strength, fatigue subscale) or apathy (apathy evaluation scale – clinician version). In conclusion, our study supports the view of brain involvement in DM1 as a complex network disorder, characterised by white matter network alterations that may have relevant neuropsychological correlations. This work was supported by the European Community's Seventh Framework Programme (FP7/2007–2013; grant agreement n° 305,697) and the Marigold Foundation., Highlights • Structural white matter networks in DM1 display diffuse alterations in connectivity in comparison with unaffected controls • Networks are characterised by decreased strenght, local and global efficiency, at a comparable density • In this study, network parameters were slightly associated with measures of neuropsychological performance

Published
2019

65. Cross-disorder genetic analyses implicate dopaminergic signaling as a biological link between attention-deficit/hyperactivity disorder and obesity measures

Author

Mota, Nina Roth, Poelmans, Geert, Klein, Marieke, Torrico, Bàrbara, Fernàndez-Castillo, Noèlia, Cormand, Bru, Reif, Andreas, Franke, Barbara, Arias Vásquez, Alejandro, Mota, Nina Roth, Poelmans, Geert, Klein, Marieke, Torrico, Bàrbara, Fernàndez-Castillo, Noèlia, Cormand, Bru, Reif, Andreas, Franke, Barbara, and Arias Vásquez, Alejandro

Abstract

Attention-Deficit/Hyperactivity Disorder (ADHD) is frequently comorbid with other psychiatric disorders and also with somatic conditions, such as obesity. In addition to the clinical overlap, significant genetic correlations have been found between ADHD and obesity as well as body mass index (BMI). The biological mechanisms driving this association are largely unknown, but some candidate systems, like dopaminergic neurotransmission and circadian rhythm, have been suggested. Our aim was to identify the biological mechanisms underpinning the link between ADHD and obesity measures. Using the largest GWAS summary statistics currently available for ADHD (N=53,293), BMI (N=681,275), and obesity (N=98,697), we first tested the association of dopaminergic and circadian rhythm gene sets with each phenotype. This hypothesis-driven approach showed that the dopaminergic gene set was associated with both ADHD (P=5.81×10−3) and BMI (P=1.63×10−5), while the circadian rhythm gene set was associated with BMI only (P=1.28×10−3). We then took a data-driven approach by conducting genome-wide ADHD-BMI and ADHD-obesity gene-based meta-analyses, followed by pathway enrichment analyses. This approach further supported the implication of dopaminergic signaling in the link between ADHD and obesity measures, as the Dopamine-DARPP32 Feedback in cAMP Signaling pathway was significantly enriched in both the ADHD-BMI and ADHD-obesity gene-based meta-analysis results. Our findings suggest that dopaminergic neurotransmission, partially through DARPP-32-dependent signaling, is a key player underlying the genetic overlap between ADHD and obesity measures. Uncovering the shared etiological factors underlying the frequently observed ADHD-obesity comorbidity may have important implications in terms of preventive interventions and/or efficient treatment of these conditions.

Published
2019

66. T64SHARED GENETIC ETIOLOGY BETWEEN OBSESSIVE-COMPULSIVE DISORDER, OBSESSIVE-COMPULSIVE SYMPTOMS IN THE POPULATION, AND INSULIN SIGNALING

Author

Widomska, Joanna, primary, Bralten, Janita, additional, De Witte, Ward, additional, Yu, Dongmei, additional, Mathews, Carol, additional, Scharf, Jeremiah, additional, Buitelaar, Jan, additional, Crosbie, Jennifer, additional, Schachar, Russell, additional, Arnold, Paul, additional, Lemire, Mathieu, additional, Burton, Christie, additional, Franke, Barbara, additional, and Poelmans, Geert, additional

Published
2019
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67. 12 GENETIC UNDERPINNINGS OF SOCIABILITY

Author

Bralten, Janita, primary, Klemann, Cornelius, additional, Mota, Nina Roth, additional, De Witte, Ward, additional, Fabbri, Chiara, additional, Milaneschi, Yuri, additional, Kas, Martien, additional, van der Wee, Nic, additional, Penninx, Brenda, additional, Serretti, Alessandro, additional, Franke, Barbara, additional, and Poelmans, Geert, additional

Published
2019
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70. Shared genetic etiology between obsessive-compulsive disorder, obsessive-compulsive symptoms in the population, and insulin signaling

