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1. De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis

Author

Sheng Wang, Jeffrey D. Mandell, Yogesh Kumar, Nawei Sun, Montana T. Morris, Juan Arbelaez, Cara Nasello, Shan Dong, Clif Duhn, Xin Zhao, Zhiyu Yang, Shanmukha S. Padmanabhuni, Dongmei Yu, Robert A. King, Andrea Dietrich, Najah Khalifa, Niklas Dahl, Alden Y. Huang, Benjamin M. Neale, Giovanni Coppola, Carol A. Mathews, Jeremiah M. Scharf, Thomas V. Fernandez, Joseph D. Buxbaum, Silvia De Rubeis, Dorothy E. Grice, Jinchuan Xing, Gary A. Heiman, Jay A. Tischfield, Peristera Paschou, A. Jeremy Willsey, Matthew W. State, Mohamed Abdulkadir, Benjamin Bodmer, Yana Bromberg, Lawrence W. Brown, Keun-Ah Cheon, Barbara J. Coffey, Li Deng, Lonneke Elzerman, Carolin Fremer, Blanca Garcia-Delgar, Donald L. Gilbert, Julie Hagstrøm, Tammy Hedderly, Isobel Heyman, Pieter J. Hoekstra, Hyun Ju Hong, Chaim Huyser, Eun-Joo Kim, Young Key Kim, Young-Shin Kim, Yun-Joo Koh, Sodahm Kook, Samuel Kuperman, Bennett L Leventhal, Andrea G. Ludolph, Marcos Madruga-Garrido, Athanasios Maras, Pablo Mir, Astrid Morer, Montana T Morris, Kirsten Müller-Vahl, Alexander Münchau, Tara L. Murphy, Kerstin J. Plessen, Hannah Poisner, Veit Roessner, Stephan J. Sanders, Eun-Young Shin, Dong-Ho Song, Jungeun Song, Joshua K. Thackray, Jennifer Tübing, Frank Visscher, Sina Wanderer, A Jeremy Willsey, Martin Woods, Yeting Zhang, Samuel H. Zinner, Christos Androutsos, Csaba Barta, Luca Farkas, Jakub Fichna, Marianthi Georgitsi, Piotr Janik, Iordanis Karagiannidis, Anastasia Koumoula, Peter Nagy, Joanna Puchala, Renata Rizzo, Natalia Szejko, Urszula Szymanska, Zsanett Tarnok, Vaia Tsironi, Tomasz Wolanczyk, Cezary Zekanowski, Cathy L. Barr, James R. Batterson, Cheston Berlin, Ruth D. Bruun, Cathy L. Budman, Danielle C. Cath, Sylvain Chouinard, Nancy J. Cox, Sabrina Darrow, Lea K. Davis, Yves Dion, Nelson B. Freimer, Marco A. Grados, Matthew E. Hirschtritt, Cornelia Illmann, Roger Kurlan, James F. Leckman, Gholson J. Lyon, Irene A. Malaty, William M. MacMahon, Michael S. Okun, Lisa Osiecki, David L. Pauls, Danielle Posthuma, Vasily Ramensky, Mary M. Robertson, Guy A. Rouleau, Paul Sandor, Harvey S. Singer, Jan Smit, Jae-Hoon Sul, Tourette International Collaborative Genetics Study (TIC Genetics), Tourette Syndrome Genetics Southern and Eastern Europe Initiative (TSGENESEE), Tourette Association of America International Consortium for Genetics (TAAICG), Abdulkadir, M., Arbelaez, J., Bodmer, B., Bromberg, Y., Brown, L.W., Cheon, K.A., Coffey, B.J., Deng, L., Dietrich, A., Dong, S., Duhn, C., Elzerman, L., Fernandez, T.V., Fremer, C., Garcia-Delgar, B., Gilbert, D.L., Grice, D.E., Hagstrøm, J., Hedderly, T., Heiman, G.A., Heyman, I., Hoekstra, P.J., Hong, H.J., Huyser, C., Kim, E.J., Kim, Y.K., Kim, Y.S., King, R.A., Koh, Y.J., Kook, S., Kuperman, S., Leventhal, B.L., Ludolph, A.G., Madruga-Garrido, M., Mandell, J.D., Maras, A., Mir, P., Morer, A., Morris, M.T., Müller-Vahl, K., Münchau, A., Murphy, T.L., Nasello, C., Plessen, K.J., Poisner, H., Roessner, V., Sanders, S.J., Shin, E.Y., Song, D.H., Song, J., State, M.W., Sun, N., Thackray, J.K., Tischfield, J.A., Tübing, J., Visscher, F., Wanderer, S., Wang, S., Willsey, A.J., Woods, M., Xing, J., Zhang, Y., Zhao, X., Zinner, S.H., Androutsos, C., Barta, C., Farkas, L., Fichna, J., Georgitsi, M., Janik, P., Karagiannidis, I., Koumoula, A., Nagy, P., Paschou, P., Puchala, J., Rizzo, R., Szejko, N., Szymanska, U., Tarnok, Z., Tsironi, V., Wolanczyk, T., Zekanowski, C., Barr, C.L., Batterson, J.R., Berlin, C., Bruun, R.D., Budman, C.L., Cath, D.C., Chouinard, S., Coppola, G., Cox, N.J., Darrow, S., Davis, L.K., Dion, Y., Freimer, N.B., Grados, M.A., Hirschtritt, M.E., Huang, A.Y., Illmann, C., Kurlan, R., Leckman, J.F., Lyon, G.J., Malaty, I.A., Mathews, C.A., MacMahon, W.M., Neale, B.M., Okun, M.S., Osiecki, L., Pauls, D.L., Posthuma, D., Ramensky, V., Robertson, M.M., Rouleau, G.A., Sandor, P., Scharf, J.M., Singer, H.S., Smit, J., Sul, J.H., and Yu, D.