Author

Bralten, Janita, primary, Widomska, Joanna, additional, De Witte, Ward, additional, Yu, Dongmei, additional, Mathews, Carol A., additional, Scharf, Jeremiah M., additional, Buitelaar, Jan, additional, Crosbie, Jennifer, additional, Schachar, Russell, additional, Arnold, Paul, additional, Lemire, Mathieu, additional, Burton, Christie L., additional, Franke, Barbara, additional, and Poelmans, Geert, additional

Published
2019
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74. DETERMINING THE GENETIC OVERLAP BETWEEN TOURETTE SYNDROME (TS), OBSESSIVE COMPULSIVE DISORDER (OCD) AND OCD/TIC-RELATED TRAITS

Author

Widomska, Joanna, primary, Bralten, Janita, additional, Martens, Marijn, additional, De Witte, Ward, additional, van de Vondervoort, Ilse, additional, Yu, Dongmei, additional, Mathews, Carol, additional, Scharf, Jeremiah, additional, Buitelaar, Jan, additional, Glennon, Jeffrey, additional, Franke, Barbara, additional, and Poelmans, Geert, additional

Published
2019
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81. Long genes are more frequently affected by somatic mutations and show reduced expression in Alzheimer's disease: Implications for disease etiology.

Author

Soheili‐Nezhad, Sourena, Linden, Robert J., Olde Rikkert, Marcel, Sprooten, Emma, and Poelmans, Geert

Abstract

Aging, the greatest risk factor for Alzheimer's disease (AD), may lead to the accumulation of somatic mutations in neurons. We investigated whether somatic mutations, specifically in longer genes, are implicated in AD etiology. First, we modeled the theoretical likelihood of genes being affected by aging‐induced somatic mutations, dependent on their length. We then tested this model and found that long genes are indeed more affected by somatic mutations and that their expression is more frequently reduced in AD brains. Furthermore, using gene‐set enrichment analysis, we investigated the potential consequences of such long gene disruption. We found that long genes are involved in synaptic adhesion and other synaptic pathways that are predicted to be inhibited in the brains of AD patients. Taken together, our findings indicate that long gene–dependent synaptic impairment may contribute to AD pathogenesis. [ABSTRACT FROM AUTHOR]

Published
2021
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82. Glutamatergic and GABAergic gene sets in attention-deficit/hyperactivity disorder: association to overlapping traits in ADHD and autism

Author

Naaijen, Jilly, Bralten, Janita, Poelmans, Geert, Faraone, Stephen, Asherson, Philip, Banaschewski, T, Buitelaar, J., Franke, B, Ebstein, R P, Gill, M., Miranda, A., Oades, R.D., Roevers, H., Rothenberger, A, Sergeant, J., Barke, Edmund James, Anney, R., Mulas, F, Steinhausen, H C, Glennon, JC, and Buitelaar, JK

Subjects
0301 basic medicine, Male, Candidate gene, Adolescent, Autism Spectrum Disorder, Medizin, Glutamic Acid, Nerve Tissue Proteins, Impulsivity, Receptors, Metabotropic Glutamate, Receptors, N-Methyl-D-Aspartate, Severity of Illness Index, behavioral disciplines and activities, 150 000 MR Techniques in Brain Function, 03 medical and health sciences, Cellular and Molecular Neuroscience, Glutamatergic, 0302 clinical medicine, mental disorders, medicine, Attention deficit hyperactivity disorder, Humans, Receptors, AMPA, Autistic Disorder, Child, Biological Psychiatry, gamma-Aminobutyric Acid, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Fusion Regulatory Protein 1, Light Chains, Calcium-Binding Proteins, Glutamate receptor, Amino Acid Transport System y+L, medicine.disease, Receptors, GABA-A, Psychiatry and Mental health, 030104 developmental biology, Schizophrenia, Attention Deficit Disorder with Hyperactivity, Child, Preschool, Autism, GABAergic, Original Article, Female, medicine.symptom, Psychology, Neuroscience, 030217 neurology & neurosurgery
Abstract

Attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorders (ASD) often co-occur. Both are highly heritable; however, it has been difficult to discover genetic risk variants. Glutamate and GABA are main excitatory and inhibitory neurotransmitters in the brain; their balance is essential for proper brain development and functioning. In this study we investigated the role of glutamate and GABA genetics in ADHD severity, autism symptom severity and inhibitory performance, based on gene set analysis, an approach to investigate multiple genetic variants simultaneously. Common variants within glutamatergic and GABAergic genes were investigated using the MAGMA software in an ADHD case-only sample (n=931), in which we assessed ASD symptoms and response inhibition on a Stop task. Gene set analysis for ADHD symptom severity, divided into inattention and hyperactivity/impulsivity symptoms, autism symptom severity and inhibition were performed using principal component regression analyses. Subsequently, gene-wide association analyses were performed. The glutamate gene set showed an association with severity of hyperactivity/impulsivity (P=0.009), which was robust to correcting for genome-wide association levels. The GABA gene set showed nominally significant association with inhibition (P=0.04), but this did not survive correction for multiple comparisons. None of single gene or single variant associations was significant on their own. By analyzing multiple genetic variants within candidate gene sets together, we were able to find genetic associations supporting the involvement of excitatory and inhibitory neurotransmitter systems in ADHD and ASD symptom severity in ADHD.

Published
2017

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

Author

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

Published
2018
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85. 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

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

Published
2018
Full Text
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87. Disruption of The Psychiatric Risk Gene Ankyrin 3 Enhances Microtubule Dynamics Through GSK3/CRMP2 Signaling

Author

Garza, Jacob C, primary, Qi, Xiaoli, additional, Gjeluci, Klaudio, additional, Leussis, Melanie P, additional, Basu, Himanish, additional, Reis, Surya A, additional, Zhao, Wen Ning, additional, Piguel, Nicolas H, additional, Penzes, Peter, additional, Haggarty, Stephen J, additional, Martens, Gerard J, additional, Poelmans, Geert, additional, and Petryshen, Tracey L, additional

Published
2018
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88. TS-EUROTRAIN: A European-Wide Investigation and Training Network on the Etiology and Pathophysiology of Gilles de la Tourette Syndrome

Author

Forde, Natalie J., Kanaan, Ahmad S., Widomska, Joanna, Padmanabhuni, Shanmukha S., Nespoli, Ester, Alexander, John, Rodriguez Arranz, Juan I., Fan, Siyan, Houssari, Rayan, Nawaz, Muhammad S., Rizzo, Francesca, Pagliaroli, Luca, Zilhäo, Nuno R., Aranyi, Tamas, Barta, Csaba, Boeckers, Tobias M., Boomsma, Dorret I., Buisman, Wim R., Buitelaar, Jan K., Cath, Danielle, Dietrich, Andrea, Driessen, Nicole, Drineas, Petros, Dunlap, Michelle, Gerasch, Sarah, Glennon, Jeffrey, Hengerer, Bastian, van den Heuvel, Odile A., Jespersgaard, Cathrine, Möller, Harald E., Müller-Vahl, Kirsten R., Openneer, Thaïra J. C., Poelmans, Geert, Pouwels, Petra J. W., Scharf, Jeremiah M., Stefansson, Hreinn, Tümer, Zeynep, Veltman, Dick J., van der Werf, Ysbrand D., Hoekstra, Pieter J., Ludolph, Andrea, and Paschou, Peristera

Subjects
tourette disorder, neuroimaging, Gilles de la Tourette Syndrome, Initial Training Network, etiology, genetics, animal models, Neuroscience
Abstract

Gilles de la Tourette Syndrome (GTS) is characterized by the presence of multiple motor and phonic tics with a fluctuating course of intensity, frequency, and severity. Up to 90% of patients with GTS present with comorbid conditions, most commonly attention-deficit/hyperactivity disorder (ADHD), and obsessive-compulsive disorder (OCD), thus providing an excellent model for the exploration of shared etiology across disorders. TS-EUROTRAIN (FP7-PEOPLE-2012-ITN, Grant Agr.No. 316978) is a Marie Curie Initial Training Network (http://ts-eurotrain.eu) that aims to elucidate the complex etiology of the onset and clinical course of GTS, investigate the neurobiological underpinnings of GTS and related disorders, translate research findings into clinical applications, and establish a pan-European infrastructure for the study of GTS. This includes the challenges of (i) assembling a large genetic database for the evaluation of the genetic architecture with high statistical power; (ii) exploring the role of gene-environment interactions including the effects of epigenetic phenomena; (iii) employing endophenotype-based approaches to understand the shared etiology between GTS, OCD, and ADHD; (iv) establishing a developmental animal model for GTS; (v) gaining new insights into the neurobiological mechanisms of GTS via cross-sectional and longitudinal neuroimaging studies; and (vi) partaking in outreach activities including the dissemination of scientific knowledge about GTS to the public. Fifteen partners from academia and industry and 12 PhD candidates pursue the project. Here, we aim to share the design of an interdisciplinary project, showcasing the potential of large-scale collaborative efforts in the field of GTS. Our ultimate aims are to elucidate the complex etiology and neurobiological underpinnings of GTS, translate research findings into clinical applications, and establish Pan-European infrastructure for the study of GTS and associated disorders.