Subjects
Adult, Male, 0301 basic medicine, medicine.medical_specialty, DNA Copy Number Variations, Receptors, Cell Surface, Biology, Genome, Article, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, 0302 clinical medicine, RARE, SCHIZOPHRENIA, medicine, Humans, Copy-number variation, Child, NEURODEVELOPMENTAL DISORDERS, Gene, lcsh:QH301-705.5, Exome sequencing, 030304 developmental biology, Medicinsk genetik, Sequence (medicine), Genetics, 0303 health sciences, SEVERE INTELLECTUAL DISABILITY, Cadherin, MUTATIONS, AUTISM SPECTRUM DISORDER, Cell Polarity, OBSESSIVE-COMPULSIVE DISORDER, Cadherins, medicine.disease, Pedigree, PREVALENCE, CONGENITAL HEART-DISEASE, GENOME, 030104 developmental biology, lcsh:Biology (General), Schizophrenia, Medical genetics, Female, Cadherins/genetics, Receptors, Cell Surface/genetics, Tourette Syndrome/genetics, Tourette Syndrome/pathology, TIC Genetics, Tourette disorder, cell polarity, copy number variants, de novo variants, gene discovery, microarray genotyping, multiplex, simplex, whole exome sequencing, Medical Genetics, 030217 neurology & neurosurgery, Tourette Syndrome
Abstract

SUMMARY We previously established the contribution of de novo damaging sequence variants to Tourette disorder (TD) through whole-exome sequencing of 511 trios. Here, we sequence an additional 291 TD trios and analyze the combined set of 802 trios. We observe an overrepresentation of de novo damaging variants in simplex, but not multiplex, families; we identify a high-confidence TD risk gene, CELSR3 (cadherin EGF LAG seven-pass G-type receptor 3); we find that the genes mutated in TD patients are enriched for those related to cell polarity, suggesting a common pathway underlying pathobiology; and we confirm a statistically significant excess of de novo copy number variants in TD. Finally, we identify significant overlap of de novo sequence variants between TD and obsessive-compulsive disorder and de novo copy number variants between TD and autism spectrum disorder, consistent with shared genetic risk., In Brief Wang et al. expand their earlier exome-sequencing work in TD, adding 291 trios and conducting combined analyses suggesting de novo variants carry more risk in individuals with unaffected parents, establishing de novo structural variants as risk factors, identifying CELSR3 as a risk gene, and implicating cell polarity in pathogenesis., Graphical Abstract