Published
2016
Full Text
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89. Gene-set and multivariate genome-wide association analysis of oppositional defiant behavior subtypes in attention-deficit/hyperactivity disorder

Author

Aebi, Marcel, van Donkelaar, Marjolein M J, Poelmans, Geert, Buitelaar, Jan K, Sonuga-Barke, Edmund J S, Stringaris, Argyris, Faraone, Stephen V, Franke, Barbara, Steinhausen, Hans-Christoph, van Hulzen, Kimm J E, University of Zurich, and Aebi, Marcel

Subjects
2716 Genetics (clinical), 2738 Psychiatry and Mental Health, 2804 Cellular and Molecular Neuroscience, 610 Medicine & health, 10058 Department of Child and Adolescent Psychiatry
Published
2016

92. Exome chip study provides novel insights into the genetics of pelvic organ prolapse

Author

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

Published
2017
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93. Prioritization and burden analysis of rare variants in 208 candidate genes suggest they do not play a major role in CAKUT

Author

Nicolaou, Nayia, Pulit, Sara L, Nijman, Isaac J, Monroe, Glen R, Feitz, Wout F J, Schreuder, Michiel F, van Eerde, Albertien M, de Jong, Tom P V M, Giltay, Jacques C, van der Zwaag, Bert, Havenith, Marlies R, Zwakenberg, Susan, van der Zanden, Loes F M, Poelmans, Geert, Cornelissen, Elisabeth A M, Lilien, Marc R, Franke, Barbara, Roeleveld, Nel, van Rooij, Iris A L M, Cuppen, Edwin, Bongers, Ernie M H F, Giles, Rachel H, Knoers, Nine V A M, Renkema, Kirsten Y, Nicolaou, Nayia, Pulit, Sara L, Nijman, Isaac J, Monroe, Glen R, Feitz, Wout F J, Schreuder, Michiel F, van Eerde, Albertien M, de Jong, Tom P V M, Giltay, Jacques C, van der Zwaag, Bert, Havenith, Marlies R, Zwakenberg, Susan, van der Zanden, Loes F M, Poelmans, Geert, Cornelissen, Elisabeth A M, Lilien, Marc R, Franke, Barbara, Roeleveld, Nel, van Rooij, Iris A L M, Cuppen, Edwin, Bongers, Ernie M H F, Giles, Rachel H, Knoers, Nine V A M, and Renkema, Kirsten Y

Published
2016

94. TS-EUROTRAIN: A European-Wide Investigation and Training Network on the Etiology and Pathophysiology of Gilles de la Tourette Syndrome