Published
2018

2. Investigation of previously implicated genetic variants in chronic tic disorders

Author

Samuel Kuperman, Frank Visscher, Kirsten R. Müller-Vahl, Eun-Young Shin, Jennifer Tübing, Els van den Ban, Sina Wanderer, Hyun Ju Hong, Yun-Joo Koh, Jungeun Song, Gary A. Heiman, Lonneke Elzerman, Donald L. Gilbert, Derek Gordon, Laura Ibanez-Gomez, Keun-Ah Cheon, Douglas Londono, Young Key Kim, Bennett L. Leventhal, Alexander Münchau, Odette Fründt, Andrea G. Ludolph, Astrid Morer, Sodahm Kook, Thomas V. Fernandez, Lawrence W. Brown, Marcos Madruga-Garrido, Ewgeni Jakubovski, Jay A. Tischfield, Mohamed Abdulkadir, Blanca Garcia-Delgar, Carolin Fremer, Samuel H. Zinner, Pablo Mir, Robert A. King, Martin Woods, Veit Roessner, Young Shin Kim, Isobel Heyman, Tara Murphy, Athanasios Maras, Dong-Ho Song, Pieter J. Hoekstra, Tammy Hedderly, Barbara J. Coffey, Andrea Dietrich, Chaim Huyser, Dorothy E. Grice, Kerstin J. Plessen, Clinical Cognitive Neuropsychiatry Research Program (CCNP), Child Psychiatry, and Child and Adolescent Psychiatry / Psychology

Subjects
0301 basic medicine, Male, Candidate gene, Genome-wide association study, Tryptophan Hydroxylase, Obsessive–compulsive disorder, Severity of Illness Index, Linkage Disequilibrium, PICALM, 0302 clinical medicine, Candidate gene study, Obsessive-compulsive disorder, Pharmacology (medical), Child, POPULATION, Psychiatry, Genetics, LA-TOURETTE-SYNDROME, education.field_of_study, SLITRK1 GENE, Single Nucleotide, General Medicine, Transmission disequilibrium test, Middle Aged, 3. Good health, Psychiatry and Mental health, COMPREHENSIVE METAANALYSIS, Child, Preschool, HISTIDINE-DECARBOXYLASE, Cognitive Sciences, Female, Microtubule-Associated Proteins, Adult, Adolescent, Genotype, Clinical Sciences, Population, Single-nucleotide polymorphism, Biology, Polymorphism, Single Nucleotide, 03 medical and health sciences, Young Adult, SNP, Humans, Polymorphism, GENOME-WIDE ASSOCIATION, AUTISM, Preschool, education, Biological Psychiatry, FAMILY-BASED ASSOCIATION, Genetic association, Family Health, Original Paper, Tourette syndrome, Neurosciences, OBSESSIVE-COMPULSIVE DISORDER, Transmission Disequilibrium Test, CROSS-DISORDER, 030104 developmental biology, Attention-deficit/hyperactivity disorder, Tic Disorders, 030217 neurology & neurosurgery, Genome-Wide Association Study
Abstract

Genetic studies in Tourette syndrome (TS) are characterized by scattered and poorly replicated findings. We aimed to replicate findings from candidate gene and genome-wide association studies (GWAS). Our cohort included 465 probands with chronic tic disorder (93% TS) and both parents from 412 families (some probands were siblings). We assessed 75 single nucleotide polymorphisms (SNPs) in 465 parent–child trios; 117 additional SNPs in 211 trios; and 4 additional SNPs in 254 trios. We performed SNP and gene-based transmission disequilibrium tests and compared nominally significant SNP results with those from a large independent case–control cohort. After quality control 71 SNPs were available in 371 trios; 112 SNPs in 179 trios; and 3 SNPs in 192 trios. 17 were candidate SNPs implicated in TS and 2 were implicated in obsessive–compulsive disorder (OCD) or autism spectrum disorder (ASD); 142 were tagging SNPs from eight monoamine neurotransmitter-related genes (including dopamine and serotonin); 10 were top SNPs from TS GWAS; and 13 top SNPs from attention-deficit/hyperactivity disorder, OCD, or ASD GWAS. None of the SNPs or genes reached significance after adjustment for multiple testing. We observed nominal significance for the candidate SNPs rs3744161 (TBCD) and rs4565946 (TPH2) and for five tagging SNPs; none of these showed significance in the independent cohort. Also, SLC1A1 in our gene-based analysis and two TS GWAS SNPs showed nominal significance, rs11603305 (intergenic) and rs621942 (PICALM). We found no convincing support for previously implicated genetic polymorphisms. Targeted re-sequencing should fully appreciate the relevance of candidate genes. Electronic supplementary material The online version of this article (doi:10.1007/s00406-017-0808-8) contains supplementary material, which is available to authorized users.

Published
2018
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3. De Novo Coding Variants Are Strongly Associated with Tourette Disorder

Author

A. Jeremy Willsey, Thomas V. Fernandez, Dongmei Yu, Robert A. King, Andrea Dietrich, Jinchuan Xing, Stephan J. Sanders, Jeffrey D. Mandell, Alden Y. Huang, Petra Richer, Louw Smith, Shan Dong, Kaitlin E. Samocha, Benjamin M. Neale, Giovanni Coppola, Carol A. Mathews, Jay A. Tischfield, Jeremiah M. Scharf, Matthew W. State, Gary A. Heiman, Mohamed Abdulkadir, Julia Bohnenpoll, Yana Bromberg, Lawrence W. Brown, Keun-Ah Cheon, Barbara J. Coffey, Li Deng, Lonneke Elzerman, Odette Fründt, Blanca Garcia-Delgar, Erika Gedvilaite, Donald L. Gilbert, Dorothy E. Grice, Julie Hagstrøm, Tammy Hedderly, Isobel Heyman, Pieter J. Hoekstra, Hyun Ju Hong, Chaim Huyser, Laura Ibanez-Gomez, Young Key Kim, Young-Shin Kim, Yun-Joo Koh, Sodahm Kook, Samuel Kuperman, Andreas Lamerz, Bennett Leventhal, Andrea G. Ludolph, Claudia Lühr da Silva, Marcos Madruga-Garrido, Athanasios Maras, Pablo Mir, Astrid Morer, Alexander Münchau, Tara L. Murphy, Cara Nasello, Thaïra J.C. Openneer, Kerstin J. Plessen, Veit Roessner, Stephan Sanders, Eun-Young Shin, Deborah A. Sival, Dong-Ho Song, Jungeun Song, Anne Marie Stolte, Nawei Sun, Jennifer Tübing, Frank Visscher, Michael F. Walker, Sina Wanderer, Shuoguo Wang, Martin Woods, Yeting Zhang, Anbo Zhou, Samuel H. Zinner, Cathy L. Barr, James R. Batterson, Cheston Berlin, Ruth D. Bruun, Cathy L. Budman, Danielle C. Cath, Sylvain Chouinard, Nancy J. Cox, Sabrina Darrow, Lea K. Davis, Yves Dion, Nelson B. Freimer, Marco A. Grados, Matthew E. Hirschtritt, Cornelia Illmann, Roger Kurlan, James F. Leckman, Gholson J. Lyon, Irene A. Malaty, William M. MaMahon, Michael S. Okun, Lisa Osiecki, David L. Pauls, Danielle Posthuma, Vasily Ramensky, Mary M. Robertson, Guy A. Rouleau, Paul Sandor, Harvey S. Singer, Jan Smit, Jae-Hoon Sul, Psychiatry, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Neuroscience - Compulsivity, Impulsivity & Attention, Amsterdam Neuroscience - Mood, Anxiety, Psychosis, Stress & Sleep, Amsterdam Reproduction & Development (AR&D), Human genetics, Other departments, and Child Psychiatry