Author

Experimental psychopathology, Leerstoel Hout, Forde, Natalie J, Kanaan, Ahmad S, Widomska, Joanna, Padmanabhuni, Shanmukha S, Nespoli, Ester, Alexander, John, Rodriguez Arranz, Juan I, Fan, Siyan, Houssari, Rayan, Nawaz, Muhammad S, Rizzo, Francesca, Pagliaroli, Luca, Rodrigues Zilhao Nogueira, Nuno, Aranyi, Tamas, Barta, Csaba, Boeckers, Tobias M, Boomsma, Dorret I, Buisman, Wim R, Buitelaar, Jan K, Cath, Danielle, Dietrich, Andrea, Driessen, Nicole, Drineas, Petros, Dunlap, Michelle, Gerasch, Sarah, Glennon, Jeffrey, Hengerer, Bastian, van den Heuvel, Odile A, Jespersgaard, Cathrine, Möller, Harald E, Müller-Vahl, Kirsten R, Openneer, Thaïra J C, Poelmans, Geert, Pouwels, Petra J W, Scharf, Jeremiah M, Stefansson, Hreinn, Tümer, Zeynep, Veltman, Dick J, van der Werf, Ysbrand D, Hoekstra, Pieter J, Ludolph, Andrea, Paschou, Peristera, Experimental psychopathology, Leerstoel Hout, Forde, Natalie J, Kanaan, Ahmad S, Widomska, Joanna, Padmanabhuni, Shanmukha S, Nespoli, Ester, Alexander, John, Rodriguez Arranz, Juan I, Fan, Siyan, Houssari, Rayan, Nawaz, Muhammad S, Rizzo, Francesca, Pagliaroli, Luca, Rodrigues Zilhao Nogueira, Nuno, Aranyi, Tamas, Barta, Csaba, Boeckers, Tobias M, Boomsma, Dorret I, Buisman, Wim R, Buitelaar, Jan K, Cath, Danielle, Dietrich, Andrea, Driessen, Nicole, Drineas, Petros, Dunlap, Michelle, Gerasch, Sarah, Glennon, Jeffrey, Hengerer, Bastian, van den Heuvel, Odile A, Jespersgaard, Cathrine, Möller, Harald E, Müller-Vahl, Kirsten R, Openneer, Thaïra J C, Poelmans, Geert, Pouwels, Petra J W, Scharf, Jeremiah M, Stefansson, Hreinn, Tümer, Zeynep, Veltman, Dick J, van der Werf, Ysbrand D, Hoekstra, Pieter J, Ludolph, Andrea, and Paschou, Peristera

Published
2016

95. TS-EUROTRAIN: A European-Wide Investigation and Training Network on the Etiology and Pathophysiology of Gilles de la Tourette Syndrome

Author

Forde, Natalie J, Kanaan, Ahmad S, Widomska, Joanna, Padmanabhuni, Shanmukha S, Nespoli, Ester, Alexander, John, Rodriguez Arranz, Juan I, Fan, Siyan, Houssari, Rayan, Nawaz, Muhammad S, Rizzo, Francesca, Pagliaroli, Luca, Zilhäo, Nuno R, Aranyi, Tamas, Barta, Csaba, Boeckers, Tobias M, Boomsma, Dorret I, Buisman, Wim R, Buitelaar, Jan K, Cath, Danielle, Dietrich, Andrea, Driessen, Nicole, Drineas, Petros, Dunlap, Michelle, Gerasch, Sarah, Glennon, Jeffrey, Hengerer, Bastian, van den Heuvel, Odile A, Jespersgaard, Cathrine, Möller, Harald E, Müller-Vahl, Kirsten R, Openneer, Thaïra J C, Poelmans, Geert, Pouwels, Petra J W, Scharf, Jeremiah M, Stefansson, Hreinn, Tümer, Zeynep, Veltman, Dick J, van der Werf, Ysbrand D, Hoekstra, Pieter J, Ludolph, Andrea, Paschou, Peristera, Forde, Natalie J, Kanaan, Ahmad S, Widomska, Joanna, Padmanabhuni, Shanmukha S, Nespoli, Ester, Alexander, John, Rodriguez Arranz, Juan I, Fan, Siyan, Houssari, Rayan, Nawaz, Muhammad S, Rizzo, Francesca, Pagliaroli, Luca, Zilhäo, Nuno R, Aranyi, Tamas, Barta, Csaba, Boeckers, Tobias M, Boomsma, Dorret I, Buisman, Wim R, Buitelaar, Jan K, Cath, Danielle, Dietrich, Andrea, Driessen, Nicole, Drineas, Petros, Dunlap, Michelle, Gerasch, Sarah, Glennon, Jeffrey, Hengerer, Bastian, van den Heuvel, Odile A, Jespersgaard, Cathrine, Möller, Harald E, Müller-Vahl, Kirsten R, Openneer, Thaïra J C, Poelmans, Geert, Pouwels, Petra J W, Scharf, Jeremiah M, Stefansson, Hreinn, Tümer, Zeynep, Veltman, Dick J, van der Werf, Ysbrand D, Hoekstra, Pieter J, Ludolph, Andrea, and Paschou, Peristera