Subjects
0301 basic medicine, Proband, Adult, Male, Parents, INTELLECTUAL DISABILITY, FUNCTIONAL GENOMICS EXPERIMENTS, DNA-SEQUENCING DATA, AUTISM SPECTRUM DISORDERS, Cell Cycle Proteins, Receptors, Cell Surface, Biology, medicine.disease_cause, Bioinformatics, Tourette syndrome, Article, TIC DISORDERS, Cohort Studies, 03 medical and health sciences, medicine, Odds Ratio, Missense mutation, Humans, Genetic Predisposition to Disease, Copy-number variation, Child, Gene, Exome sequencing, Genetics, COPY NUMBER VARIANTS, Mutation, MUTATIONS, General Neuroscience, PSYCHIATRIC-DISORDERS, Intracellular Signaling Peptides and Proteins, Genetic Variation, Proteins, NIPBL, OBSESSIVE-COMPULSIVE DISORDER, LANGE-SYNDROME, Sequence Analysis, DNA, medicine.disease, Cadherins, Phosphoproteins, Fibronectins, 030104 developmental biology, Female, Tourette Syndrome
Abstract

Whole-exome sequencing (WES) and de novo variant detection have proven a powerful approach to gene discovery in complex neurodevelopmental disorders. We have completed WES of 325 Tourette disorder trios from the Tourette International Collaborative Genetics cohort and a replication sample of 186 trios from the Tourette Syndrome Association International Consortium on Genetics (511 total). We observe strong and consistent evidence for the contribution of de novo likely gene-disrupting (LGD) variants (rate ratio [RR] 2.32, p = 0.002). Additionally, de novo damaging variants (LGD and probably damaging missense) are overrepresented in probands (RR 1.37, p = 0.003). We identify four likely risk genes with multiple de novo damaging variants in unrelated probands: WWC1 (WW and C2 domain containing 1), CELSR3 (Cadherin EGF LAG seven-pass G-type receptor 3), NIPBL (Nipped-B-like), and FN1 (fibronectin 1). Overall, we estimate that de novo damaging variants in approximately 400 genes contribute risk in 12% of clinical cases. Video Abstract [Figure presented]

Published
2017
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4. Pre- and perinatal complications in relation to Tourette syndrome and co-occurring obsessive-compulsive disorder and attention-deficit/hyperactivity disorder

Author

Gary A. Heiman, Pablo Mir, Jennifer Tübing, Yun Joo Koh, Julie Hagstrøm, Donald L. Gilbert, Andreas Lamerz, Thaïra J.C. Openneer, Els van den Ban, Jungeun Song, Jay A. Tischfield, Barbara J. Coffey, Mohamed Abdulkadir, Young Key Kim, Blanca Garcia-Delgar, Matthew W. State, Chaim Huyser, Alexander Münchau, Laura Ibanez-Gomez, Kerstin J. Plessen, Tamasine Hedderly, Keun-Ah Cheon, Thomas V. Fernandez, Odette Fründt, Andrea G. Ludolph, Marcos Madruga-Garrido, Isobel Heyman, Andrea Dietrich, Anne Marie Stolte, Athanasios Maras, Lawrence W. Brown, Robert A. King, Deborah A Sival, Sodahm Kook, Samuel Kuperman, Astrid Morer, Marieke D. Messchendorp, Samuel H. Zinner, Lonneke Elzerman, Dorothy E. Grice, Veit Roessner, Sebastian F T M de Bruijn, Sina Wanderer, Dong-Ho Song, Judith J G Rath, Pieter J. Hoekstra, Martin Woods, Young Shin Kim, Tara Murphy, Bennett L. Leventhal, Hyun Ju Hong, Eun Young Shin, Frank Visscher, Child and Adolescent Psychiatry / Psychology, Clinical Cognitive Neuropsychiatry Research Program (CCNP), Movement Disorder (MD), Child Psychiatry, and ANS - Compulsivity, Impulsivity & Attention