Abstract

Gilles de la Tourette Syndrome (GTS) is characterized by the presence of multiple motor and phonic tics with a fluctuating course of intensity, frequency, and severity. Up to 90% of patients with GTS present with comorbid conditions, most commonly attention-deficit/hyperactivity disorder (ADHD), and obsessive-compulsive disorder (OCD), thus providing an excellent model for the exploration of shared etiology across disorders. TS-EUROTRAIN (FP7-PEOPLE-2012-ITN, Grant Agr.No. 316978) is a Marie Curie Initial Training Network (http://ts-eurotrain.eu) that aims to elucidate the complex etiology of the onset and clinical course of GTS, investigate the neurobiological underpinnings of GTS and related disorders, translate research findings into clinical applications, and establish a pan-European infrastructure for the study of GTS. This includes the challenges of (i) assembling a large genetic database for the evaluation of the genetic architecture with high statistical power; (ii) exploring the role of gene-environment interactions including the effects of epigenetic phenomena; (iii) employing endophenotype-based approaches to understand the shared etiology between GTS, OCD, and ADHD; (iv) establishing a developmental animal model for GTS; (v) gaining new insights into the neurobiological mechanisms of GTS via cross-sectional and longitudinal neuroimaging studies; and (vi) partaking in outreach activities including the dissemination of scientific knowledge about GTS to the public. Fifteen partners from academia and industry and 12 PhD candidates pursue the project. Here, we aim to share the design of an interdisciplinary project, showcasing the potential of large-scale collaborative efforts in the field of GTS. Our ultimate aims are to elucidate the complex etiology and neurobiological underpinnings of GTS, translate research findings into clinical applications, and establish Pan-European infrastructure for the study of GTS and associated disorders.

Published
2016

96. Prioritization and burden analysis of rare variants in 208 candidate genes suggest they do not play a major role in CAKUT

Author

Neurogenetica, CMM Groep Cuppen, Cancer, Genetica Sectie Genoomdiagnostiek, Genetica Medische Informatica, Genetica Groep Van Haaften, Circulatory Health, Genetica Klinische Genetica, Child Health, Other research (not in main researchprogram), Nefrologie, CMM, Brain, CMM Sectie Genomics and Bioinformatics, Nefro Vasculaire Geneeskunde, Regenerative Medicine and Stem Cells, Genetica, Genetica Groep Van Tintelen, Nicolaou, Nayia, Pulit, Sara L, Nijman, Isaac J, Monroe, Glen R, Feitz, Wout F J, Schreuder, Michiel F, van Eerde, Albertien M, de Jong, Tom P V M, Giltay, Jacques C, van der Zwaag, Bert, Havenith, Marlies R, Zwakenberg, Susan, van der Zanden, Loes F M, Poelmans, Geert, Cornelissen, Elisabeth A M, Lilien, Marc R, Franke, Barbara, Roeleveld, Nel, van Rooij, Iris A L M, Cuppen, Edwin, Bongers, Ernie M H F, Giles, Rachel H, Knoers, Nine V A M, Renkema, Kirsten Y, Neurogenetica, CMM Groep Cuppen, Cancer, Genetica Sectie Genoomdiagnostiek, Genetica Medische Informatica, Genetica Groep Van Haaften, Circulatory Health, Genetica Klinische Genetica, Child Health, Other research (not in main researchprogram), Nefrologie, CMM, Brain, CMM Sectie Genomics and Bioinformatics, Nefro Vasculaire Geneeskunde, Regenerative Medicine and Stem Cells, Genetica, Genetica Groep Van Tintelen, Nicolaou, Nayia, Pulit, Sara L, Nijman, Isaac J, Monroe, Glen R, Feitz, Wout F J, Schreuder, Michiel F, van Eerde, Albertien M, de Jong, Tom P V M, Giltay, Jacques C, van der Zwaag, Bert, Havenith, Marlies R, Zwakenberg, Susan, van der Zanden, Loes F M, Poelmans, Geert, Cornelissen, Elisabeth A M, Lilien, Marc R, Franke, Barbara, Roeleveld, Nel, van Rooij, Iris A L M, Cuppen, Edwin, Bongers, Ernie M H F, Giles, Rachel H, Knoers, Nine V A M, and Renkema, Kirsten Y

Published
2016

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