Subjects
Male, Pediatrics, Tic disorder, Obsessive-Compulsive Disorder, SYMPTOMS, CHILDREN, Neurodegenerative, Low Birth Weight and Health of the Newborn, Medical and Health Sciences, Tourette syndrome, Severity of Illness Index, 0302 clinical medicine, Pregnancy, Infant Mortality, Morning sickness, ADOLESCENTS, 80 and over, Obsessive-compulsive disorder, 2.1 Biological and endogenous factors, Prenatal, LOW-BIRTH-WEIGHT, MATERNAL SMOKING, Aetiology, Young adult, Parent-Child Relations, Child, Pediatric, Psychiatry, Aged, 80 and over, TIC-SEVERITY-SCALE, Age Factors, Middle Aged, Serious Mental Illness, PRENATAL RISK-FACTORS, Europe, Psychiatry and Mental health, Mental Health, PREGNANCY, Child, Preschool, Female, medicine.symptom, Attention-deficit hyperactivity disorder, Psychology, Delivery, Adult, medicine.medical_specialty, Adolescent, DEFICIT HYPERACTIVITY DISORDER, Article, 03 medical and health sciences, Young Adult, Sex Factors, Clinical Research, Preterm, Severity of illness, mental disorders, Republic of Korea, medicine, Attention deficit hyperactivity disorder, ADHD, Humans, Preschool, Biological Psychiatry, Aged, Retrospective Studies, Psychiatric Status Rating Scales, Psychology and Cognitive Sciences, Neurosciences, Perinatal Period - Conditions Originating in Perinatal Period, medicine.disease, Attention Deficit Hyperactivity Disorder (ADHD), United States, Brain Disorders, 030227 psychiatry, Pregnancy Complications, Low birth weight, Good Health and Well Being, Attention Deficit Disorder with Hyperactivity, Case-Control Studies, Tic Disorders, Chronic Tic Disorder, 030217 neurology & neurosurgery
Abstract

Pre- and perinatal complications have been implicated in the onset and clinical expression of Tourette syndrome albeit with considerable inconsistencies across studies. Also, little is known about their role in co-occurring obsessive-compulsive disorder (OCD) and attention-deficit/hyperactivity disorder (ADHD) in individuals with a tic disorder. Therefore, we aimed to investigate the role of pre- and perinatal complications in relation to the presence and symptom severity of chronic tic disorder and co-occurring OCD and ADHD using data of 1113 participants from the Tourette International Collaborative Genetics study. This study included 586 participants with a chronic tic disorder and 527 unaffected family controls. We controlled for age and sex differences by creating propensity score matched subsamples for both case-control and within-case analyses. We found that premature birth (OR=1.72) and morning sickness requiring medical attention (OR=2.57) were associated with the presence of a chronic tic disorder. Also, the total number of pre- and perinatal complications was higher in those with a tic disorder (OR=1.07). Furthermore, neonatal complications were related to the presence (OR=1.46) and severity (b=2.27) of co-occurring OCD and also to ADHD severity (b=1.09). Delivery complications were only related to co-occurring OCD (OR=1.49). We conclude that early exposure to adverse situations during pregnancy is related to the presence of chronic tic disorders. Exposure at a later stage, at birth or during the first weeks of life, appears to be associated with co-occurring OCD and ADHD.

Published
2016

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